Latest news with #mitochondrialDNA
Irish Times
19-07-2025
- Health
- Irish Times
Ireland far behind other countries for IVF genetic testing, doctors and advocates say
Eight healthy babies were recently conceived via in vitro fertilisation (IVF) in the UK using DNA from three people to avoid inheriting serious genetic mutations, but it could be many years before these procedures are permitted under law in Ireland. The remarkable scientific development was years in the making. The procedure is carried out in cases where the mother is known to have a genetic mutation in her mitochondrial DNA – the power house of the cell that makes up human tissue. The mother's egg is artificially fertilised by the father's sperm, and the genetic material from this embryo is extracted and transferred to a donor's egg, one which doesn't have mitochondrial mutation. The vast majority of the DNA is that of the mother and father, with the donor only providing less than a tenth of a per cent to the embryo's genetic code. It nonetheless has the potential to provide hope for families around the world. Graphic: Newcastle University/Newcastle Hospitals NHS Foundation Trust/PA Wire Dr Jane Farrar, from Trinity College 's genetics department, explains that mutations in the mitochondria are rare, yet manifest themselves in serious health issues from birth. Babies born with these mutations often suffer brain, heart and muscle failure from a young age as well as developmental delays. Dr Farrar says there is a range of mitochondrial disease with a spectrum of symptoms, all of which are severe. Leber Hereditary Optic Neuropathy (LHON) can lead to quite sudden, sometimes total loss of vision in both eyes. Dr Farrar says this is an onset disease and often takes place in young adulthood. On the other hand, Leigh Syndrome is a disorder characterised by progressive and gradual loss of muscle use and brain function. This is evident from infancy and early childhood, she says. The eight healthy babies in the UK were born after about 20 years of genetic and medical research, and in 2015 a change in law allowed for this procedure to be carried out. In spite of the Church of England and other religious leaders questioning its ethics, the UK parliament passed it by a two-thirds majority. IVF clinics in Ireland are not permitted under law to carry out this procedure. The Department of Health calls it 'a relatively new and highly complex form of assisted human reproduction technology'. A department spokesperson said the Health (Assisted Human Reproduction) Act 2024 'establishes a regulatory framework for fertility clinics and assisted human reproduction (AHR) treatments, aiming to ensure consistency, oversight and ethical standards in practice and research'. The National Infertility Support and Information Group (NISIG) said 'while work is under way to establish a regulatory authority for Assisted Human Reproduction (AHR) treatment in Ireland as part of this legislation, research like this in the UK highlights just how far behind Ireland still is in comparison to other countries'. They said it is imperative the government's regulatory framework includes an authority that 'enables the use of pre-implantation genetic testing (PGT) of embryos; posthumous assisted human reproduction; and embryo and stem cell research'. Dr John Waterstone, a graduate of Trinity College's genetics department as well as its medical school, is the founder and director of Waterstone Clinic, one of Ireland's largest IVF providers. While he acknowledges the 'very experimental' nature of the procedure, he says 'it is pretty remarkable that they've managed to do it. It's an incredible achievement for them'. He says that for some 'it's ethically questionable' to facilitate genetic modification of embryos but adds that this is for 'couples who have found themselves in tragic situations. Really traumatic, horrendous experiences of parents' children dying in infancy after being born with rare genetic mutations'. Waterstone Clinic does provide pre-implantation genetic testing on embryos to discover if parents are unknowingly passing down genetic mutations that could cause serious health conditions in their children. However, Dr Waterstone says that the kind of procedure that took place in the UK is unlikely to come to Ireland anytime soon. 'I don't really think in the foreseeable future that anyone in Ireland who's diagnosed with mitochondrial disease will receive that treatment here. It's more viable to go to the UK,' he says. Given the rarity of these mutations, 'one in 5,000 individuals might have mitochondrial diseases', he says and the necessity for this treatment is not widespread.
Yahoo
18-07-2025
- Health
- Yahoo
Scientists use DNA from three people to protect babies from rare disease
LONDON - A pioneering IVF technique combining DNA from three people to protect a baby from a rare genetic disease has been used in Britain, leading to a healthy cohort of eight babies with no sign of serious disease, scientists said Wednesday. Four girls and four boys, including one set of twins, were born healthy after scientists used the treatment to prevent mothers with mutations in their mitochondrial DNA from transmitting the condition to their children, scientists at Newcastle University in northern England said in a statement Wednesday. Subscribe to The Post Most newsletter for the most important and interesting stories from The Washington Post. The authors say it represents the first study into an entire cohort of babies and paves the way for further research on their health outcomes, as well as improved medical techniques for that specific treatment - which is granted approval in the United Kingdom on a case-by-case basis. Mitochondria are commonly known as the 'powerhouse of the cell' and produce energy required for major parts of the body to function. However, small mutations in mitochondrial DNA can affect tissues with high-energy demands such as the heart, muscle and brain, causing devastating disease and, in some cases, death. Mitochondrial DNA is inherited from the mother, and although males can be affected, they do not transmit the disease, researchers said. About 1 in 5,000 babies are born worldwide each year with mutations that can cause the disease, researchers said. Now, scientists have detailed how an IVF technique called pronuclear transfer has been used to combine the DNA of three people to reduce the risk of mitochondrial disease being passed down the generations, in accompanying studies published in the New England Journal of Medicine on Wednesday. The technique uses 99.9 percent of the DNA from a man and woman, with another 0.1 percent from a second woman's donor egg. It works by transplanting the nuclear genome of an egg from the mother with the condition - which contains genes essential for individual characteristics like hair color and height - to an egg donated by an unaffected woman that has had its nuclear genome removed, researchers said. The resulting embryo inherits nuclear DNA from its two parents, but the mitochondrial DNA comes from the donated egg, researchers said. The treatment was offered to certain women at very high risk of passing on serious mitochondrial disease, in accordance with U.K. regulations that assess each application for the procedure on a case-by-case basis. The eight infants - who range in age from newborn to over 2 years old - were assessed to be healthy, meeting developmental milestones and reported levels of mitochondrial disease-causing mutations that were undetectable or at levels unlikely to cause disease, the Newcastle University statement said. Three of the babies had levels of disease-causing mitochondrial DNA mutations of up to 20 percent, which is still below the 80 percent threshold for clinical disease, it added. Doug Turnbull, a neurologist at Newcastle University who co-wrote the study, said it was the first to document a 'cohort' of children who had received the treatment. He said it is the result of an extremely cautious approach by scientists and regulators that has been more than two decades in the making. 'People have used very similar techniques, but nobody's quite used this particular technique,' he told The Washington Post in a phone interview Thursday. 'It's just absolutely critical when you're doing a new technique to be cautious and to make sure … it's as safe and efficient as possible.' The procedure has also raised concern from some, including religious groups, about its ethics and the fear that it could open the door to further genetic modification. Peter Thompson, chief executive of the Human Fertilization and Embryology Authority, which regulates the process in Britain, said that only people with a 'very high risk' of passing on a serious mitochondrial disease are eligible for the treatment and that every application is assessed individually. As of July 1, 35 patients have been granted approval by U.K. authorities to proceed with the treatment since it was first licensed in 2017. 'These robust but flexible regulatory processes allow the technique to be used safely for the purposes that Parliament agreed in 2015,' Thompson said in a statement in response to Wednesday's news. Scientists have cautiously welcomed the findings, while stressing the importance of long-term monitoring and raising the prospect of whether the procedure offers advantages over embryo screening for genetic disease. Others have raised the issue of cost in the long-term project that is supported by Britain's National Health Service and medical charity the Wellcome Trust, among other groups. Mary Herbert, who is professor of reproductive biology at Newcastle University and lead author of the research paper, said 'the findings give grounds for optimism' but further research is needed to 'bridge the gap' between reducing risk of mitochondrial disease and preventing it. Turnbull said the team is also looking to improve medical techniques and follow up with the children involved for as long as possible to track their health outcomes. He said researchers are offering health assessments for five years, but it 'would be lovely to be able to follow them up much longer.' Joanna Poulton, a professor in mitochondrial genetics at the University of Oxford, who was not involved in the research, said 'time will tell' whether the treatment results in 'dramatic clinical advance.' The births come amid a wider boom in genomic sequencing and IVF start-ups that have sparked a wider debate about the ethics and science behind embryo screening and genetic preselection. In the United States, those undertaking IVF typically test for rare genetic disorders stemming from a single gene mutation, such as cystic fibrosis, or chromosomal abnormalities such as Down syndrome. The use of donor mitochondria, however, is not permitted under U.S. regulations. In Britain, the creation of babies using DNA from three people was first made legal in 2015, hailed for its ability to prevent serious disease being passed on. Related Content Democrats try a new tone: Less scripted, more cursing, Trumpier insults An asylum seeker abandons her claim and leaves Trump's America He may have stopped Trump's would-be assassin. Now he's telling his story.
Telegraph
17-07-2025
- Health
- Telegraph
Babies could have four parents after DNA breakthrough - it's a scientific triumph for Britain
It is said it takes a village to raise a child, but under an astonishing new IVF technique, it may take four people to conceive one. This week, scientists announced that eight healthy babies had been born in Britain using the DNA of a 'second mother' to repair damage in their mitochondrial DNA – a tiny part of the genetic code which powers the cells. The procedure involves fertilising an egg and transplanting its nuclear DNA into a second fertilised donor egg that has healthy mitochondria. Nuclear DNA is the important part of a human that contains all the information which makes us who we are, so the technique is rather like changing a defective battery. In the majority of cases, the baby's father fertilises both eggs. But experts admitted this week that, on occasion, the egg donor is related to the father, so a sperm donor must be found to fertilise the donor egg to avoid incestuous complications. It means that two men and two women could now be involved in a child's conception.
Yahoo
17-07-2025
- Health
- Yahoo
Scientists use DNA from three people to protect babies from rare disease
LONDON - A pioneering IVF technique combining DNA from three people to protect a baby from a rare genetic disease has been used in Britain, leading to a healthy cohort of eight babies with no sign of serious disease, scientists said Wednesday. Four girls and four boys, including one set of twins, were born healthy after scientists used the treatment to prevent mothers with mutations in their mitochondrial DNA from transmitting the condition to their children, scientists at Newcastle University in northern England said in a statement Wednesday. Subscribe to The Post Most newsletter for the most important and interesting stories from The Washington Post. The authors say it represents the first study into an entire cohort of babies and paves the way for further research on their health outcomes, as well as improved medical techniques for that specific treatment - which is granted approval in the United Kingdom on a case-by-case basis. Mitochondria are commonly known as the 'powerhouse of the cell' and produce energy required for major parts of the body to function. However, small mutations in mitochondrial DNA can affect tissues with high-energy demands such as the heart, muscle and brain, causing devastating disease and, in some cases, death. Mitochondrial DNA is inherited from the mother, and although males can be affected, they do not transmit the disease, researchers said. About 1 in 5,000 babies are born worldwide each year with mutations that can cause the disease, researchers said. Now, scientists have detailed how an IVF technique called pronuclear transfer has been used to combine the DNA of three people to reduce the risk of mitochondrial disease being passed down the generations, in accompanying studies published in the New England Journal of Medicine on Wednesday. The technique uses 99.9 percent of the DNA from a man and woman, with another 0.1 percent from a second woman's donor egg. It works by transplanting the nuclear genome of an egg from the mother with the condition - which contains genes essential for individual characteristics like hair color and height - to an egg donated by an unaffected woman that has had its nuclear genome removed, researchers said. The resulting embryo inherits nuclear DNA from its two parents, but the mitochondrial DNA comes from the donated egg, researchers said. The treatment was offered to certain women at very high risk of passing on serious mitochondrial disease, in accordance with U.K. regulations that assess each application for the procedure on a case-by-case basis. The eight infants - who range in age from newborn to over 2 years old - were assessed to be healthy, meeting developmental milestones and reported levels of mitochondrial disease-causing mutations that were undetectable or at levels unlikely to cause disease, the Newcastle University statement said. Three of the babies had levels of disease-causing mitochondrial DNA mutations of up to 20 percent, which is still below the 80 percent threshold for clinical disease, it added. Doug Turnbull, a neurologist at Newcastle University who co-wrote the study, said it was the first to document a 'cohort' of children who had received the treatment. He said it is the result of an extremely cautious approach by scientists and regulators that has been more than two decades in the making. 'People have used very similar techniques, but nobody's quite used this particular technique,' he told The Washington Post in a phone interview Thursday. 'It's just absolutely critical when you're doing a new technique to be cautious and to make sure … it's as safe and efficient as possible.' The procedure has also raised concern from some, including religious groups, about its ethics and the fear that it could open the door to further genetic modification. Peter Thompson, chief executive of the Human Fertilization and Embryology Authority, which regulates the process in Britain, said that only people with a 'very high risk' of passing on a serious mitochondrial disease are eligible for the treatment and that every application is assessed individually. As of July 1, 35 patients have been granted approval by U.K. authorities to proceed with the treatment since it was first licensed in 2017. 'These robust but flexible regulatory processes allow the technique to be used safely for the purposes that Parliament agreed in 2015,' Thompson said in a statement in response to Wednesday's news. Scientists have cautiously welcomed the findings, while stressing the importance of long-term monitoring and raising the prospect of whether the procedure offers advantages over embryo screening for genetic disease. Others have raised the issue of cost in the long-term project that is supported by Britain's National Health Service and medical charity the Wellcome Trust, among other groups. Mary Herbert, who is professor of reproductive biology at Newcastle University and lead author of the research paper, said 'the findings give grounds for optimism' but further research is needed to 'bridge the gap' between reducing risk of mitochondrial disease and preventing it. Turnbull said the team is also looking to improve medical techniques and follow up with the children involved for as long as possible to track their health outcomes. He said researchers are offering health assessments for five years, but it 'would be lovely to be able to follow them up much longer.' Joanna Poulton, a professor in mitochondrial genetics at the University of Oxford, who was not involved in the research, said 'time will tell' whether the treatment results in 'dramatic clinical advance.' The births come amid a wider boom in genomic sequencing and IVF start-ups that have sparked a wider debate about the ethics and science behind embryo screening and genetic preselection. In the United States, those undertaking IVF typically test for rare genetic disorders stemming from a single gene mutation, such as cystic fibrosis, or chromosomal abnormalities such as Down syndrome. The use of donor mitochondria, however, is not permitted under U.S. regulations. In Britain, the creation of babies using DNA from three people was first made legal in 2015, hailed for its ability to prevent serious disease being passed on. Related Content An asylum seeker abandons her claim and leaves Trump's America He may have stopped Trump's would-be assassin. Now he's telling his story. He seeded clouds over Texas. Then came the conspiracy theories. Solve the daily Crossword
Yahoo
17-07-2025
- Health
- Yahoo
8 babies born with DNA from 3 people in world-first IVF trial
Eight healthy babies have been born in the U.K. using a new IVF technique that successfully reduced their risk of inheriting genetic diseases from their mothers, the people behind a world-first trial said Wednesday. The findings were hailed as a breakthrough, which raises hopes that women with mutations in their mitochondrial DNA could one day have children without passing debilitating or deadly diseases on to the children. One out of every 5,000 births is affected by mitochondrial diseases, which cannot be treated, and include symptoms such as impaired vision, diabetes and muscle wasting. In 2015, Britain became the first country to approve an in-vitro fertilization technique that uses a small amount of healthy mitochondrial DNA from the egg of a donor — along with the mother's egg and father's sperm. Some have called the result of this process "three-parent babies," though researchers have pushed back at this term because only roughly 0.1% of the newborn's DNA comes from the donor. The results of the much-awaited U.K. trial were published in several papers in the New England Journal of Medicine. 8 children with DNA from 3 people currently healthy Out of 22 women to undergo the treatment at the Newcastle Fertility Centre in northeast England, eight babies were born. The four boys and four girls now range from under 6 months to over 2 years old. The amount of mutated mitochondrial DNA — which causes disease — was reduced by 95-100% in six of the babies, according to the research. For the other two newborns, the amount fell by 77-88%, which is still below the range that causes disease. This indicates the technique was "effective in reducing transmission" of diseases between mother and child, one of the studies said. The eight children are currently healthy, though one had a disturbance of their heart's rhythm which was successfully treated, the researchers said. Their health will be followed up over the coming years to see if problems arise. Oxford University reproductive genetics expert Dagan Wells noted that among the eight children, three have shown some signs of what is known as "reversal," which is still little understood. It is "a phenomenon where the therapy initially succeeds in producing an embryo with very few defective mitochondria, but by the time the child is born the proportion of abnormal mitochondria in its cells has significantly increased," he explained. Nevertheless, Nils-Goran Larsson, a Swedish reproductive expert not involved in the research, hailed it as a "breakthrough." The new technique offers a "very important reproductive option" for families affected by "devastating" mitochondrial diseases, he added. While the U.K. trial is the first to involve multiple mothers, the eight babies born to them are not the first to be born with DNA from three people. That first came in 2016, after a woman was treated by U.S. fertility specialists in Mexico, where there were no laws regulating the practice. A similar IVF method was used in that groundbreaking case. Ethical concerns over embryos and "designer babies" Mitochondrial donation remains controversial and has not been approved in many countries, including the United States and France. Religious leaders have opposed the procedure because it involves the destruction of human embryos. Other opponents have expressed fears it could pave the way for genetically engineered "designer babies." An ethical review carried out by the U.K.'s independent Nuffield Council on Bioethics was "instrumental" in conducting the new research, the council's director Danielle Hamm said Wednesday. Peter Thompson, head of the U.K.'s Human Fertilisation and Embryology Authority, which approved the procedure, said only people with a "very high risk" of passing on a mitochondrial disease would be eligible for the treatment. Ethical concerns have also been raised over the use of mitochondrial donation for infertility in Greece and Ukraine. French mitochondrial disease specialist Julie Steffann told AFP that "it is a question of the risk-benefit ratio: for a mitochondrial disease, the benefit is obvious." "In the context of infertility, it has not been proven," she added. Son of man who was violently detained by ICE reacts after release Mike Johnson breaks from Trump, calls on DOJ to release Epstein files 7.3 magnitude earthquake hits southern Alaska Solve the daily Crossword
