GM babies - 08 May 2001 - New Scientist: "GM babies
* 12:00 08 May 2001 by Andy Coghlan and Joanna Marchant
Babies have been born with DNA from three parents instead of two. They have been described as the first genetically engineered humans, as the added DNA they carry could be passed on down the generations.
New Scientist reported last year that a certain fertility treatment would spawn babies with DNA from more than two parents (2 December 2000, p 16). Now cells from two one-year-old babies born as a result of this treatment have indeed turned out to have a little extra DNA from a donor mother, as well as that from their own parents.
In the mid-1990s, Jacques Cohen and Jason Barritt at the Institute for Reproductive Medicine and Science of Saint Barnabas in New Jersey wondered whether some women could not have babies because of defects in the cytoplasm of their eggs - the fluid surrounding the nucleus. So they decided to try adding 'healthy' cytoplasm from a donor egg.
While the vast majority of our genes are housed in the nucleus, the cytoplasm contains tiny energy-producing structures called mitochondria, which have their own set of 13 genes. Injecting donor cytoplasm into an egg involves transferring mitochondria and their genes as well.
The researchers examined 12 of the 30 babies born with the help of the technique and found that two of them carry donor mitochondria.
"This report is the first case of human germline genetic modification resulting in normal healthy children," say Barritt and his colleagues in the journal Human Reproduction. These mitochondria could be passed on to future generations. "We won't know till they reach reproductive age," he told New Scientist.
Barritt stresses that the 13 genes in mitochondrial DNA do nothing except provide proteins to produce energy. "Genes in the nucleus control the mitochondria, not the other way around," he says. Mitochondrial DNA "doesn't influence any nuclear genes in any way, shape or form."
However, no one knows if the added mitochondria were the reason why the fertility treatment worked in these two cases. Other, non-genetic components of the cytoplasm might have done the trick. "We think every patient is different, and some might need mitochondria for extra energy, and some might need messenger RNA or proteins," says Barritt.
Some researchers want to go further. James Grifo of New York University has been given approval to try to treat infertile women by removing the nucleus from their egg and injecting it into a donor egg whose nucleus has been removed. In this case, all the mitochondria of any baby born would come from the donor.
This technique could also help prevent women who have mutations in mitochondrial DNA passing the problem on to their children. Such mitochondrial diseases cause various problems, and can be fatal.
Meanwhile, scientists are still fighting about whether terms such as "genetic modification" apply to this treatment. Despite what Barritt wrote in Human Reproduction, he maintains it is not germline therapy. "To be true genetic or germline therapy, you must modify genes in nuclear DNA."
But Norman Nevin, chairman of the UK's Gene Therapy Advisory Committee, says: "My gut feeling is that you're adding mitochondrial DNA, so that is gene therapy."
The UK's Human Fertilisation and Embryology Authority says it has not had any requests for licences to perform similar cytoplasm injection procedures in the UK. A subcomittee of the HFEA looked at the technique last year, when details of the first live births resulting from the new technique were published.
"At the time, we decided that there was no evidence to show a significantly improved success rate, and there were also concerns about any carry over of DNA," says a spokeswoman.
More at: Human Reproduction (vol 16, p 513)
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Tuesday, December 9, 2008
Genetically modified humans: Here and more coming soon - health - 04 June 2008 - New Scientist
Genetically modified humans: Here and more coming soon - health - 04 June 2008 - New Scientist: "Genetically modified humans: Here and more coming soon
* 04 June 2008 by Nick Lane
* Magazine issue 2659. Subscribe and get 4 free issues.
* For similar stories, visit the Genetics Topic Guide
1 more image
CHILDREN with three parents might sound like monstrous chimeras, but they are among us already. In the late 1990s, an American team created the first genetically engineered humans by adding part of the egg of one woman to the egg of another, to treat infertility. When the US Food and Drug Administration got wind of the technique it was promptly banned, though related methods have been used in other countries.
Now a research team in the UK is experimenting with creating three-parent embryos. This time, the goal is to prevent children inheriting a rare group of serious diseases caused by faulty mitochondria, the powerhouses in our cells. Mitochondrial diseases affect at least 1 in 8000 people, probably more, and there are no treatments.
Mitochondria are always inherited from the mother, so for women in whom they are faulty, replacing the mitochondria in their eggs with healthy ones from a donor would help ensure their children are healthy. What makes the idea controversial is that mitochondria contain DNA of their own, meaning babies created this way will have genes from a "second mother".
Supporters of this approach point out that mitochondria contain a mere 37 of the 20,000 or so human genes. Changing them is akin to changing a battery, they argue. Yet it is becoming increasingly clear that the influence of mitochondrial genes extends far further: different variants can affect our energy, athleticism, health, ageing, fertility, perhaps even our intelligence, all of which help make us who we are as individuals.
The prospect of trying to prevent mitochondrial diseases by creating babies with two mothers raises a host of issues. On the one hand, if the Food and Drug Administration felt that three-parent embryos were unsafe, what's changed? On the other hand, if this approach really is safe, wouldn't it make sense to equip our children to live longer, healthier and more active lives by giving them the best possible mitochondria? The answers to these questions offer insights into some of the most intriguing aspects of sex, health, disease and longevity - and even into the origin of species.
Mixed up
Male mitochondria are an evolutionary dead end. While there are 100 or so in the tail of every sperm, powering its motility, they are destroyed when the winning sperm gets inside the egg, which is stocked with 100,000 or more mitochondria of its own. As a result, mitochondrial DNA almost always passes from egg to egg, mother to daughter.
This is the deepest distinction between the sexes. Forget the Y chromosome, which is a genetic johnny-come-lately, restricted to mammals: reptiles, insects and plants all have different systems of sex determination. Even many simple algae and fungi have two sexes, but the only thing their sexes have in common with ours is the passage of mitochondria down the "maternal" line.
How this came about is still hotly debated. The leading hypothesis, proposed in 1992, is that if mitochondria from the father and mother had to compete with each other for survival, "selfish" mitochondria would evolve to the detriment of the entire organism: the mitochondria that are best at proliferating are not necessarily best at providing a cell with the right amount of energy. Whatever the reason, all the mitochondria in our cells are normally identical.
In the 1990s, however, the fertility technique pioneered by Jacques Cohen at the Institute for Reproductive Medicine and Science of St Barnabas in Livingston, New Jersey, resulted in children with cells containing a mixture of mitochondria from different individuals - something that almost never happens naturally. The technique, known as ooplasmic transfer, involves transferring tiny extracts of healthy donor eggs into the eggs of infertile women, with the vague aim of "pepping them up" a little. It boiled down to injecting a bit of good egg into a bad egg, and hoping for the best. Surprisingly, it seemed to help, although no controlled trials were done to show this for sure.
Unanticipated consequences
The group suspected it was transferring mitochondria, but didn't anticipate the consequences. Despite injecting less than 5 per cent of the egg-cell volume, when blood cells were taken from two of the 30 babies born this way, about a third of the mitochondria were found to come from the donor egg.
While there is no evidence that these children will suffer from diseases as a result of their cells having a mixture of mitochondria from two different women, there is no guarantee that they won't, either. This is why most researchers think the FDA was right to ban ooplasmic transfer until its effects are understood. However, Jonathan Van Blerkom, a developmental biologist at the University of Colorado in Boulder, who sat on that FDA committee, sees the work now taking place in the UK in a different light. The approach holds enormous promise, he says, and it would be "criminal" to ban it.
The research is led by Patrick Chinnery and Douglas Turnbull of Newcastle University in the UK, who see people with some of the most dreadful congenital diseases known. Leigh syndrome, for instance, occasionally affects adults but usually strikes children under 2 years old. Sufferers have difficulty moving, swallowing and breathing. The symptoms come and go but inevitably worsen, leading to mental impairment, seizures and death within months or years. Leber's hereditary optic neuropathy causes blindness, usually in young men. Another syndrome, called MELAS, can involve anything from digestive problems and mild deafness to diabetes, seizures and stroke-like episodes.
"In mice it is possible to prevent the transmission of often disabling and sometimes fatal disease," Turnbull says. "The only focus of our laboratory is to try and determine if this is a valid treatment for our patients." Chinnery and Turnbull are experimenting with a method originally proposed in the 1980s by the guru of mitochondriacs, Doug Wallace, who is now at the University of California, Irvine. The trick, he suggested, is not to transplant any mitochondria, just the cell nucleus - the repository of the main genome.
Peculiar inheritance
Soon after an egg with faulty mitochondria is fertilised, its nucleus is taken out and injected into a donor egg cell whose nucleus has been removed. The outcome is an embryo with nuclear genes from the prospective parents and mitochondrial DNA from the second mother. In principle, all the mutant mitochondria should be left behind; in practice, however, a few may stick to the transplanted nucleus. Even though their numbers start off small, as the embryo grows the proportion of mutant mitochondria could be ramped up in some cells, as happened after ooplasmic transfers.
Typically the proportion of mutant mitochondria per cell has to exceed a certain threshold before problems begin. This means people with the same mitochondrial mutation can have quite different symptoms, or none at all, depending on the fraction of mutant mitochondria in cells in different parts of their bodies. Chinnery and Turnbull are now investigating whether the transfer of a handful of mutant mitochondria along with the nucleus could result in some cells having a dangerously high proportion of mutant mitochondria. The early results suggest not, but they are in the middle of more systematic studies and don't want to speak too soon.
Even if children conceived by this means are healthy and stay that way, Van Blerkom points out that a disease might reappear generations later. The problem is the random segregation of mitochondria into developing egg cells, and their subsequent multiplication from as few as 10 to the 100,000 in a mature egg cell. If even a handful of faulty mitochondria get into the germline, they could be amplified to a level high enough to cause a recurrence of disease in descendants of the female line.
Dangerous mutations
This might seem to be a serious argument against three-parent embryos, until you consider the alternative. At the moment, women who discover that their mitochondria bear dangerous mutations face a terrible dilemma when it comes to having children. The peculiar nature of mitochondrial diseases means that even when all a woman's mitochondria are mutant, a child could be anything from perfectly healthy to suffering from a far more severe form of the disease than the mother. In some cases doctors can give more precise odds, but often they can't.
Would-be mothers face a terrible dilemma, as their children could be anything from healthy to suffering from severe disease
Prenatal testing, or IVF with pre-implantation genetic diagnosis (PGD), are not much help either. Such screening methods can detect some common mitochondrial mutations but cannot reliably reveal what percentage of mitochondria in cells bear these mutations. Neither method can help women whose mitochondria are all mutant. The bottom line is that the creation of two-mother embryos could provide would-be parents with by far the best chance of having healthy children - and healthy grandchildren and great-grandchildren.
So let's suppose that all the outstanding issues are solved in the next few years, and that the creation of two-mother babies to prevent mitochondrial diseases becomes routine in the next few decades. Will this be the first step on a slippery slope towards creating designer babies?
Designer babies
The idea is not beyond the pale, as we are learning that the role of mitochondrial DNA goes deeper than anyone thought. Perhaps the biggest surprise over the past decade is that mitochondria are responsible not merely for energy production in cells, but also for orchestrating programmed cell death. The state of mitochondria is the decisive factor determining whether cells live or die, with obvious implications for health and disease, from cancer to degenerative diseases such as Alzheimer's.
The most striking example comes from Japan. Here, there is a common variant in mitochondrial DNA, a change in a single DNA "letter". A decade ago Masashi Tanaka, now at the Tokyo Metropolitan Institute of Gerontology, and his colleagues reported that this tiny change almost halved the risk of being hospitalised for any age-related disease at all, while doubling the chance of living to 100. Most Japanese centenarians have the variant, but unfortunately for the rest of us it's very rare outside Japan.
Since the late 1990s, other variants in mitochondrial DNA have turned out to be implicated in all kinds of traits. Several are linked with longevity, albeit less robustly than the Japanese type. Another common variation is associated with diabetes, while others increase the risk of neuro-degenerative conditions such as Parkinson's disease. Male fertility depends partly on sperm motility, which is also influenced by mitochondrial variants. Even IQ, Tanaka has found, is linked to mitochondrial variations, at least in Japan, though the differences are small.
So could we boost intelligence and lifespan, and prevent many diseases by creating "designer" three-parent embryos? The answer is probably not, at least in the foreseeable future. There are two main reasons. The first, Tanaka notes, is that old biological chestnut, trade-off: nothing comes without a cost. In Japan, the mitochondrial group with the highest IQ is most likely to get heart disease, for example.
Tradeoffs
Wallace, meanwhile, thinks that our mitochondria evolve to match our climate by regulating internal heat generation. Mitochondria may produce less heat in the tropics, but at the cost of leaking more free radicals, which predisposes individuals to diseases like diabetes. Conversely, people adapted to northern climates generate more heat internally and are less likely to get diabetes, but at the cost of more male infertility. So you choose a trait and pay the penalty. Would you opt for a mitochondrial variant that boosted your child's athleticism, for example, if you knew it would lead to poor health later in life?
Then there is an even more fundamental problem. Of the 1500 or so mitochondrial proteins, just 13 are encoded by mitochondrial genes and produced locally. The rest are encoded in nuclear DNA, made elsewhere in the cell and exported to mitochondria. These two sets of proteins, encoded by different genomes, have to work together intimately, yet mitochondrial DNA mutates around 20 times as fast as nuclear DNA. If such mutations mean the two genomes don't function well together, then an individual is more likely to suffer from a range of diseases. At worst, the embryo could die.
Ronald Burton, a marine biologist at the Scripps Institution of Oceanography in San Diego, California, has even suggested that such incompatibilities might be behind the origin of species, or at least some of them. He works with tiny marine copepods, shrimp-like crustaceans that live along the Pacific coast close to Scripps. Their populations don't interbreed much, and so steadily accumulate differences in their mitochondrial DNA. When Burton and his colleagues experimented with interbreeding between local populations, they discovered that mitochondrial incompatibilities undermined the health of offspring. The animals lacked energy, developed slowly, were less fertile and were also more likely to die early. It is only a matter of time before these incompatibilities reach a level that rules out successful interbreeding altogether - the very definition of a species. What's more, because mitochondrial genes evolve so quickly, they might even play the dominant role in natural speciation.
Wallace and others have found that these evolutionary patterns apply not only to crustaceans, but also to mammals - and notably to primates. Our genes show all the cardinal signs of selection for compatibility with mitochondria (Gene, vol 378, p 11), and mitochondrial incompatibilities might play a huge role in human health and happiness.
Inhumane
For example, around 40 per cent of all pregnancies end in early miscarriage for unknown reasons. Many could be caused by mitochondrial incompatibilities. Not only that, but Tanaka suspects the high incidence of diabetes among Californian Hispanics is related to incompatibilities between mitochondrial and nuclear genes due to the mixing of long-separated populations. If he's right, there could be many other examples.
The issue of compatibility means there is an inherent danger in any attempts to boost health, longevity, fertility, athleticism or IQ by transplanting mitochondria: putting the wrong mitochondria and nucleus together could harm children rather than improving them. Leaving aside the ethics, the risks appear to outweigh the benefits.
For those who risk passing on mutant mitochondria, however, the odds are very different. The Newcastle team plans to minimise incompatibilities by picking donors with a broadly similar mitochondrial genome, or haplotype. The risk cannot be completely eliminated, but it is far lower than that of inheriting a mitochondrial disease. "It's inhumane not to treat such conditions if we can," says Van Blerkom. "There's no other reason to go into medicine at all."
Mitochondria - the basics
#
Each of our cells contains anything from one to thousands of mitochondria
#
Mitochondria "burn" food to produce the fuel that powers cellular processes
#
Their size and shape varies from cell to cell
#
Each contains up to 10 copies of a piece of circular DNA encoding 13 proteins
#
These proteins are produced within the mitochondria
#
The vast majority of the 1500 or so mitochondrial proteins are encoded in nuclear DNA and exported to mitochondria
Nick Lane is an honorary reader at University College London and author of Power, Sex, Suicide: Mitochondria and the meaning of life (Oxford University Press, 2005)
Issue 2659 of New Scientist magazine
* From issue 2659 of New Scientist magazine, page 38-41. Subscribe and get 4 free issues.
* Browse past issues of New Scientist magazine
If you would like to reuse any content from New Scientist, either in print or online, please contact the syndication department first for permission. New Scientist does not own rights to photos, but there are a variety of licensing options available for use of articles and graphics we own the copyright to.
Back to article
* 04 June 2008 by Nick Lane
* Magazine issue 2659. Subscribe and get 4 free issues.
* For similar stories, visit the Genetics Topic Guide
1 more image
CHILDREN with three parents might sound like monstrous chimeras, but they are among us already. In the late 1990s, an American team created the first genetically engineered humans by adding part of the egg of one woman to the egg of another, to treat infertility. When the US Food and Drug Administration got wind of the technique it was promptly banned, though related methods have been used in other countries.
Now a research team in the UK is experimenting with creating three-parent embryos. This time, the goal is to prevent children inheriting a rare group of serious diseases caused by faulty mitochondria, the powerhouses in our cells. Mitochondrial diseases affect at least 1 in 8000 people, probably more, and there are no treatments.
Mitochondria are always inherited from the mother, so for women in whom they are faulty, replacing the mitochondria in their eggs with healthy ones from a donor would help ensure their children are healthy. What makes the idea controversial is that mitochondria contain DNA of their own, meaning babies created this way will have genes from a "second mother".
Supporters of this approach point out that mitochondria contain a mere 37 of the 20,000 or so human genes. Changing them is akin to changing a battery, they argue. Yet it is becoming increasingly clear that the influence of mitochondrial genes extends far further: different variants can affect our energy, athleticism, health, ageing, fertility, perhaps even our intelligence, all of which help make us who we are as individuals.
The prospect of trying to prevent mitochondrial diseases by creating babies with two mothers raises a host of issues. On the one hand, if the Food and Drug Administration felt that three-parent embryos were unsafe, what's changed? On the other hand, if this approach really is safe, wouldn't it make sense to equip our children to live longer, healthier and more active lives by giving them the best possible mitochondria? The answers to these questions offer insights into some of the most intriguing aspects of sex, health, disease and longevity - and even into the origin of species.
Mixed up
Male mitochondria are an evolutionary dead end. While there are 100 or so in the tail of every sperm, powering its motility, they are destroyed when the winning sperm gets inside the egg, which is stocked with 100,000 or more mitochondria of its own. As a result, mitochondrial DNA almost always passes from egg to egg, mother to daughter.
This is the deepest distinction between the sexes. Forget the Y chromosome, which is a genetic johnny-come-lately, restricted to mammals: reptiles, insects and plants all have different systems of sex determination. Even many simple algae and fungi have two sexes, but the only thing their sexes have in common with ours is the passage of mitochondria down the "maternal" line.
How this came about is still hotly debated. The leading hypothesis, proposed in 1992, is that if mitochondria from the father and mother had to compete with each other for survival, "selfish" mitochondria would evolve to the detriment of the entire organism: the mitochondria that are best at proliferating are not necessarily best at providing a cell with the right amount of energy. Whatever the reason, all the mitochondria in our cells are normally identical.
In the 1990s, however, the fertility technique pioneered by Jacques Cohen at the Institute for Reproductive Medicine and Science of St Barnabas in Livingston, New Jersey, resulted in children with cells containing a mixture of mitochondria from different individuals - something that almost never happens naturally. The technique, known as ooplasmic transfer, involves transferring tiny extracts of healthy donor eggs into the eggs of infertile women, with the vague aim of "pepping them up" a little. It boiled down to injecting a bit of good egg into a bad egg, and hoping for the best. Surprisingly, it seemed to help, although no controlled trials were done to show this for sure.
Unanticipated consequences
The group suspected it was transferring mitochondria, but didn't anticipate the consequences. Despite injecting less than 5 per cent of the egg-cell volume, when blood cells were taken from two of the 30 babies born this way, about a third of the mitochondria were found to come from the donor egg.
While there is no evidence that these children will suffer from diseases as a result of their cells having a mixture of mitochondria from two different women, there is no guarantee that they won't, either. This is why most researchers think the FDA was right to ban ooplasmic transfer until its effects are understood. However, Jonathan Van Blerkom, a developmental biologist at the University of Colorado in Boulder, who sat on that FDA committee, sees the work now taking place in the UK in a different light. The approach holds enormous promise, he says, and it would be "criminal" to ban it.
The research is led by Patrick Chinnery and Douglas Turnbull of Newcastle University in the UK, who see people with some of the most dreadful congenital diseases known. Leigh syndrome, for instance, occasionally affects adults but usually strikes children under 2 years old. Sufferers have difficulty moving, swallowing and breathing. The symptoms come and go but inevitably worsen, leading to mental impairment, seizures and death within months or years. Leber's hereditary optic neuropathy causes blindness, usually in young men. Another syndrome, called MELAS, can involve anything from digestive problems and mild deafness to diabetes, seizures and stroke-like episodes.
"In mice it is possible to prevent the transmission of often disabling and sometimes fatal disease," Turnbull says. "The only focus of our laboratory is to try and determine if this is a valid treatment for our patients." Chinnery and Turnbull are experimenting with a method originally proposed in the 1980s by the guru of mitochondriacs, Doug Wallace, who is now at the University of California, Irvine. The trick, he suggested, is not to transplant any mitochondria, just the cell nucleus - the repository of the main genome.
Peculiar inheritance
Soon after an egg with faulty mitochondria is fertilised, its nucleus is taken out and injected into a donor egg cell whose nucleus has been removed. The outcome is an embryo with nuclear genes from the prospective parents and mitochondrial DNA from the second mother. In principle, all the mutant mitochondria should be left behind; in practice, however, a few may stick to the transplanted nucleus. Even though their numbers start off small, as the embryo grows the proportion of mutant mitochondria could be ramped up in some cells, as happened after ooplasmic transfers.
Typically the proportion of mutant mitochondria per cell has to exceed a certain threshold before problems begin. This means people with the same mitochondrial mutation can have quite different symptoms, or none at all, depending on the fraction of mutant mitochondria in cells in different parts of their bodies. Chinnery and Turnbull are now investigating whether the transfer of a handful of mutant mitochondria along with the nucleus could result in some cells having a dangerously high proportion of mutant mitochondria. The early results suggest not, but they are in the middle of more systematic studies and don't want to speak too soon.
Even if children conceived by this means are healthy and stay that way, Van Blerkom points out that a disease might reappear generations later. The problem is the random segregation of mitochondria into developing egg cells, and their subsequent multiplication from as few as 10 to the 100,000 in a mature egg cell. If even a handful of faulty mitochondria get into the germline, they could be amplified to a level high enough to cause a recurrence of disease in descendants of the female line.
Dangerous mutations
This might seem to be a serious argument against three-parent embryos, until you consider the alternative. At the moment, women who discover that their mitochondria bear dangerous mutations face a terrible dilemma when it comes to having children. The peculiar nature of mitochondrial diseases means that even when all a woman's mitochondria are mutant, a child could be anything from perfectly healthy to suffering from a far more severe form of the disease than the mother. In some cases doctors can give more precise odds, but often they can't.
Would-be mothers face a terrible dilemma, as their children could be anything from healthy to suffering from severe disease
Prenatal testing, or IVF with pre-implantation genetic diagnosis (PGD), are not much help either. Such screening methods can detect some common mitochondrial mutations but cannot reliably reveal what percentage of mitochondria in cells bear these mutations. Neither method can help women whose mitochondria are all mutant. The bottom line is that the creation of two-mother embryos could provide would-be parents with by far the best chance of having healthy children - and healthy grandchildren and great-grandchildren.
So let's suppose that all the outstanding issues are solved in the next few years, and that the creation of two-mother babies to prevent mitochondrial diseases becomes routine in the next few decades. Will this be the first step on a slippery slope towards creating designer babies?
Designer babies
The idea is not beyond the pale, as we are learning that the role of mitochondrial DNA goes deeper than anyone thought. Perhaps the biggest surprise over the past decade is that mitochondria are responsible not merely for energy production in cells, but also for orchestrating programmed cell death. The state of mitochondria is the decisive factor determining whether cells live or die, with obvious implications for health and disease, from cancer to degenerative diseases such as Alzheimer's.
The most striking example comes from Japan. Here, there is a common variant in mitochondrial DNA, a change in a single DNA "letter". A decade ago Masashi Tanaka, now at the Tokyo Metropolitan Institute of Gerontology, and his colleagues reported that this tiny change almost halved the risk of being hospitalised for any age-related disease at all, while doubling the chance of living to 100. Most Japanese centenarians have the variant, but unfortunately for the rest of us it's very rare outside Japan.
Since the late 1990s, other variants in mitochondrial DNA have turned out to be implicated in all kinds of traits. Several are linked with longevity, albeit less robustly than the Japanese type. Another common variation is associated with diabetes, while others increase the risk of neuro-degenerative conditions such as Parkinson's disease. Male fertility depends partly on sperm motility, which is also influenced by mitochondrial variants. Even IQ, Tanaka has found, is linked to mitochondrial variations, at least in Japan, though the differences are small.
So could we boost intelligence and lifespan, and prevent many diseases by creating "designer" three-parent embryos? The answer is probably not, at least in the foreseeable future. There are two main reasons. The first, Tanaka notes, is that old biological chestnut, trade-off: nothing comes without a cost. In Japan, the mitochondrial group with the highest IQ is most likely to get heart disease, for example.
Tradeoffs
Wallace, meanwhile, thinks that our mitochondria evolve to match our climate by regulating internal heat generation. Mitochondria may produce less heat in the tropics, but at the cost of leaking more free radicals, which predisposes individuals to diseases like diabetes. Conversely, people adapted to northern climates generate more heat internally and are less likely to get diabetes, but at the cost of more male infertility. So you choose a trait and pay the penalty. Would you opt for a mitochondrial variant that boosted your child's athleticism, for example, if you knew it would lead to poor health later in life?
Then there is an even more fundamental problem. Of the 1500 or so mitochondrial proteins, just 13 are encoded by mitochondrial genes and produced locally. The rest are encoded in nuclear DNA, made elsewhere in the cell and exported to mitochondria. These two sets of proteins, encoded by different genomes, have to work together intimately, yet mitochondrial DNA mutates around 20 times as fast as nuclear DNA. If such mutations mean the two genomes don't function well together, then an individual is more likely to suffer from a range of diseases. At worst, the embryo could die.
Ronald Burton, a marine biologist at the Scripps Institution of Oceanography in San Diego, California, has even suggested that such incompatibilities might be behind the origin of species, or at least some of them. He works with tiny marine copepods, shrimp-like crustaceans that live along the Pacific coast close to Scripps. Their populations don't interbreed much, and so steadily accumulate differences in their mitochondrial DNA. When Burton and his colleagues experimented with interbreeding between local populations, they discovered that mitochondrial incompatibilities undermined the health of offspring. The animals lacked energy, developed slowly, were less fertile and were also more likely to die early. It is only a matter of time before these incompatibilities reach a level that rules out successful interbreeding altogether - the very definition of a species. What's more, because mitochondrial genes evolve so quickly, they might even play the dominant role in natural speciation.
Wallace and others have found that these evolutionary patterns apply not only to crustaceans, but also to mammals - and notably to primates. Our genes show all the cardinal signs of selection for compatibility with mitochondria (Gene, vol 378, p 11), and mitochondrial incompatibilities might play a huge role in human health and happiness.
Inhumane
For example, around 40 per cent of all pregnancies end in early miscarriage for unknown reasons. Many could be caused by mitochondrial incompatibilities. Not only that, but Tanaka suspects the high incidence of diabetes among Californian Hispanics is related to incompatibilities between mitochondrial and nuclear genes due to the mixing of long-separated populations. If he's right, there could be many other examples.
The issue of compatibility means there is an inherent danger in any attempts to boost health, longevity, fertility, athleticism or IQ by transplanting mitochondria: putting the wrong mitochondria and nucleus together could harm children rather than improving them. Leaving aside the ethics, the risks appear to outweigh the benefits.
For those who risk passing on mutant mitochondria, however, the odds are very different. The Newcastle team plans to minimise incompatibilities by picking donors with a broadly similar mitochondrial genome, or haplotype. The risk cannot be completely eliminated, but it is far lower than that of inheriting a mitochondrial disease. "It's inhumane not to treat such conditions if we can," says Van Blerkom. "There's no other reason to go into medicine at all."
Mitochondria - the basics
#
Each of our cells contains anything from one to thousands of mitochondria
#
Mitochondria "burn" food to produce the fuel that powers cellular processes
#
Their size and shape varies from cell to cell
#
Each contains up to 10 copies of a piece of circular DNA encoding 13 proteins
#
These proteins are produced within the mitochondria
#
The vast majority of the 1500 or so mitochondrial proteins are encoded in nuclear DNA and exported to mitochondria
Nick Lane is an honorary reader at University College London and author of Power, Sex, Suicide: Mitochondria and the meaning of life (Oxford University Press, 2005)
Issue 2659 of New Scientist magazine
* From issue 2659 of New Scientist magazine, page 38-41. Subscribe and get 4 free issues.
* Browse past issues of New Scientist magazine
If you would like to reuse any content from New Scientist, either in print or online, please contact the syndication department first for permission. New Scientist does not own rights to photos, but there are a variety of licensing options available for use of articles and graphics we own the copyright to.
Back to article
IVF Advance: Are 'Designer Babies' Next?
IVF Advance: Are 'Designer Babies' Next?: "ABC News
How Much Can We Decide About Baby's Genes?
Doctors Mull the Meaning of Next Step in Genetic Screening
By JOSEPH BROWNSTEIN
ABC News Medical Unit
July 1, 2008—
A British couple has used in vitro fertilization to keep their child free of a gene that promotes breast cancer -- an advancement supported by ethicists who worry, at the same time, where it will lead.
The Assisted Conception Unit at University College London Hospital announced this weekend that it had produced the first baby in the United Kingdom guaranteed not to have the breast cancer gene, which is thought to raise the risk of the disease to between 40 and 85 percent.
The father of the unborn child had a family history of breast cancer, with his sister, mother, grandmother and cousin all suffering from it at some point. Doctors scanned 11 fertilized embryos and implanted two of them that were found to be free of the breast cancer gene in the mother, who is now 14 weeks pregnant.
Doctors are quick to caution that this does not come close to eliminating the breast cancer risk entirely.
"Even if the baby doesn't have the breast cancer gene abnormality, that doesn't mean she won't get breast cancer," said Dr. Marisa Weiss, president and founder of breastcancer.org, and author of the upcoming breast cancer book "Taking Care of Your 'Girls'."
The screening represents a new phase in genetic testing on embryos, because it looks at a gene that poses a risk, rather than a disease itself, said Dr. Sherman Silber, director of the Infertility Center of St. Louis at St. Luke's Hospital.
He said that the idea of prescreening fertilized embryos has been around since 1990, when it was first used to avoid having children with cystic fibrosis.
A similar phenomenon has taken place, Silber noted, in families that have had autistic children and would like to avoid having another.
"For autism already in couples that have children, they're requesting [pre-implantation diagnosis] with sex selection, because, obviously, it's so much more common in boys than in girls," Silber said. "There are couples that have had several children with autism ... that have been requesting sex selection just to have only females."
Dodging Disease ... Before Birth
But, in this case, how much will gene screening help the baby when it reaches the age when breast cancer risks become a reality?
Weiss noted that in the vast majority of cases, breast cancer is related to a change in the genes later in life, and not something inherited.
"Nine out of 10 times, the breast cancer is due to an acquired genetic abnormality," Weiss said.
While ethical experts call this issue a slippery slope, Weiss sees it as a highly beneficial treatment in this circumstance.
"In that family, that gene was a curse," she said. "For whatever reason, every woman seemed to have it."
While the breast cancer gene typically sorts itself out 50-50, Weiss noted that not only did most women in the father's family seem to have the gene, but those who had it inevitably seemed to develop a highly aggressive form of breast cancer.
"It's good to have this option available for families who are profoundly affected by this disease, who want this option," said Weiss. "This story speaks to the importance of genetic counseling, where this decision can be made with best advice, the best information, guidance, respect, and sensitivity -- free of self-righteous judgment."
While the child would still eventually have a risk without the gene, "12 percent is a hell of a lot lower than 40 to 85 percent, the risk that would go along with a genetic abnormality," Weiss said.
A Slippery Slope?
But, while there are not many objectors to screening for a deadly breast cancer gene, the concern is where this will lead.
This case is part of a shift from genes known to cause diseases to genes which simply raise their risk. It may very well move on to conditions that many do not consider diseases, said Arthur Caplan, a bioethicist at the University of Pennsylvania.
Caplan sees the real ethical questions beginning when testing moves to diseases like Alzheimer's.
"It's bad, but it won't affect you until ... later in life," he said, adding,"Sixty years from now, we might cure it."
Finally, Caplan said, testing may move to conditions like shyness, obesity and homosexuality, which some may find undesirable. But many people, if not most, would find it repugnant to treat those as diseases.
"People will say, 'those aren't diseases, those are just differences,'" he said.
Caplan also thinks more genetic testing will shift peoples' views on in vitro fertilization.
"I think we're on the brink of a shift in how we treat IVF," he said. "I think, in the future, it's going to be used to create healthy babies in fertile people."
Given the ability to prevent children from having certain diseases, Caplan sees a rising demand, and that demand changing how in vitro fertilization is covered by insurance companies (it's typically not covered now) and how affordable the expensive treatment becomes.
"More people than just the infertile are going to want a chance to do this testing," he said.
But Silber said that such concerns are unfounded, given the current state of gene testing and in vitro fertilization.
And while he believes insurance companies should cover in vitro fertilization, "I don't see that happening," he said.
"Insurance companies have been rather stupid about that, because they only care about how much they save this year. There's no question, in the long haul, they would save a lot of money."
But, Silber doesn't see "designer babies" as a concern in the near future, if ever.
The reason, Silber said, is that tests can only pick out problems that stem from a single gene. Personality traits, like shyness, are complex, and can't be traced to the work of a single gene.
"I don't see that being possible or conceivable," he said. "You could worry about it if you really didn't understand the genetics of it. ... [Pre-implantation diagnosis] will be restricted to certain defects or diseases, because that's all we have."
Copyright © 2008 ABC News Internet Ventures
How Much Can We Decide About Baby's Genes?
Doctors Mull the Meaning of Next Step in Genetic Screening
By JOSEPH BROWNSTEIN
ABC News Medical Unit
July 1, 2008—
A British couple has used in vitro fertilization to keep their child free of a gene that promotes breast cancer -- an advancement supported by ethicists who worry, at the same time, where it will lead.
The Assisted Conception Unit at University College London Hospital announced this weekend that it had produced the first baby in the United Kingdom guaranteed not to have the breast cancer gene, which is thought to raise the risk of the disease to between 40 and 85 percent.
The father of the unborn child had a family history of breast cancer, with his sister, mother, grandmother and cousin all suffering from it at some point. Doctors scanned 11 fertilized embryos and implanted two of them that were found to be free of the breast cancer gene in the mother, who is now 14 weeks pregnant.
Doctors are quick to caution that this does not come close to eliminating the breast cancer risk entirely.
"Even if the baby doesn't have the breast cancer gene abnormality, that doesn't mean she won't get breast cancer," said Dr. Marisa Weiss, president and founder of breastcancer.org, and author of the upcoming breast cancer book "Taking Care of Your 'Girls'."
The screening represents a new phase in genetic testing on embryos, because it looks at a gene that poses a risk, rather than a disease itself, said Dr. Sherman Silber, director of the Infertility Center of St. Louis at St. Luke's Hospital.
He said that the idea of prescreening fertilized embryos has been around since 1990, when it was first used to avoid having children with cystic fibrosis.
A similar phenomenon has taken place, Silber noted, in families that have had autistic children and would like to avoid having another.
"For autism already in couples that have children, they're requesting [pre-implantation diagnosis] with sex selection, because, obviously, it's so much more common in boys than in girls," Silber said. "There are couples that have had several children with autism ... that have been requesting sex selection just to have only females."
Dodging Disease ... Before Birth
But, in this case, how much will gene screening help the baby when it reaches the age when breast cancer risks become a reality?
Weiss noted that in the vast majority of cases, breast cancer is related to a change in the genes later in life, and not something inherited.
"Nine out of 10 times, the breast cancer is due to an acquired genetic abnormality," Weiss said.
While ethical experts call this issue a slippery slope, Weiss sees it as a highly beneficial treatment in this circumstance.
"In that family, that gene was a curse," she said. "For whatever reason, every woman seemed to have it."
While the breast cancer gene typically sorts itself out 50-50, Weiss noted that not only did most women in the father's family seem to have the gene, but those who had it inevitably seemed to develop a highly aggressive form of breast cancer.
"It's good to have this option available for families who are profoundly affected by this disease, who want this option," said Weiss. "This story speaks to the importance of genetic counseling, where this decision can be made with best advice, the best information, guidance, respect, and sensitivity -- free of self-righteous judgment."
While the child would still eventually have a risk without the gene, "12 percent is a hell of a lot lower than 40 to 85 percent, the risk that would go along with a genetic abnormality," Weiss said.
A Slippery Slope?
But, while there are not many objectors to screening for a deadly breast cancer gene, the concern is where this will lead.
This case is part of a shift from genes known to cause diseases to genes which simply raise their risk. It may very well move on to conditions that many do not consider diseases, said Arthur Caplan, a bioethicist at the University of Pennsylvania.
Caplan sees the real ethical questions beginning when testing moves to diseases like Alzheimer's.
"It's bad, but it won't affect you until ... later in life," he said, adding,"Sixty years from now, we might cure it."
Finally, Caplan said, testing may move to conditions like shyness, obesity and homosexuality, which some may find undesirable. But many people, if not most, would find it repugnant to treat those as diseases.
"People will say, 'those aren't diseases, those are just differences,'" he said.
Caplan also thinks more genetic testing will shift peoples' views on in vitro fertilization.
"I think we're on the brink of a shift in how we treat IVF," he said. "I think, in the future, it's going to be used to create healthy babies in fertile people."
Given the ability to prevent children from having certain diseases, Caplan sees a rising demand, and that demand changing how in vitro fertilization is covered by insurance companies (it's typically not covered now) and how affordable the expensive treatment becomes.
"More people than just the infertile are going to want a chance to do this testing," he said.
But Silber said that such concerns are unfounded, given the current state of gene testing and in vitro fertilization.
And while he believes insurance companies should cover in vitro fertilization, "I don't see that happening," he said.
"Insurance companies have been rather stupid about that, because they only care about how much they save this year. There's no question, in the long haul, they would save a lot of money."
But, Silber doesn't see "designer babies" as a concern in the near future, if ever.
The reason, Silber said, is that tests can only pick out problems that stem from a single gene. Personality traits, like shyness, are complex, and can't be traced to the work of a single gene.
"I don't see that being possible or conceivable," he said. "You could worry about it if you really didn't understand the genetics of it. ... [Pre-implantation diagnosis] will be restricted to certain defects or diseases, because that's all we have."
Copyright © 2008 ABC News Internet Ventures
Christina Applegate's Double Mastectomy: FAQ
Christina Applegate's Double Mastectomy: FAQ: "Article Link: http://www.webmd.com/breast-cancer/news/20080820/christina-applegates-mastectomy-faq
Christina Applegate's Mastectomy: FAQ
Breast Cancer Survivor Christina Applegate Opts for Preventive Double Mastectomy and Breast Reconstructive Surgery
By Miranda Hitti
WebMD Health News
Reviewed by Louise Chang, MD
Christina Applegate's Mastectomy: FAQ
Breast Cancer Survivor Christina Applegate Opts for Preventive Double Mastectomy and Breast Reconstructive Surgery
By Miranda Hitti
WebMD Health News
Reviewed by Louise Chang, MD
Aug. 20, 2008 -- Actress Christina Applegate recently had both breasts removed in an effort to prevent her breast cancer from returning and said that she will get breast reconstruction.
Applegate, 36, star of the ABC comedy Samantha Who?, announced her breast cancer diagnosis earlier this month. Yesterday, she told ABC's Good Morning America that she is now "absolutely, 100% clean and clear" of cancer.
Before getting her preventive (prophylactic) double mastectomy three and half weeks ago, Applegate had two lumpectomies -- and only had cancer in one breast, according to Good Morning America -- and took a gene test that showed that she had the BRCA1 gene mutation, which makes breast cancer and ovarian cancer more likely.
Applegate called her mastectomy decision "tough" but the "most logical" possibility for her. She said she based her choice on her family history -- her mother has had breast cancer and cervical cancer -- and her BRCA1 gene.
Is Applegate's approach to breast cancer one that would work for other breast cancer patients? And what will the reconstruction process -- for Applegate and for other women -- be like?
WebMD talked with four doctors -- and with a breast cancer survivor who made some of the same choices that Applegate did -- about preventive mastectomy and breast reconstructive surgery. None of the doctors who talked to WebMD are treating Applegate.
Did Applegate make a good choice?
"I think she did the absolute right thing, and she did it the right way," says Jay Brooks, MD, FACP, chief of hematology/oncology and chief of staff at the Ochsner Health System in Baton Rouge, La.
"She underwent lumpectomy and then, when she got the information back from the genetic testing, she was able to have a little time to discern what this all meant and then she went forward to have the prophylactic mastectomies, which are clearly the best treatment to reduce her risk of ever developing breast cancer [again] by at least 90%," says Brooks.
"I think that's a very reasonable approach," says Brooks. "It may not be right for every patient, but I think especially if you have this genetic mutation -- it's such a highly active mutation in terms of increasing the risk of breast cancer -- that it's certainly something that I would recommend to one of my family members or to my patients, and I do," says Brooks, noting that only about 5% to 7% of breast cancer patients have cases similar to Applegate's.
"Because her risk of an additional breast cancer is extremely high, in the range of one in two, why take a chance?" asks Eli Avisar, MD, breast cancer surgeon at the Sylvester Comprehensive Cancer Center at the University of Miami Miller School of Medicine.
Gisella Alvarez, RNC, is a nurse at Mercy Medical Center. Two years ago, at age 44, Alvarez learned she had stage I breast cancer in one breast. She decided to have both breasts removed and get breast reconstruction. Her case wasn't exactly like Applegate's -- Alvarez had an elderly aunt who had had breast cancer but she hadn't had the BRCA gene test -- but she took a similar approach.
Alvarez says Applegate's decision was "brave" and "smart because life is too short. It's not worth living your life worrying every six months when you have to go back for tests and more tests -- and hoping that it's not going to come back. With this way, you really increase your chances of not having to worry about it again and live your life."
Does double mastectomy totally eliminate her risk?
Almost, but not quite; there's an estimated 5% chance of breast cancer after such a procedure, notes Neil Friedman, MD, FACS, medical director of the Hoffberger Breast Center at Mercy Medical Center in Baltimore.
He explains that there's no clear line where breast tissue ends.
"When you're in the operating room, it's not like you can look and say, 'All that yellow tissue is breast tissue and all that white tissue is fat.' So you try and take all the tissue out that you can, but you can leave isolated breast cells underneath the skin. Everybody does; there's not a surgeon in the world that can do that and remove all of the cells. That's why there is a small risk of having a breast cancer develop in one of those cells -- pretty uncommon, but it can happen," says Friedman.
Friedman says that immediate reconstruction -- starting the process at the time of the mastectomy -- "is something that should be offered to all patients."
"I offer it to all of my patients and if I think there's a reason why they shouldn't get it from a medical perspective, then I [explain why] I think it's advisable to delay the reconstruction. But they should at least have that conversation with their surgeons," says Friedman, adding that breast reconstruction is not an insurance issue, because it "must be paid for by federal law," regardless of the patient's age.
What about the emotional aspect of the decision?
"It is a difficult decision and an emotional decision, and it is not that simple to decide to lose your breast," says Avisar.
Alvarez says she took her time before choosing preventive double mastectomy. For her, breasts were "such a part of being a woman, so there [were] a lot of emotional factors" to consider.
"Little by little, I just went through the options," she says. One by one, she ruled out her other choices and felt that after mastectomy, she would "be able to live my life peacefully and life goes on."
Alvarez also said it helped that she works on a floor of Mercy Medical Center where women recover from mastectomy and breast reconstruction, so she knew what to expect. She also had seen women be upset by their appearance immediately after mastectomy.
"They just don't want to look at themselves ... it's an extremely difficult experience," says Alvarez. "I never really had a problem with that only because I knew what that was going to be like."
What's involved in breast reconstruction?
The first step is creating the breast or breasts, which can be done in two ways:
- Option No. 1: Transplant your own fat [autologous tissue] from the belly or elsewhere in the body and implant it where the breasts were.
- Option No. 2: Get saline or silicone implants.
What's involved in breast reconstruction? continued...
Which option to pick? "Oftentimes, it comes down to a woman's preference," says Brendan Collins, MD, plastic and reconstructive surgeon at Mercy Medical Center in Baltimore.
Each approach has pros and cons.
With autologous tissue, you "don't have to worry about potential problems related to the implant," such as eventually needing to replace it, says Collins. But it's a longer surgery and recovery process, since two parts of your body -- your breast area and the place where the fat came from -- need to heal. And very lean women may not have enough fat to transplant as breasts.
Getting artificial implants for breast reconstruction doesn't happen right away. First, surgeons typically insert tissue expanders at the time of mastectomy. The tissue expanders "are like a salt water balloon that's put underneath the muscle," says Friedman.
Doctors inflate those tissue expanders gradually to stretch the skin and make room for a permanent salt water or silicone implant. Doing that is an in-office procedure in which doctors use a syringe to inject more fluid into the tissue expander, Avisar explains.
That goes on for several months, until the breast reaches the desired size, and then surgery is done to replace the expanders with permanent implants.
After that, surgeons can create an artificial nipple by raising some of the new breast's tissue, and then tattoo on coloring to simulate the areola (the dark area around the nipple). The new breast may also need some cosmetic adjustments.
How long does breast reconstruction take?
"Give it about a year," says Collins.
For Alvarez, her process took a year and three months. "You have to be so patient," she says. With all reconstructions, "it takes a long time until you finally have your final result."
She kept a photographic journal of her progress and shared it with her colleagues. "I just made it like an educational opportunity. ... We never know what the patients go through when they leave."
Does it hurt?
Alvarez says she had pain after the mastectomy, but "the other processes were not as uncomfortable."
After the mastectomy, Alvarez says she was "uncomfortable for about a week and a half" and did occupational therapy exercises to get her range of motion back.
What kind of reconstruction is Applegate getting?
She hasn't said. But Good Morning America reports that her reconstruction will take eight months.
"The majority of patients ... don't go the whole 9 yards," says Avisar. "Most of them do the first step. Many of them never come back to have the nipple and areola reconstructed. They are just tired and they have had enough."
Applegate may be different. "She is an actress and may be more aware of her body," says Avisar.
Are patients satisfied with the reconstructed breast?
It depends on their expectations and the cosmetic results.
"If a patient is expecting to be happy because she's alive, she's going to be happier than the patient who puts, as the most important thing, her appearance -- and may be disappointed because what she sees is not what she pictured," says Avisar.
Reconstruction is an alternative to wearing a prosthetic breast, but it is totally different" from getting breast implants for cosmetic reasons because it's not a real breast.
After reconstruction, "we do expect you to be able, with clothing on, to look normal without having to have prostheses," says Avisar. "But if the expectation is for the breast to feel normal and to look absolutely normal in front of the mirror without any cover on it, this is probably not going to be the case."
Alvarez says she is "very happy with the results" and shares her story with patients, since she works on a floor of Mercy Medical Center where mastectomy and breast reconstruction patients recover.
Her advice: Talk to your surgeons. "I was very concerned about my cleavage. I talked to my surgeons and made sure that I kept it." She says she wound up with "fabulous cleavage" and a "great set of new, fake breasts."
© 2008 WebMD, LLC. All rights reserved.
Designer Babies -- Printout -- TIME
Designer Babies -- Printout -- TIME: "Monday, Jan. 11, 1999
Designer Babies
By MICHAEL D. LEMONICK
Designer Babies
By MICHAEL D. LEMONICK
Until just a few years ago, making a baby boy or a baby girl was pretty much a hit-or-miss affair. Not anymore. Parents who have access to the latest genetic testing techniques can now predetermine their baby's sex with great accuracy--as Monique and Scott Collins learned to their delight two years ago, when their long-wished-for daughter Jessica was born after genetic prescreening at a fertility clinic in Fairfax, Va.
And baby Jessica is just the beginning. Within a decade or two, it may be possible to screen kids almost before conception for an enormous range of attributes, such as how tall they're likely to be, what body type they will have, their hair and eye color, what sorts of illnesses they will be naturally resistant to, and even, conceivably, their IQ and personality type.
In fact, if gene therapy lives up to its promise, parents may someday be able to go beyond weeding out undesirable traits and start actually inserting the genes they want--perhaps even genes that have been crafted in a lab. Before the new millennium is many years old, parents may be going to fertility clinics and picking from a list of options the way car buyers order air conditioning and chrome-alloy wheels. "It's the ultimate shopping experience: designing your baby," says biotechnology critic Jeremy Rifkin, who is appalled by the prospect. "In a society used to cosmetic surgery and psychopharmacology, this is not a big step."
The prospect of designer babies, like many of the ethical conundrums posed by the genetic revolution, is confronting the world so rapidly that doctors, ethicists, religious leaders and politicians are just starting to grapple with the implications--and trying to decide how they feel about it all.
They still have a bit of time. Aside from gender, the only traits that can now be identified at the earliest stages of development are about a dozen of the most serious genetic diseases. Gene therapy in embryos is at least a few years away. And the gene or combination of genes responsible for most of our physical and mental attributes hasn't even been identified yet, making moot the idea of engineering genes in or out of a fetus. Besides, say clinicians, even if the techniques for making designer babies are perfected within the next decade, they should be applied in the service of disease prevention, not improving on nature.
But what doctors intend is not necessarily what's going to happen. Indeed, the technology that permitted the Collinses family to pick the sex of their child was first used to select for health, not gender per se. Adapting a technique used on livestock, researchers at the Genetics & IVF Institute in Fairfax took advantage of a simple rule of biology: girls have two X chromosomes, while boys have one X and one Y. The mother has only Xs to offer, so the balance of power lies with the father--specifically with his sperm, which brings either an X or a Y to the fertilization party.
As it happens, Y chromosomes have slightly less DNA than Xs. So by staining the sperm's DNA with a nontoxic light-sensitive dye, the Virginia scientists were able to sort sperm by gender--with a high rate of success--before using them in artificial insemination. The first couple to use the technique was looking to escape a deadly disease known as X-linked hydrocephalus, or water on the brain, which almost always affects boys.
But while the technique is ideal for weeding out this and other X-linked disorders, including hemophilia, Duchenne muscular dystrophy and Fragile X syndrome, most patients treated at Genetics & IVF want to even out their families--a life-style rather than a medical decision. The Fairfax clinic has been willing to help, but such a trend doesn't sit well with some other practitioners. "Our view at the moment," says Dr. Zev Rosenwaks, director of the Center for Reproductive Medicine and Infertility at Cornell Medical Center in New York City, "is that these techniques should be used for medical indications, not family balancing."
But now that parents know that the technology is available, and that at least some clinics will let them choose a child's gender for nonmedical reasons, it may be too late to go back. In a relatively short time, suggests Princeton University biologist Lee Silver, whose book Remaking Eden addresses precisely these sorts of issues, sex selection may cease to be much of an issue. His model is in vitro fertilization, the technique used to make "test-tube" babies. "When the world first learned about IVF two decades ago," he says, "it was horrifying to most people, and most said that they wouldn't use it even if they were infertile. But growing demand makes it socially acceptable, and now anybody who's infertile demands IVF."
That's not to say in vitro fertilization hasn't created its own set of ethical problems, including custody battles over fertilized embryos that were frozen but never used, questions about what to do with the embryos left over after a successful pregnancy, and the increased health risks posed by multiple births. Yet no one is suggesting the practice be stopped. Infertile couples would never stand for it.
Sex selection will undoubtedly raise knotty issues as well. Societies that value boys more highly than girls, including China and India, are already out of balance; this could tip the scales even further. Such an outcome is unlikely in the U.S., where surveys show that equal numbers of parents want girls as boys. But the same polls report that Americans believe an ideal family has a boy as the oldest child. Boys often end up being more assertive and more dominant than girls, as do firstborn children; skewing the population toward doubly dominant firstborns could make it even harder to rid society of gender-role stereotypes.
The ethical issues raised by techniques emerging from the genetics labs are likely to be even more complex. What if parents can use preimplantation genetic diagnosis to avoid having kids with attention-deficit disorder, say, or those predestined to be short or dullwitted or predisposed to homosexuality? Will they feel pressure from friends and relations to do so? And will kids who are allowed to be born with these characteristics be made to feel even more like second-class citizens than they do now?
Even thornier is the question of what kinds of genetic tinkering parents might be willing to elect to enhance already healthy children. What about using gene therapy to add genes for HIV resistance or longevity or a high IQ? What about enhancements that simply stave off psychological pain--giving a child an attractive face or a pleasing personality? No one is certain when these techniques will be available--and many professionals protest that they're not interested in perfecting them. "Yes, theoretically you could do such things," says Baylor University human-reproduction specialist Larry Lipshultz. "It's doable, but I don't know of anyone doing it."
Sooner or later, however, someone will do it. In countries with national health services, such as Canada and Britain, it tends to be easier to dictate what sorts of genetic enhancement will be permitted and what will be forbidden. But in the U.S., despite the growth of managed care, there will always be people with enough money--or a high enough limit on their credit cards--to pay for what they want. "Typically," says Princeton's Silver, "medical researchers are moved by a desire to cure disease more effectively. Reprogenetics [a term Silver coined] is going to be driven by parents, or prospective parents, who want something for their children. It's the sort of demand that could explode."
Silver even contemplates a scenario in which society splits into two camps, the "gen-rich" and the "gen-poor," those with and those without a designer genome. The prospect is disturbing, but trying to stop it might entail even more disturbing choices. "There may be problems," admits James Watson, whose co-discovery of the structure of DNA in 1953 made all this possible. "But I don't believe we can let the government start dictating the decisions people make about what sorts of families they'll have."
--Reported by David Bjerklie and Alice Park/New York and Dick Thompson/Washington
With reporting by David Bjerklie and Alice Park/New York and Dick Thompson/Washington
- Find this article at:
- http://www.time.com/time/magazine/article/0,9171,989987,00.html
23andMe - Health and Traits - List of Conditions
23andMe - Health and Traits - List of Conditions: "complete list
Your 23andMe scan includes genetic analysis on all of the following diseases, traits, and conditions. This list grows every month as new research is published.
Your 23andMe scan includes genetic analysis on all of the following diseases, traits, and conditions. This list grows every month as new research is published.
Clinical Reports (23)
Clinical Reports give you information about conditions and traits for which there are genetic associations supported by multiple, large, peer-reviewed studies. Those associations must also have a substantial influence on a person's chances of developing the disease or having the trait. Because these associations are widely regarded as reliable, we use them to develop quantitative estimates and definitive explanations of what they mean for you.
Research Reports (72)
Research Reports give you information from research that has not yet gained enough scientific consensus to be included in our Clinical Reports. This research is generally based on high-quality but limited scientific evidence. Because these results have not yet been demonstrated through large, replicated studies, we do not perform complete quantitative analyses of their effects. We do, however, explain how they may–if confirmed–affect your odds of having or developing a trait, condition or disease.
Research Reports also includes scientifically accepted, established research that does not have a dramatic influence on a person's risk for a disease.
- Alcohol Dependence
- Aneurysm
- Ankylosing Spondylitis
- Antidepressant Response
- Asthma
- Atrial Fibrillation
- Attention-Deficit Hyperactivity Disorder
- Avoidance of Errors
- Back Pain
- Baldness
- Beta-Blocker Response
- Bipolar Disorder
- Birth Weight
- Bladder Cancer
- Blood Glucose
- Breast Cancer
- Breast Cancer
- C-reactive Protein Level
- Caffeine Metabolism
- Celiac Disease
- Chronic Lymphocytic Leukemia
- Cluster Headaches
- Colorectal Cancer
- Creutzfeldt-Jakob Disease
- Developmental Dyslexia
- Endometriosis
- Esophageal Cancer
- Eye Color
- Food Preference
- Freckling
- Gallstones
- Glaucoma
- Gout
- HDL Cholesterol Level
- HIV Progression
- Hair Color
- Heart Attack
- Height
- Heroin Addiction
- High Blood Pressure (Hypertension)
- Kidney Disease
- Larynx Cancer
- Longevity
- Lou Gehrig's Disease (ALS)
- Lung Cancer
- Lupus (Systemic Lupus Erythematosus)
- Male Infertility
- Measures of Intelligence
- Memory
- Multiple Sclerosis
- Neuroblastoma
- Nicotine Dependence
- Obesity
- Obesity
- Obsessive-Compulsive Disorder
- Odor Detection
- Oral and Throat Cancer
- Osteoarthritis
- Pain Sensitivity
- Peripheral Arterial Disease
- Persistent Fetal Hemoglobin
- Placental Abruption
- Pre-eclampsia
- Progressive Supranuclear Palsy
- Restless Legs Syndrome
- Schizophrenia
- Sjögren's Syndrome
- Skin Cancer
- Stomach Cancer
- Tardive Dyskinesia
- Tourette's Syndrome
- Uterine Fibroids
How accurate is the genetic data you provide?
23andMe analyzes your DNA using a genotyping chip. The chip we use is an Illumina HumanHap550+ Genotyping BeadChip. 23andMe has also added a customized set of SNPs to the chip.
The accuracy of the chip can be measured in two ways:
First, the HumanHap 550 chip has, on average, a 99% call rate. That means that we receive usable data for, on average, 99% of the SNPs on the HumanHap 550 chip. The remaining 1% of SNPs that do not meet our confidence-based performance standards are labeled "No Call." Unfortunately, it is not possible to guarantee data for every SNP without making the chip many times more expensive.
Second, the reproducibility of the chip is over 99.9%. This means that if we ran the same DNA a second time on a new chip, more than 99.9% of the data would be the same compared to data from the first run.
These performance measures are guaranteed by Illumina for the off-the-shelf HumanHap550 Genotyping BeadChip. Based on previous experience, we expect to exceed this performance. More technical information on the performance of the chip can be found on the manufacturer's website.
Based on internal data, the custom chip has a reproducibility of ~99.6% and a call rate of ~99.9% for the SNPs reported in Health and Traits.
Monday, December 8, 2008
The difference between a text box and a frame - Word - Microsoft Office Online
The difference between a text box and a frame - Word - Microsoft Office Online: "The difference between a text box and a frame
Applies to: Microsoft Office Word 2003
Applies to: Microsoft Office Word 2003
Text boxes and frames are both containers for text that can be positioned on a page and sized.
If you are familiar with earlier versions of Microsoft Word, you used frames when you wanted to wrap text around a graphic. Now, you wrap text around a graphic of any size or shape without first inserting it in a text box or frame.
However, you must use a frame instead of a text box when you want to position text or graphics that contain certain items.
Use a text box when you want to do any of the following:
- Make text flow from one part of a document to another part by linking the text boxes.
- Format the text container by using the options on the Drawing toolbar (toolbar: A bar with buttons and options that you use to carry out commands. To display a toolbar, press ALT and then SHIFT+F10.). You can apply 3-D effects, shadows, border styles and colors, fills, and backgrounds.
- Rotate and flip text boxes.
- Change the orientation of text in a text box by using the Text Direction command (Format menu).
- Group your text containers and change the alignment or distribution of them as a group.
Use frames when your text or graphics contain the following:
- Comments (comment: A note or annotation that an author or reviewer adds to a document. Microsoft Word displays the comment in a balloon in the margin of the document or in the Reviewing Pane.), as indicated by comment marks (comment mark: Each time you add a comment to a document, Microsoft Word inserts a comment mark in the document. Comment marks appear when you click Markup on the View menu.).
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Sunday, December 7, 2008
Koreans Complete Human Genome Map
Koreans Complete Human Genome Map: "Koreans Complete Human Genome Map
Dr. Kim Seong-jin
Gachon University of
Medicine & Science
By Kim Tong-hyung
Staff Reporter
Korean scientists sequencing the human genome said they have finished the job after just seven months, an achievement that may eventually reveal new opportunities for the treatment of genetic diseases.
The subject of the latest genome sequencing was Kim Seong-jin, a cancer specialist from Gachon University of Medicine and Science, who became just the fourth individual ever, and the first Korean, to have his DNA blueprint decoded.
The individual genome sequence of American biologist Craig Venter was published in 2007, followed by those of DNA pioneer James Watson in April. Chinese scientist Yang Huanming became the first Asian last month to have his genome sequenced.
The first Reference Sequence of the human genome was announced in 2003, a result of collaborative efforts of 16 laboratories in the United States, Britain, Germany, France, Japan and China.
``Dr. Watson, who won a Nobel prize for his discovery of the double-helix structure of the DNA, revealed his DNA sequence to advance studies in personalized medical treatment,'' said Kim, who led a team of researchers from Gachon University and the Korean Bioinformation Center (KOBIC) for the project.
``I threw myself into the project after being inspired by Dr. Watson's book, and I am honored to reveal my DNA sequence for the development of medical research,'' he said.
Genome sequencing is considered crucial in assessing the risks of genetic diseases, with the analysis of genetic makeup allowing doctors to predict which diseases individuals are susceptible to.
Scientists have already identified specific genetic sequences that could be linked to certain conditions such as cancer, leukemia, diabetes, depression and alcoholism.
The completion of Kim's personal genome sequence is claimed as a breakthrough in efforts to establish a reference genome for Koreans, which would introduce advancements in medical genetics and ``customized'' treatment for patients.
Currently, Korean researchers are relying on the reference genome provided by the U.S. National Institutes of Health (NIH) to identify DNA sequence variations such as SNP (single nucleotide polymorphism), which explain differences in human traits and disease susceptibility.
The research was also in line with the goal of making genome sequencing more commercially viable to patients.
The seven months of research to complete the genome sequence cost about 1.05 billion won ($716,000) including 800 million won for the computer system used for the decoding. In comparison, Venter's genome sequencing took four years and about 100 billion won ― Watson's project took about four months and 1.5 billion won, Kim said.
Scientists believe that the cost could drop to around $1,000 in two to three years, which would allow the market to ``explode.''
``There are only four people now who have had their genome sequence revealed, but that number could reach the thousands in the near future,'' said Yonsei University researcher Paik Young-ki, who participated in the project.
``The latest achievement will open the era of personalized medical treatment and also help research into disease-related protein and drug development,'' he said.
Kim's team finished the mapping of 20.7 billion DNA base pairs, compared to the 2.9 billion base pairs revealed in the reference genome project.
His genome sequence reveals that genetic variations between humans could be greater than previously thought. Kim's genome map revealed a total of 3.23 million SNPs, including 1.58 million SNPs that weren't found in the genome sequences of Venter, Watson and Yang.
thkim@koreatimes.co.kr
Dr. Kim Seong-jin
Gachon University of
Medicine & Science
By Kim Tong-hyung
Staff Reporter
Korean scientists sequencing the human genome said they have finished the job after just seven months, an achievement that may eventually reveal new opportunities for the treatment of genetic diseases.
The subject of the latest genome sequencing was Kim Seong-jin, a cancer specialist from Gachon University of Medicine and Science, who became just the fourth individual ever, and the first Korean, to have his DNA blueprint decoded.
The individual genome sequence of American biologist Craig Venter was published in 2007, followed by those of DNA pioneer James Watson in April. Chinese scientist Yang Huanming became the first Asian last month to have his genome sequenced.
 |
The first Reference Sequence of the human genome was announced in 2003, a result of collaborative efforts of 16 laboratories in the United States, Britain, Germany, France, Japan and China.
``Dr. Watson, who won a Nobel prize for his discovery of the double-helix structure of the DNA, revealed his DNA sequence to advance studies in personalized medical treatment,'' said Kim, who led a team of researchers from Gachon University and the Korean Bioinformation Center (KOBIC) for the project.
``I threw myself into the project after being inspired by Dr. Watson's book, and I am honored to reveal my DNA sequence for the development of medical research,'' he said.
Genome sequencing is considered crucial in assessing the risks of genetic diseases, with the analysis of genetic makeup allowing doctors to predict which diseases individuals are susceptible to.
Scientists have already identified specific genetic sequences that could be linked to certain conditions such as cancer, leukemia, diabetes, depression and alcoholism.
The completion of Kim's personal genome sequence is claimed as a breakthrough in efforts to establish a reference genome for Koreans, which would introduce advancements in medical genetics and ``customized'' treatment for patients.
Currently, Korean researchers are relying on the reference genome provided by the U.S. National Institutes of Health (NIH) to identify DNA sequence variations such as SNP (single nucleotide polymorphism), which explain differences in human traits and disease susceptibility.
The research was also in line with the goal of making genome sequencing more commercially viable to patients.
The seven months of research to complete the genome sequence cost about 1.05 billion won ($716,000) including 800 million won for the computer system used for the decoding. In comparison, Venter's genome sequencing took four years and about 100 billion won ― Watson's project took about four months and 1.5 billion won, Kim said.
Scientists believe that the cost could drop to around $1,000 in two to three years, which would allow the market to ``explode.''
``There are only four people now who have had their genome sequence revealed, but that number could reach the thousands in the near future,'' said Yonsei University researcher Paik Young-ki, who participated in the project.
``The latest achievement will open the era of personalized medical treatment and also help research into disease-related protein and drug development,'' he said.
Kim's team finished the mapping of 20.7 billion DNA base pairs, compared to the 2.9 billion base pairs revealed in the reference genome project.
His genome sequence reveals that genetic variations between humans could be greater than previously thought. Kim's genome map revealed a total of 3.23 million SNPs, including 1.58 million SNPs that weren't found in the genome sequences of Venter, Watson and Yang.
thkim@koreatimes.co.kr
Korean Genome Map
Korean Genome Map: "12-05-2008 17:18
Nation Takes One Step Closer to Bioengineering Frontier
Good news is increasingly hard to find, but Korean scientists' successful sequencing of the human genome apparently belongs to it.
It is not just because the subject of the latest genome sequencing, Kim Seong-jin, is only the fifth such person in the world, following two Americans, one Chinese and one Nigerian, but because the nation has long been smarting from the shock of disgraced cloning expert, Hwang Woo-suk, and is ready to start again.
Laymen cannot know all the details and significance of a specific achievement in the up-to-the-second science of genetic engineering, but experts say some countries or corporations will be able to supply the entire genetic map of individuals in USB memories in as early as 2013 and for as little as $1,000. Welcome to the era of preventive or ``tailor-made'' medical services.
These advances are not without their critics and adverse side effects of course. Foreign media carried reports recently about an actress who had her breasts removed as she possessed the gene that made her susceptible to that form of cancer. Some Korean women were immediately beginning to ask for similar operations, embarrassing medical doctors. Genes are not the only determinant for the occurrence of the disease, which takes place for various other reasons, including environmental and individual differences.
Another side effect is possible discrimination in employment, marriage and most probably in insurance coverage against people with problematic genes.
Based on new research suggesting that scientists may be able to recreate an extinct woolly mammoth from its long-frozen DNA, some are hastily predicting the film ``Jurassic Park'' turning into reality. Others go further: By citing the production of an artificial genome of bacteria by U.S. scientists last year, they even are talking as if the ``Brave New World'' of Aldous L. Huxley could be just around the corner.
All this is still idle talk, as some local scientists are rather cautious in acknowledging the accomplishment of Kim and his team _ consisting of Gachon University and the Korean Bioinformation Center (KOBIC) researchers _ questioning whether they have undergone sufficient sequencing analysis to back it up.
Caution may do no harm, but most Koreans must be hoping the latest feat will serve as an occasion for the nation's bioengineering sector to accelerate its research to catch up with the United States and other front-runners in what some economic experts say could emerge as the ``second semiconductor industry.''
The IT industry was crucial in Korea's overcoming the first financial crisis of 11 years ago. It would not be too much if Koreans hope _ albeit somewhat prematurely _ the bio industry would prove to be equally helpful in tiding over the current crisis
Nation Takes One Step Closer to Bioengineering Frontier
Good news is increasingly hard to find, but Korean scientists' successful sequencing of the human genome apparently belongs to it.
It is not just because the subject of the latest genome sequencing, Kim Seong-jin, is only the fifth such person in the world, following two Americans, one Chinese and one Nigerian, but because the nation has long been smarting from the shock of disgraced cloning expert, Hwang Woo-suk, and is ready to start again.
Laymen cannot know all the details and significance of a specific achievement in the up-to-the-second science of genetic engineering, but experts say some countries or corporations will be able to supply the entire genetic map of individuals in USB memories in as early as 2013 and for as little as $1,000. Welcome to the era of preventive or ``tailor-made'' medical services.
These advances are not without their critics and adverse side effects of course. Foreign media carried reports recently about an actress who had her breasts removed as she possessed the gene that made her susceptible to that form of cancer. Some Korean women were immediately beginning to ask for similar operations, embarrassing medical doctors. Genes are not the only determinant for the occurrence of the disease, which takes place for various other reasons, including environmental and individual differences.
Another side effect is possible discrimination in employment, marriage and most probably in insurance coverage against people with problematic genes.
Based on new research suggesting that scientists may be able to recreate an extinct woolly mammoth from its long-frozen DNA, some are hastily predicting the film ``Jurassic Park'' turning into reality. Others go further: By citing the production of an artificial genome of bacteria by U.S. scientists last year, they even are talking as if the ``Brave New World'' of Aldous L. Huxley could be just around the corner.
All this is still idle talk, as some local scientists are rather cautious in acknowledging the accomplishment of Kim and his team _ consisting of Gachon University and the Korean Bioinformation Center (KOBIC) researchers _ questioning whether they have undergone sufficient sequencing analysis to back it up.
Caution may do no harm, but most Koreans must be hoping the latest feat will serve as an occasion for the nation's bioengineering sector to accelerate its research to catch up with the United States and other front-runners in what some economic experts say could emerge as the ``second semiconductor industry.''
The IT industry was crucial in Korea's overcoming the first financial crisis of 11 years ago. It would not be too much if Koreans hope _ albeit somewhat prematurely _ the bio industry would prove to be equally helpful in tiding over the current crisis
ABC News: No to 'Deaf' Embryos
ABC News: No to 'Deaf' Embryos: "No to 'Deaf' Embryos
New Fertility Bill Would Make It Illegal for Deaf Britons to Choose 'Deaf' Embryos
By MALAIKA BOVA
LONDON, March 17, 2008
New Fertility Bill Would Make It Illegal for Deaf Britons to Choose 'Deaf' Embryos
By MALAIKA BOVA
LONDON, March 17, 2008
Tomato Lichy and his partner, Paula Garfield, are deaf and have a 3-year-old deaf daughter. Now they want to have another child using in vitro fertilization, hoping the newborn will be deaf, too.
(AP/ABC News)
But fertility legislation under debate in the U.K. Parliament could make it illegal for such couples to use embryos that have a known genetic flaw when healthy embryos are available.
The human embryology and fertilization bill would allow parents to decide whether to have their embryos screened before implantation into the womb.
If they don't, Lichy and Garfield could take their chances in the hopes that a deaf one is chosen. If they do, they will have to opt for the "normal" embryos over the others.
In response to what they believe is a discriminatory bill, Lichy and Garfield are determined to challenge the traditional concept of disability. Rather than seeing deafness as an impairment, they perceive it as the key to a different world with its own language, its own culture and its own history.
They consider themselves part of a minority group, like any other that might have perceived flaws or disabilities. Yet, as Lichy puts it in an interview with ABC News, "that doesn't mean we must kill off anyone who is not a straight white male Christian."
Lichy and Garfield, Londoners who communicated with ABC News via e-mail and text messaging, said they lead a perfectly normal life.
She runs a theater company that regularly produces plays in sign language, and he is a governor at their daughter's school, as well as a lecturer at the Tate Modern museum. They go to see Shakespeare and Pixar films at the local cinema, with subtitles. They pick up their daughter at school and get stuck in traffic jams, just like everyone else. "I can't see where our life is stunted," Lichy said.
They claim that the bill doesn't acknowledge their normality, believing it implicitly states that deaf people are not equal to people who hear.
This is a concept they also refuse to accept for the sake of their daughter, Molly.
She is a child growing up in the belief that deaf is good and normal, Lichy and Garfield said. She is perfectly at ease with sign language and is learning how to speak. Her parents say it would be hard to explain to her that she can't have a deaf sister or a brother because the law says that deaf embryos shouldn't be knowingly accepted.
BBC - Science & Nature - Horizon
BBC - Science & Nature - Horizon: "Who's Afraid of Designer Babies?
Without genetic technology Ruiaridh would not have been born, but does that make him a 'designer baby'?
Designer babies Q&As
Programme transcript
Without genetic technology Ruiaridh would not have been born, but does that make him a 'designer baby'?
Designer babies Q&As
Programme transcript
Every parent wants their child to have the best in life. But would this extend to picking the best genes for them? To date, genetic technology has only been used to treat serious disease in children. But as ways are developed to manipulate our DNA, there are those who think that parents will inevitably want to choose their children's genes, and create 'designer babies'.
A designer baby today
Philippa Handyside's son Ruiaridh is a genetically selected baby. Some might call him a designer baby. But Philippa wasn't aiming to create a perfect child and there is nothing unusual about her child's genes. Genetic technology seemed the only way she could have a baby at all.
Philippa had a problem with her DNA. It didn't affect her health, but it meant that most of her eggs didn't carry all the genes needed for a baby to grow healthily. The result was that each time she became pregnant, she miscarried.
Doctors suggested that Philippa try a technique called pre-implantation genetic diagnosis (PGD). Using PGD scientists can screen embryos outside the womb, long before they develop into babies. They can select just those embryos that carry healthy genes. This ensures the baby is free from genetic abnormalities.
Ruiaridh might have grown from a specially selected embryo, but he's not really a designer baby at all. The embryo was created from one of Philippa's eggs and her husband's sperm, just as in IVF. His genes have not been altered, or enhanced in any way. The doctors simply chose an embryo that didn't carry Philippa's genetic disorder.
It would actually be very difficult to make a true designer baby using PGD. Today, it can only be used to look at one or two genes at a time. On the other hand, most character traits we might want to choose – anything from height to intelligence – are influenced by a whole range of genes.
What's more, there is no way of altering the genes inside an embryo using PGD. If you don't carry the genes to be intelligent, sporty or good-looking, then there's no way any of your embryos will either. To have a real designer baby, we'd need to be able to choose any genes we wanted and insert them into our children.
Inserting new genes
In 1998 Dr French Anderson put forward a radical proposal. He thought he would soon be able to insert new genes into babies in the womb. The idea was to treat genetic diseases caused by a single damaged gene by inserting a new, healthy gene into a foetus's cells.
French Anderson had already used this technique – called gene therapy – in children with faulty white blood cells, with some success. But the cells with healthy genes would eventually die, so the patients would have to have the procedure all over again.
French Anderson wanted to try gene therapy in the womb because then he could get the healthy genes into special blood cells called stem cells. These cells grow all the blood cells in the body. If the healthy gene could be injected into the stem cells, then the patient's body would produce new white blood cells with healthy genes on its own. In short, they would be cured.
But for all Anderson's plans, this technique has never been used on human babies in the womb. There turned out to be problems with gene therapy. In 1999 an 18-year-old died during a gene therapy trial, and there have been cases of children developing leukaemia after gene therapy treatment. For now, using it on babies in the womb is far too risky.
A human clone: the ultimate designer baby
There is however potentially another way to insert genes into an embryo long before birth – cloning.
No scientific discovery has created as much hysteria as the cloning of Dolly the sheep. She was the first mammal cloned from the DNA of an adult cell. It was a process that brought human cloning one step closer. Shortly after Dolly, Polly was born. She wasn't just a clone. A human gene had been added early on in the cloning process. She was a true, genetically modified, "designer sheep".
Since Polly, there has been a flurry of claims that humans have been, or soon will be, cloned. But no one has yet produced evidence that a human clone has been created.Most serious scientists won't even consider the idea of cloning a human. The procedure is not very effective. Less than 10 per cent of non-human cloning attempts are successful. And many of the pregnancies result in miscarriage or deformities. It is a procedure that is simply too dangerous to use to produce a human baby.
But cloning technology is being used on human eggs. Scientists from Newcastle University and the Newcastle Fertility Centre are using cloning to create stem cells. The research has only just begun, but the ultimate aim is to create cloned stem cells from the DNA of a patient with a degenerative disease. These cells could then be turned into whatever types of cells are needed to treat their damaged organs. It could one day lead to cures for diabetes, Alzheimer's or heart disease.
There will always be a risk that genetic technology will be hijacked to create designer children. But for now, the technical difficulties make it unlikely anyone will be able to create a true designer baby in the near future.
Discovery News : Discovery Channel
Discovery News : Discovery Channel: "Altered Human Embryo Decried as 'Designer Baby'
Malcolm Ritter, Associated Press
Malcolm Ritter, Associated Press
May 13, 2008 -- News that scientists have for the first time genetically altered a human embryo is drawing fire from some watchdog groups that say it's a step toward creating "designer babies."
But an author of the study says the work was focused on stem cells. He notes that the researchers used an abnormal embryo that could never have developed into a baby anyway.
"None of us wants to make designer babies," said Dr. Zev Rosenwaks, director of the Center for Reproductive Medicine and Infertility at NewYork-Presbyterian/Weill Cornell Medical Center.
The idea of designer babies is that someday, scientists may insert particular genes into embryos to produce babies with desired traits like intelligence or athletic ability. Some people find that notion repugnant, saying it turns children into designed objects, and would create an unequal society where some people are genetically enriched while others would be considered inferior.
The study appears to be the first report of genetically modifying a human embryo. It was presented last fall at a meeting of the American Society for Reproductive Medicine, but didn't draw widespread public attention then. The result was reported over the weekend by The Sunday Times of London, which said British authorities highlighted the work in a recent report.
Rosenwaks and colleagues did the work with an embryo that had extra chromosomes, making it nonviable. Following a standard procedure used in animals, they inserted a gene that acts as a marker that can be easily followed over time. The embryo cells took up the gene, he said.
Five "designer babies" created for stem cells - 05 May 2004 - New Scientist
Five "designer babies" created for stem cells - 05 May 2004 - New Scientist: "Five 'designer babies' created for stem cells
* 17:36 05 May 2004 by Shaoni Bhattacharya
Five healthy babies have been born to provide stem cells for siblings with serious non-heritable conditions. This is the first time 'saviour siblings' have been created to treat children whose condition is not genetic, says the medical team.
The five babies were born after a technique called preimplantation genetic diagnosis (PGD) was used to test embryos for a tissue type match to the ailing siblings, reports the team, led by Anver Kuliev at the Reproductive Genetics Institute in Chicago, US.
The aim in these cases was to provide stem cells for transplantation to children who are suffering from leukaemia and a rare condition called Diamond-Blackfan anaemia (DBA).
'It's a big step, because it gives people another option,' says Mohammed Taranissi, at the Assisted Reproduction and Gynaecology Centre, London, UK, one of the team. 'Before that the only option was to look in the siblings and immediate family to see if you had a match or alternatively to just keep trying [to have a baby which matches].'
* 17:36 05 May 2004 by Shaoni Bhattacharya
Five healthy babies have been born to provide stem cells for siblings with serious non-heritable conditions. This is the first time 'saviour siblings' have been created to treat children whose condition is not genetic, says the medical team.
The five babies were born after a technique called preimplantation genetic diagnosis (PGD) was used to test embryos for a tissue type match to the ailing siblings, reports the team, led by Anver Kuliev at the Reproductive Genetics Institute in Chicago, US.
The aim in these cases was to provide stem cells for transplantation to children who are suffering from leukaemia and a rare condition called Diamond-Blackfan anaemia (DBA).
'It's a big step, because it gives people another option,' says Mohammed Taranissi, at the Assisted Reproduction and Gynaecology Centre, London, UK, one of the team. 'Before that the only option was to look in the siblings and immediate family to see if you had a match or alternatively to just keep trying [to have a baby which matches].'
He told New Scientist that people trying to conceive a child naturally as a tissue match for a sick sibling had only a one in five chance. This method can also lead to terminations where the foetus is not a tissue match for the sibling.
"If you do it this way, the chance of finding a match is 98 per cent."
'Unlawful and unethical'
However, the use of this technology to provide a "designer baby" to treat an ill sibling is highly controversial.
A UK couple involved in this study travelled to the US for treatment after the UK's Human Fertilisation and Embryology Authority (HFEA) ruled that they could not create a tissue-matched sibling as a stem cell donor to their son.
In-vitro fertilisation (IVF) and tissue-typing was used in the US to give the Whitakers a perfectly matched baby boy to help their son Charlie, who suffers from DBA. The Whitakers were banned from the procedure in the UK because DBA could not be identified genetically in any embryos created. The HFEA deemed the procedure would be "unlawful and unethical" as although Charlie might benefit, the embryo would not and might even be at slight risk.
The technique has been allowed in the UK where the embryo itself has been at risk of a genetic disorder.
Some experts believe that the process of tissue-typing an embryo could itself carry risks. In the US study, a single cell was taken from each three-day old embryo, which consists of a ball of just eight cells. The DNA was then analysed to find the tissue-type.
Umbilical cord
Kuliev and colleagues report that they treated nine couples with children needing bone marrow transplants between 2002 and 2003. Using IVF, 199 embryos were created, of which nearly a quarter - 45 embryos - were selected as being HLA-matched. HLA or Human Leukocyte Antigen determines the compatibility between the tissues of a donor and a recipient.
A total of 28 embryos were transferred to the women in IVF cycles, resulting in five pregnancies and births.
"The advantages of doing it this way, is that it is not an invasive procedure for the child whose cells are used," says Taranissi. This is because stem cells from the child's umbilical cord are used. If an existing sibling were a tissue-match, they would have to have cells taken from their bone marrow.
Journal reference: Journal of the American Medical Association (vol 291, p 2079)
Five "designer babies" created for stem cells - 05 May 2004 - New Scientist
Five "designer babies" created for stem cells - 05 May 2004 - New Scientist: "Five 'designer babies' created for stem cells
* 17:36 05 May 2004 by Shaoni Bhattacharya
* 17:36 05 May 2004 by Shaoni Bhattacharya
LONDON, England (CNN) -- Bring your partner, grab a seat, pick up your baby catalog and start choosing.
Would you be comfortable selecting what cosmetic features you want your baby to have?
Will you go for the brown hair or blond? Would you prefer tall or short? Funny or clever? Girl or boy? And do you want them to be a muscle-bound sports hero? Or a slender and intelligent book worm?
When you're done selecting, head to the counter and it's time to start creating your new child.
Does this sound like a scary thought?
With rapid advances in scientific knowledge of the human genome and our increasing ability to modify and change genes, this scenario of "designing" your baby could well be possible in the near future.
Techniques of genetic screening are already being used -- whereby embryos can be selected by sex and checked for certain disease-bearing genes. This can lead to either the termination of a pregnancy, or if analyzed at a pre-implantation stage when using In Vitro Fertilization (IVF), can enable the pregnancy to be created using only non-disease bearing genes.
British scientists last week developed a "genetic MoT" test, which offers a universal method of screening embryos for diseases using a new technique of karyomapping, which is more efficient than previous processes.
The test would be taken on a two-day-old IVF embryo and is yet to be validated, but it could mark a significant change; allowing doctors to screen for gene combinations that create higher risks of diabetes, heart disease or cancer.
Experts estimate the test, if licensed by the Human Fertilization and Embryology Authority, could be available for around $3000.
In the future we may also be able to "cure" genetic diseases in embryos by replacing faulty sections of DNA with healthy DNA, in a process called germ line therapy. This has been performed on animal embryos but is currently illegal for humans.
Furthermore, the developing technologies of genetic alteration open up a whole new set of possibilities -- which could result in so-called "designer babies."
The technique -- known as inheritable genetic modification -- modifies genes in eggs, sperm or early embryos and results in the altered genes being passed on to future generations. Should parents be allowed to create their babies?
This could potentially irreversibly alter the human species. So, the obvious question arises: should we be doing this?
Some countries have made genetic screening or alteration illegal by law, and the ethical questions surrounding the uses of the technology are vast -- creating a palpable tension over the subject.
Don't Miss
In September, Internet giants Google and Microsoft withdrew adverts for sex selection products and other services considered illegal in India when they were threatened with legal action.
The Center for Genetics and Society is trying to encourage debate on the topic -- as soon as possible.
Executive director of the organization, Richard Hayes, told CNN that the general public of most countries was missing out on taking part in the debate.
"The debate has taken place amongst scientists and science journalists, but average people feel overwhelmed with the technical detail. They feel disempowered."
Hayes said his organization supported the use of embryo screening to help prevent the passing on of serious diseases and disorders like Cystic Fibrosis, but is wary of other technologies and how genetic screening and alteration can be misused.
"We support the use of that to allow couples at risk to have healthy children. But for non-medical, cosmetic purposes, we believe this would undermine humanity and create a techno-eugenic rat race," Hayes said.
He said there were immense amounts of resources being poured into developing gene altering techniques and no laws in many countries to stop them from starting clinics that could offer selected cosmetic traits.
"As technology advances it is possible that any number of human characteristics in part influenced by genes could come under human control. Right now there is an enormous amount of research being conducted to correlate specific genes with specific characteristics."
One of the organizations researching genetic alteration is the University of California Irvine's Sue and Bill Gross Stem Cell Research Center.
Professor of biological chemistry and developmental and cell biology, and co-director of the Center, Peter Donovan, feels the research could have massive benefits.
After his team discovered a greatly improved method for genetically manipulating human embryonic stem cells earlier this year, Donovan said:
"The ability to generate large quantities of cells with altered genes opens the door to new research into many devastating disorders.
"Not only will it allow us to study diseases more in-depth, it also could be a key step in the successful development of future stem cell therapies," Donovan
But according to Hayes the potential for misuse of this technology could have dire consequences for the human race.
"This runs many risks. It's used in many countries to avoid the birth of female children.
"The technologies are going to be accessible to affluent couples and would be used in ways that could increase inequality. The last thing we need now is a genetic elite.
"This designing aspect would also lead to an objectification of children as commodities."
Hayes said it was important that people began debating the issues now so the correct "rules, regulations and regulatory oversights" could be established before the technology was complete and accessible.
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