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Designer Genes: Are '3-Parent Babies' The Answer To Hereditary Diseases?

Designer Genes: Are '3-Parent Babies' The Answer To Hereditary Diseases?

News186 days ago
Eight children in the UK have been spared from devastating genetic diseases thanks to a new three-person in vitro fertilisation (IVF) technique
In a groundbreaking medical advancement that brings hope to families affected by severe hereditary diseases, the United Kingdom has witnessed the birth of eight children through a revolutionary method called Mitochondrial Donation Treatment (MDT). Often referred to as 'three-parent DNA", this technique offers a powerful solution to prevent the transmission of debilitating mitochondrial diseases from mother to child.
Mitochondrial diseases are chronic, genetic disorders that occur when mitochondria, the cell's 'powerhouses", fail to produce sufficient energy for the body to function properly. These diseases can lead to a range of debilitating and often fatal symptoms, affecting the brain, heart, muscles, lungs, and kidneys. Since mitochondria contain their own small amount of DNA (mtDNA), inherited exclusively from the mother, women with faulty mitochondrial genes face the distressing possibility of passing these severe conditions to all their children.
Maternal Spindle Transfer (MST): This method involves removing the nucleus (which contains the majority of the parents' DNA) from the mother's egg. A donor egg is then taken, and its nucleus is removed, leaving behind healthy cytoplasm containing the donor's mitochondria. The mother's nucleus is inserted into the enucleated donor egg. This reconstructed egg, now containing the mother's nuclear DNA and the donor's healthy mitochondrial DNA, is fertilised with the father's sperm.
Pronuclear Transfer (PNT): Conducted after fertilisation, this technique involves fertilising both the mother's egg and a donor egg with the father's sperm, creating two embryos. The pronuclei (which contain the nuclear DNA from both parents) are removed from the fertilised mother's egg (which has faulty mitochondria). These pronuclei are then transferred into the fertilised donor egg, from which its pronuclei have been removed. The resulting embryo, containing the parents' nuclear DNA and the donor's healthy mitochondrial DNA, is implanted into the mother's womb.
In both techniques, the resulting embryo inherits approximately 99.8% of its DNA from the biological mother and father and a small fraction (about 0.2%) from the mitochondrial donor. This is why it is called 'three-parent DNA"—the genetic material comes from three individuals, yet the majority of traits, appearance, and characteristics are determined by the primary parents' nuclear DNA. The mitochondrial DNA only carries instructions for the mitochondria, not for other bodily features.
The UK became the first country to legalise MDT in 2015, following extensive ethical and scientific reviews. The procedure is regulated by the Human Fertilisation and Embryology Authority (HFEA), which provides strict guidelines and oversight. The first baby born using MDT in the UK was confirmed in 2016, and the recent announcement of eight children born using this method highlights the cautious and controlled application of this advanced reproductive technology.
MDT offers immense hope to families facing the devastating prospect of passing on incurable diseases, such as certain forms of cancer, severe neurological disorders, heart conditions, and muscle weaknesses. It represents a significant advance in reproductive medicine, offering the chance for healthy children where previously there was none. Although still a rare procedure due to its complexity and ethical considerations, its success in the UK marks a pivotal moment in the fight against inherited genetic diseases.
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Babies with three people's DNA hailed as breakthrough; but questions remain
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Babies with three people's DNA hailed as breakthrough; but questions remain

The Human Fertilisation and Embryology (Mitochondrial Donation) Regulations 2015 raised concerns about effectiveness and potential side-effects. The announcement that this technology has led to the birth of eight apparently healthy children therefore marks a major scientific achievement for the UK, which has been widely praised by numerous scientists and patient support groups. However, these results should not detract from some important questions they also raise. Tenyears after the UK became the first country to legalise mitochondrial donation, the first results from the use of these high-profile reproductive technologies – designed to prevent passing on genetic disorders – have finally been published. So far, eight children have been born, all reportedly healthy, thanks to the long-term efforts of scientists and doctors in Newcastle, England. Should this be a cause for excitement, disappointment or concern? Perhaps, I would suggest, it could be a bit of all three. The New England Journal of Medicine has published two papers on a groundbreaking fertility treatment that could prevent devastating inherited diseases. The technique, called mitochondrial donation, was used to help 22 women who carry faulty genes that would otherwise pass serious genetic disorders – such as Leigh syndrome – to their children. These disorders affect the body's ability to produce energy at the cellular level and can cause severe disability or death in babies. The technique, developed by the Newcastle team, involves creating an embryo using DNA from three people: nuclear DNA from the intended mother and father, and healthy mitochondrial DNA from a donor egg. During the parliamentary debates leading up to The Human Fertilisation and Embryology (Mitochondrial Donation) Regulations in 2015, there were concerns about the effectiveness of the procedure and its potential side-effects. The announcement that this technology has led to the birth of eight apparently healthy children therefore marks a major scientific achievement for the UK, which has been widely praised by numerous scientists and patient support groups. However, these results should not detract from some important questions they also raise. First, why has it taken so long for any updates on the application of this technology, including its outcomes and its limitations, to be made public? Especially given the significant public financial investment made into its development. In a country positioning itself as a leader in the governance and practice of reproductive and genomic medicine, transparency should be a central principle. Transparency not only supports the progress of other research teams but also keeps the public and patients well informed. Second, what is the significance of these results? While eight babies were born using this technology, this figure contrasts starkly with the predicted number of 150 babies per year likely to be born using the technique. The Human Fertilisation and Embryology Authority, the UK regulator in this area, has approved 32 applications since 2017 when the Newcastle team obtained its licence, but the technique was used with only 22 of them, resulting in eight babies. Does this constitute sufficiently robust data to prove the effectiveness of the technology and was it worth the considerable efforts and investments over almost two decades of campaigning, debate and research? As I wrote when this law was passed, officials should have been more realistic about how many people this treatment could help. By overestimating the number of patients who might benefit, they risked giving false hope to families who wouldn't be eligible for the procedure. The safety question: Is it safe enough? In two of the eight cases, the babies showed higher levels of maternal mitochondrial DNA, meaning the risk of developing a mitochondrial disorder cannot be ruled out. This potential for a 'reversal' – where the faulty mitochondria reassert themselves – was also highlighted in a recent study conducted in Greece involving patients who used the technique to treat infertility problems. As a result, the technology is no longer framed by the Newcastle team to prevent the transmission of mitochondrial disorders, but rather to reduce the risk. But is the risk reduction enough to justify offering the technique to more patients? And what will the risk of reassertion mean for the children born through it and their parents, who may live with the continuing uncertainty that the condition could emerge later in life? As some experts have suggested, it may be worth testing this technology on women who have fertility problems but don't carry mitochondrial diseases. This would help doctors better understand the risks of the faulty mitochondria coming back, before using the technique only on women who could pass these serious genetic conditions to their children. This leads to a fourth question. What has been the patient experience with this technology? It would be valuable to know how many people applied for mitochondrial donation, why some were not approved, and, among those 32 approved cases, why only 22 proceeded with treatment. It also raises important questions about how patients who were either unable to access the technology, or for whom it was ultimately unsuccessful feel, particularly after investing significant time, effort and hope in the process. How do they come to terms with not having the healthy biological child they had been offered? This is not to say we shouldn't celebrate these births and what they represent for the UK in terms of scientific achievement. The birth of eight healthy children represents a genuine scientific breakthrough that families affected by mitochondrial diseases have waited decades to see. However, some important questions remain unanswered, and more evidence is needed, and it should be communicated in a timely manner to make conclusions about the long-term use of the technology. Breakthroughs come with responsibilities. If the UK wants to maintain its position as a leader in reproductive medicine, it must be more transparent about both the successes and limitations of this technology. The families still waiting to have the procedure – and those who may never receive it – deserve nothing less than complete honesty about what this treatment can and cannot deliver. (The writer is associated with De Montfort University)

Babies Born With 3 People DNA Hailed As Breakthrough, But Doubts Remain
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Leicester: Ten years after the UK became the first country to legalise mitochondrial donation, the first results from the use of these high-profile reproductive technologies - designed to prevent passing on genetic disorders - have finally been published. So far, eight children have been born, all reportedly healthy, thanks to the long-term efforts of scientists and doctors in Newcastle, England. Should this be a cause for excitement, disappointment or concern? Perhaps, I would suggest, it could be a bit of all three. The New England Journal of Medicine has published two papers on a groundbreaking fertility treatment that could prevent devastating inherited diseases. The technique, called mitochondrial donation, was used to help 22 women who carry faulty genes that would otherwise pass serious genetic disorders - such as Leigh syndrome - to their children. These disorders affect the body's ability to produce energy at the cellular level and can cause severe disability or death in babies. The technique, developed by the Newcastle team, involves creating an embryo using DNA from three people: nuclear DNA from the intended mother and father, and healthy mitochondrial DNA from a donor egg. During the parliamentary debates leading up to The Human Fertilisation and Embryology (Mitochondrial Donation) Regulations in 2015, there were concerns about the effectiveness of the procedure and its potential side-effects. The announcement that this technology has led to the birth of eight apparently healthy children therefore marks a major scientific achievement for the UK, which has been widely praised by numerous scientists and patient support groups. However, these results should not detract from some important questions they also raise. First, why has it taken so long for any updates on the application of this technology, including its outcomes and its limitations, to be made public? Especially given the significant public financial investment made into its development. In a country positioning itself as a leader in the governance and practice of reproductive and genomic medicine, transparency should be a central principle. Transparency not only supports the progress of other research teams but also keeps the public and patients well informed. Second, what is the significance of these results? While eight babies were born using this technology, this figure contrasts starkly with the predicted number of 150 babies per year likely to be born using the technique. The Human Fertilisation and Embryology Authority, the UK regulator in this area, has approved 32 applications since 2017 when the Newcastle team obtained its licence, but the technique was used with only 22 of them, resulting in eight babies. Does this constitute sufficiently robust data to prove the effectiveness of the technology and was it worth the considerable efforts and investments over almost two decades of campaigning, debate and research? As I wrote when this law was passed, officials should have been more realistic about how many people this treatment could actually help. By overestimating the number of patients who might benefit, they risked giving false hope to families who wouldn't be eligible for the procedure. The safety question Third, is it safe enough? In two of the eight cases, the babies showed higher levels of maternal mitochondrial DNA, meaning the risk of developing a mitochondrial disorder cannot be ruled out. This potential for a "reversal" - where the faulty mitochondria reassert themselves - was also highlighted in a recent study conducted in Greece involving patients who used the technique to treat infertility problems. As a result, the technology is no longer framed by the Newcastle team as a way to prevent the transmission of mitochondrial disorders, but rather to reduce the risk. But is the risk reduction enough to justify offering the technique to more patients? And what will the risk of reassertion mean for the children born through it and their parents, who may live with the continuing uncertainty that the condition could emerge later in life? As some experts have suggested, it may be worth testing this technology on women who have fertility problems but don't carry mitochondrial diseases. This would help doctors better understand the risks of the faulty mitochondria coming back, before using the technique only on women who could pass these serious genetic conditions to their children. This leads to a fourth question. What has been the patient experience with this technology? It would be valuable to know how many people applied for mitochondrial donation, why some were not approved, and, among those 32 approved cases, why only 22 proceeded with treatment. It also raises important questions about how patients who were either unable to access the technology, or for whom it was ultimately unsuccessful feel, particularly after investing significant time, effort and hope in the process. How do they come to terms with not having the healthy biological child they had been offered? This is not to say we shouldn't celebrate these births and what they represent for the UK in terms of scientific achievement. The birth of eight healthy children represents a genuine scientific breakthrough that families affected by mitochondrial diseases have waited decades to see. However, some important questions remain unanswered, and more evidence is needed and it should be communicated in a timely manner to make conclusions about the long-term use of the technology. Breakthroughs come with responsibilities. If the UK wants to maintain its position as a leader in reproductive medicine, it must be more transparent about both the successes and limitations of this technology. The families still waiting to have the procedure - and those who may never receive it - deserve nothing less than complete honesty about what this treatment can and cannot deliver. (Disclaimer Statement: Cathy Herbrand receives funding from the Economic and Social Research Council.)

Designer Genes: Are '3-Parent Babies' The Answer To Hereditary Diseases?
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Eight children in the UK have been spared from devastating genetic diseases thanks to a new three-person in vitro fertilisation (IVF) technique In a groundbreaking medical advancement that brings hope to families affected by severe hereditary diseases, the United Kingdom has witnessed the birth of eight children through a revolutionary method called Mitochondrial Donation Treatment (MDT). Often referred to as 'three-parent DNA", this technique offers a powerful solution to prevent the transmission of debilitating mitochondrial diseases from mother to child. Mitochondrial diseases are chronic, genetic disorders that occur when mitochondria, the cell's 'powerhouses", fail to produce sufficient energy for the body to function properly. These diseases can lead to a range of debilitating and often fatal symptoms, affecting the brain, heart, muscles, lungs, and kidneys. Since mitochondria contain their own small amount of DNA (mtDNA), inherited exclusively from the mother, women with faulty mitochondrial genes face the distressing possibility of passing these severe conditions to all their children. Maternal Spindle Transfer (MST): This method involves removing the nucleus (which contains the majority of the parents' DNA) from the mother's egg. A donor egg is then taken, and its nucleus is removed, leaving behind healthy cytoplasm containing the donor's mitochondria. The mother's nucleus is inserted into the enucleated donor egg. This reconstructed egg, now containing the mother's nuclear DNA and the donor's healthy mitochondrial DNA, is fertilised with the father's sperm. Pronuclear Transfer (PNT): Conducted after fertilisation, this technique involves fertilising both the mother's egg and a donor egg with the father's sperm, creating two embryos. The pronuclei (which contain the nuclear DNA from both parents) are removed from the fertilised mother's egg (which has faulty mitochondria). These pronuclei are then transferred into the fertilised donor egg, from which its pronuclei have been removed. The resulting embryo, containing the parents' nuclear DNA and the donor's healthy mitochondrial DNA, is implanted into the mother's womb. In both techniques, the resulting embryo inherits approximately 99.8% of its DNA from the biological mother and father and a small fraction (about 0.2%) from the mitochondrial donor. This is why it is called 'three-parent DNA"—the genetic material comes from three individuals, yet the majority of traits, appearance, and characteristics are determined by the primary parents' nuclear DNA. The mitochondrial DNA only carries instructions for the mitochondria, not for other bodily features. The UK became the first country to legalise MDT in 2015, following extensive ethical and scientific reviews. The procedure is regulated by the Human Fertilisation and Embryology Authority (HFEA), which provides strict guidelines and oversight. The first baby born using MDT in the UK was confirmed in 2016, and the recent announcement of eight children born using this method highlights the cautious and controlled application of this advanced reproductive technology. MDT offers immense hope to families facing the devastating prospect of passing on incurable diseases, such as certain forms of cancer, severe neurological disorders, heart conditions, and muscle weaknesses. It represents a significant advance in reproductive medicine, offering the chance for healthy children where previously there was none. Although still a rare procedure due to its complexity and ethical considerations, its success in the UK marks a pivotal moment in the fight against inherited genetic diseases. Disclaimer: Comments reflect users' views, not News18's. Please keep discussions respectful and constructive. Abusive, defamatory, or illegal comments will be removed. News18 may disable any comment at its discretion. By posting, you agree to our Terms of Use and Privacy Policy.

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