Latest news with #geneticmutations
Irish Times
3 days ago
- 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.
Sky News
3 days ago
- Health
- Sky News
Babies born with DNA from three people in the UK - to prevent 'devastating' illness with no cure
Eight babies have been born in the UK with DNA from three people following a procedure to eliminate an incurable inherited disease. It is a major advance for the technique, called mitochondrial donation therapy, designed to prevent a life-limiting, often fatal illness caused by genetic mutations in the structures that generate energy in all our cells. It is also a test of the UK's permissive but highly regulated stance on human embryo research that allowed a technique once criticised for creating "three-parent babies" to proceed. The babies, four girls and four boys - two of them identical twins - were all born in the last five years and are healthy, according to research published in the New England Journal of Medicine. "It's a great success for these families," said Sir Doug Turnbull, emeritus professor at the University of Newcastle, who helped pioneer the treatment. "This is a devastating disease with no cure and without this technique, they would not feel that their families were free of mitochondrial disease. This gives them that opportunity." Mitochondrial disease affects around one in 5,000 babies born in the UK. Depending on the number and type of mutations in their mitochondria, the severity and type of disease can vary, but includes neurological, metabolic and developmental disorders. Only women at high risk of passing on severe disease qualify for the procedure, provided though a specialist facility at Newcastle upon Tyne Hospitals NHS Foundation Trust. The identities of the seven families and their babies are being withheld, but a mother of one of the baby boys speaking anonymously said: "The emotional burden of mitochondrial disease has been lifted, and in its place is hope, joy, and deep gratitude." How does the technique work? The procedure involves removing the genetic information from an affected mother's fertilised embryo before inserting it into one from a healthy female donor, from which the genetic information has been removed. Crucially, the hundreds of thousands of diseased mitochondria are left behind, leaving the new embryo with healthy ones present in the donor embryo. Mitochondria contain a tiny amount of their own unique genetic code, so the resulting babies carry DNA from three different people. But because it represents just 0.02% of our total DNA and has no bearing on genetic traits we inherit from our parents, researchers behind the technique, have never liked the "three-parent" moniker. However, the technique - whatever you choose to call it - isn't perfect. A total of 22 women underwent the procedure but only seven became pregnant, resulting in eight births - a 36% success rate. Five of the eight babies were born with no trace of disease. But tests on the other three revealed a small percentage of mutated mitochondria had been carried over during the procedure. While they are at levels too low to cause mitochondrial disease, the babies will require careful follow-ups to ensure they continue to develop normally. "We have designed a study specifically for that purpose," said Professor Bobby McFarland, who leads the service in Newcastle. "That's what is unique about us offering this in Newcastle because there isn't anywhere else in the world that's doing this in a regulated way." While there's good reason to expect the children will develop normally, the procedure does take medicine into new territory. Because mitochondria contain their own genetic code, girls born via the technique - carrying those from the healthy donor - will pass that on to any children they may have in future. Changing the "germ-line" in such a way has raised ethical concerns. But for seven new families, and more to follow, the procedure promises to cure a disease that has affected their families for generations.
Yahoo
5 days ago
- Health
- Yahoo
Babies born in UK with DNA from three people to treat inherited disease takes medicine into uncharted territory
Eight babies have been born in the UK with DNA from three people following a procedure to eliminate an incurable inherited disease. It is a major advance for the technique, called mitochondrial donation therapy, designed to prevent a life-limiting, often fatal, illness caused by genetic mutations in the structures that generate energy in all our cells. It is also a test of the UK's permissive, but highly regulated, stance on human embryo research that allowed a technique once criticised for creating "three-parent babies" to proceed. The babies, four girls and four boys - two of them identical twins - were all born in the last five years and are healthy, according to research published in the New England Journal of Medicine. "It's a great success for these families," said Sir Doug Turnbull, emeritus professor at the University of Newcastle who helped pioneer the treatment. "This is a devastating disease with no cure and without this technique, they would not feel that their families were free of mitochondrial disease. This gives them that opportunity." Mitochondrial disease affects around one in 5,000 babies born in the UK. Depending on the number and type of mutations in their mitochondria, the severity and type of disease can vary, but includes neurological, metabolic and developmental disorders. Only women at high risk of passing on severe disease qualify for the procedure, provided though a specialist facility at Newcastle upon Tyne Hospitals NHS Foundation Trust. The identities of the seven families and their babies are being withheld, but a mother of one of the baby boys speaking anonymously said: "The emotional burden of mitochondrial disease has been lifted, and in its place is hope, joy, and deep gratitude." How does the technique work? The procedure involves removing the genetic information from an affected mother's fertilised embryo before inserting it into one from a healthy female donor, from which the genetic information has been removed. Crucially, the hundreds of thousands of diseased mitochondria are left behind, leaving the new embryo with healthy ones present in the donor embryo. Mitochondria contain a tiny amount of their own unique genetic code, so the resulting babies carry DNA from three different people. But because it represents just 0.02% of our total DNA and has no bearing on genetic traits we inherit from our parents, researchers behind the technique, have never liked the "three-parent" moniker. However, the technique - whatever you choose to call it - isn't perfect. A total of 22 women underwent the procedure but only seven became pregnant, resulting in eight births - a 36% success rate. Five of the eight babies were born with no trace of disease. But tests on the other three revealed a small percentage of mutated mitochondria had been carried over during the procedure. Read more from Sky News: While they are at levels too low to cause mitochondrial disease, the babies will require careful follow-ups to ensure they continue to develop normally. "We have designed a study specifically for that purpose," said Professor Bobby McFarland, who leads the service in Newcastle. "That's what is unique about us offering this in Newcastle because there isn't anywhere else in the world that's doing this in a regulated way." While there's good reason to expect the children will develop normally, the procedure does take medicine into new territory. Because mitochondria contain their own genetic code, girls born via the technique will pass that on to any children they may have in future. Changing the "germ-line" in such a way has raised ethical concerns. But for seven new families, and more to follow, the procedure promises to cure a disease that has affected their families for generations.
Sky News
5 days ago
- Health
- Sky News
Babies born in UK with DNA from three people to treat inherited disease takes medicine into uncharted territory
Eight babies have been born in the UK with DNA from three people following a procedure to eliminate an incurable inherited disease. It is a major advance for the technique, called mitochondrial donation therapy, designed to prevent a life-limiting, often fatal, illness caused by genetic mutations in the structures that generate energy in all our cells. It is also a test of the UK's permissive, but highly regulated, stance on human embryo research that allowed a technique once criticised for creating "three-parent babies" to proceed. The babies, four girls and four boys - two of them identical twins - were all born in the last five years and are healthy, according to research published in the New England Journal of Medicine. "It's a great success for these families," said Sir Doug Turnbull, emeritus professor at the University of Newcastle who helped pioneer the treatment. "This is a devastating disease with no cure and without this technique, they would not feel that their families were free of mitochondrial disease. This gives them that opportunity." Mitochondrial disease affects around one in 5,000 babies born in the UK. Depending on the number and type of mutations in their mitochondria, the severity and type of disease can vary, but includes neurological, metabolic and developmental disorders. Only women at high risk of passing on severe disease qualify for the procedure, provided though a specialist facility at Newcastle upon Tyne Hospitals NHS Foundation Trust. The identities of the seven families and their babies are being withheld, but a mother of one of the baby boys speaking anonymously said: "The emotional burden of mitochondrial disease has been lifted, and in its place is hope, joy, and deep gratitude." How does the technique work? The procedure involves removing the genetic information from an affected mother's fertilised embryo before inserting it into one from a healthy female donor, from which the genetic information has been removed. Crucially, the hundreds of thousands of diseased mitochondria are left behind, leaving the new embryo with healthy ones present in the donor embryo. Mitochondria contain a tiny amount of their own unique genetic code, so the resulting babies carry DNA from three different people. But because it represents just 0.02% of our total DNA and has no bearing on genetic traits we inherit from our parents, researchers behind the technique, have never liked the "three-parent" moniker. However, the technique - whatever you choose to call it - isn't perfect. A total of 22 women underwent the procedure but only seven became pregnant, resulting in eight births - a 36% success rate. Five of the eight babies were born with no trace of disease. But tests on the other three revealed a small percentage of mutated mitochondria had been carried over during the procedure. While they are at levels too low to cause mitochondrial disease, the babies will require careful follow-ups to ensure they continue to develop normally. "We have designed a study specifically for that purpose," said Professor Bobby McFarland, who leads the service in Newcastle. "That's what is unique about us offering this in Newcastle because there isn't anywhere else in the world that's doing this in a regulated way." While there's good reason to expect the children will develop normally, the procedure does take medicine into new territory. Because mitochondria contain their own genetic code, girls born via the technique will pass that on to any children they may have in future. Changing the "germ-line" in such a way has raised ethical concerns.
Daily Mail
16-06-2025
- Health
- Daily Mail
Experts FINALLY pinpoint cause of autism - landmark discovery paves the way for drug treatments
A landmark discovery by scientists has uncovered a common genetic fault linked to autism—raising hopes for a new generation of targeted treatments. While it has long been understood that autism often runs in families, exactly how inherited changes in DNA lead to the condition has remained unclear. Now, researchers at Kobe University in Japan have found that many of the mutations associated with autism appear to disrupt the brain's natural 'maintenance' system—the internal process that clears out waste and damaged material, allowing brain cells to function as they should. When this clean-up system fails, as the study suggests it does in many cases of autism, waste begins to build up inside nerve cells, damaging their ability to send and receive signals. This breakdown may help explain some of the core features of autism, including difficulties with learning, language and social interaction. The research, published in Cell Genomics, focused on identifying what different high-risk genetic variants actually do inside the brain. Scientists have known for years that certain genetic mutations are more common in people with autism—but until now, there was no standardised way to study the effects of those mutations in the lab. To solve this, the Kobe team created a library of 63 specially engineered cell lines—groups of cells grown in the lab that are genetically identical, allowing researchers to conduct consistent experiments. Each line carried one of the genetic mutations most strongly associated with autism spectrum conditions (ASC). These cells were created using mouse embryonic stem cells—taken from early-stage mouse embryos—which have the unique ability to develop into any kind of tissue in the body, including brain cells. No human embryos were used. To introduce the mutations, the scientists used CRISPR, a gene-editing technology that allows precise changes to DNA. It enabled the team to effectively model autism in the lab—creating what some researchers describe as 'autism in a dish.' From these modified cells, the team was able to grow various types of brain tissue—and even generate adult mice with the same mutations—giving them a powerful way to study how genetic changes affect both brain structure and behaviour over time. What they found was striking. Across many of the mutations, a common problem emerged: the brain's waste-disposal system wasn't working properly. Brain cells—particularly neurons, which carry electrical signals and control thought, emotion, and behaviour—were struggling to get rid of faulty internal components. As the study puts it, 'a lack of quality control of these proteins may be a causal factor of neuronal defects.' The authors note this is 'particularly interesting since the local production of proteins is a unique feature in neurons.' In simple terms, neurons are constantly producing new components to help them send messages. But if they can't clear out old or broken parts, the system becomes clogged and starts to malfunction—potentially disrupting the brain networks that support communication, learning and social development. The implications may go beyond autism. Many of the same genetic mutations are also found in people with other mental health conditions, such as schizophrenia and bipolar disorder. As the authors note: 'Interestingly, the genetic variants we studied are also implicated in other neuropsychiatric disorders such as schizophrenia and bipolar disorder. 'So, this library may be useful for studying other conditions as well.' The researchers hope that by better understanding what these mutations do, scientists will be able to identify new drug targets—and eventually, develop treatments tailored to a person's unique genetic profile. While any clinical application is still likely years away, the discovery marks a turning point in autism research—moving beyond simply spotting risk genes to uncovering the biological chain of events that may cause the condition in the first place. It follows soaring rates of autism—with a 787 per cent rise in the number of diagnoses in the UK between 1998 and 2019 reported in a 2021 study. Last month NHS data showed that more than 200,000 people—triple that in 2021—are waiting for an autism assessment in England. Famous figures with ASC include environmental activist Greta Thunberg, 22, and billionaire entrepreneur Elon Musk, 53, founder of Tesla and owner of X (formerly Twitter). As the condition affects people in many different ways, some autistic individuals do not view it as an illness requiring a 'cure'. Instead, they see it as a difference—one that should be understood and accommodated, rather than treated or fixed. The Kobe University research is not the first to examine genetic links to the condition to provide an answers. Earlier this year, experts found some cases of autism may be caused by the genetic condition myotonic dystrophy type 1 (DM1). Those with the little-known genetic condition were found to be 14 times more likely to develop autism. Other studies have suggested environmental factors could be a potential cause of autism. Last year, research found a common plastic additive found in everything from pacifiers to metal foods had been linked to an increased risk of autism in boys. It found that higher levels of chemical bisphenol A (BPA) in a pregnant mother's urine more than tripled the chances a young boy developing autism symptoms by the age of two. Those same boys were six times more likely to be diagnosed with autism by age 11 — compared to those whose mothers had lower BPA levels during pregnancy. The chemical BPA is intended to harden plastics and prevent metals from rusting, among other uses. It has also been dubbed a 'gender-bending' chemical due to its apparent role spurring hormonal and sexual disruptions in humans, fish and other species.
