Latest news with #geneticdisease
Daily Mail
7 days ago
- Health
- Daily Mail
My son got a cramp in his leg while playing laser tag at a birthday party... the cause has broken our hearts
A family's life 'completely changed' when they discovered their beloved seven-year-old son's cramps - a symptom of a rare genetic disease - had been misdiagnosed as autism for three and a half years. Little Evan, who lives in Maidstone, Kent, was only told he had the debilitating condition on February 8 this year after going to a laser tag birthday party with friends. Within 15 minutes his calf muscle went into a cramp rendering him unable to join in - but his mother Laura Winter said this time it was much worse than the leg cramps he had experienced up to then. Ms Winter took her son to the GP and he was referred for a blood test leading the family to receive a call saying Evan needed to be taken urgently to A&E. Following further tests a doctor told the family he believed Evan had a condition called Duchenne Muscular Dystrophy (DMD) - a severe inherited disease that typically begins at age four and progresses rapidly, causing muscle loss and resulting in difficulties standing up. The family is now raising money through a GoFundMe page to try to offer young Evan a 'normal' life. Speaking to MailOnline, Ms Winter said: 'Evan would sometimes say he hated walking and it was thought to be a result of his autism because he was on his tiptoes a lot. 'He holds himself really rigid and is quite tense which was seen as another symptom.' Ms Winter explained the severe cramp at a birthday party occurred just days before Evan's seventh birthday. Ms Winter was shocked to discover she had passed on the faulty DMD gene to her son as she was not aware of any family history involving the condition She said herself and her husband held hands 'very tightly' when receiving news of the diagnosis and it was a 'very quiet drive home'. Ms Winter added: 'Sometimes it feels like we're just living in a parallel universe and it will all just end soon. 'If our little boy had had a blood test following his first appointment with the community pediatrics team three and a half years ago we'd have known a lot earlier.' The doting mother described her son as 'hilarious' and 'such a funny little boy'. She added: 'He absolutely loves dinosaurs and the Jurassic world. He's so funny and sweet and loving - he's very well loved by everyone who meets him. Everyone he meets he just fills with dinosaur fact after dinosaur fact.' Ms Winter was shocked to discover she had passed on the faulty DMD gene to her son as she was not aware of any family history involving the condition. She said: 'Until recently, we were a "normal" family, living a simple but "normal" life with our two beautiful children, Amelie and Evan. We felt blessed beyond belief to have two happy and healthy children.' The family are now trying to raise money to help Evan with his condition saying they are 'embarrassed' at having to turn to their friends, family and the public for help. A GoFundMe page organised by Ms Winter reads: 'As Evan reaches his teenage years and early adulthood, he will become fully reliant on us for absolutely everything as the degeneration in his muscle accelerates. 'The caveat, we can't afford a home that can be made suitable, despite being a two working parent household, with local prices of properties that could be adapted marketing for between £500-600,000. 'We can't increase our working hours and miss precious time with our boy. We can't move to a cheaper area as we have our support networks, friends, children's school and medical teams locally. We are essentially stuck in a system that is broken and cannot offer any assistance. 'We can't save our beautiful little boy from this awful, horrendous disease but we will try with everything we have to give him a safe and comfortable home, where he can have the best childhood we can give him.' Ms Winter told MailOnline Evan's symptoms had 'never been signifcant enough to put into Google' and she believed there should be more awareness around DMD. 'If parents feel like there's something not quite right - trust your gut, push harder,' she concluded.
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.
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
Washington Post
17-07-2025
- Health
- Washington Post
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.
France 24
16-07-2025
- Health
- France 24
World-first IVF trial reduces risk of babies inheriting diseases
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 fertilisation (IVF) 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 percent of the newborn's DNA comes from the donor. The results of the much-awaited UK trial were published in several papers in the New England Journal of Medicine. 'Important reproductive option' 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 six months to over two years old. The amount of mutated mitochondrial DNA -- which causes disease -- was reduced by 95-100 percent in six of the babies, according to the research. For the other two newborns, the amount fell by 77-88 percent, which is 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. Nils-Goran Larsson, a Swedish reproductive expert not involved in the research, hailed the "breakthrough". The new technique offers a "very important reproductive option" for families affected by "devastating" mitochondrial diseases, he added. Ethical review 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 UK'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 UK'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 Stefann 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. Oxford University reproductive genetics expert Dagan Wells observed that "some scientists will be a little disappointed that so much time and effort has, so far, only led to the birth of eight children". Among the children being closely monitored are three that showed 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.
