Published13 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy James GallagherHealth and science correspondentScientists have created the first synthetic human embryos – using no eggs or sperm – provoking deep ethical questions, according to reports.The synthetic embryos – only days or weeks old – could help researchers study the earliest stages of human development and explain pregnancy loss. Nobody is currently suggesting growing them into a baby. But the rapid progress has outpaced discussions on how they should be dealt with ethically and legally. Prof James Briscoe, from the Francis Crick Institute, said the field needed to “proceed cautiously, carefully and transparently” to avoid a “chilling effect” on the public.The development of human synthetic embryos was announced at the annual meeting of the International Society for Stem Cell Research. Synthetic embryos are also known as “embryo models”, as they resemble embryos, for the purposes of research, rather than being identical to them. Image source, University of CambridgeThe work comes from the laboratories of Prof Magdalena Zernicka-Goetz, from the University of Cambridge and the California Institute of Technology.The full details have yet to be published and made available for scientific scrutiny, leading many researchers to feel unable to comment on the significance of the reports.But the principle is the synthetic embryos are made from a stem cell rather than a fusion of egg and sperm.Beating heartStem cells have the capacity to become any cell-type in the body and if coaxed in just the right way can be persuaded to form embryos. This is the first time that has been achieved using human material. Although, they are not truly “synthetic”, as the starting material was cells cultured from a traditional embryo in the laboratory. “It’s beautiful and created entirely from embryonic stem cells,” Prof Zernicka-Goetz told the Guardian newspaper.She has already developed synthetic mouse embryos with evidence of a developing brain and beating heart. Meanwhile, scientists in China have implanted synthetic monkey embryos into female monkeys – although, all the pregnancies failed. Image source, Amadei and HandfordThe synthetic embryos do not behave in exactly the same way as normal embryos. And it is unclear how their use in research should be governed.Prof Briscoe said: “On the one hand, models of human embryos made of stem cells might offer an ethical and more readily available alternative to the use of IVF-derived [in-vitro fertilisation] human embryos. “On the other hand, the closer stem-cell-derived models of human embryos mirror human embryos, the more important it is to have clear regulations and guidelines for how they are used.” Most countries use the 14-day rule in human-embryo research. This allows an embryo created by fertilising a human egg to be grown for 14 days.However, these “embryo models” are not legally “embryos” and are not governed by the same laws. Dr Ildem Akerman, from the University of Birmingham, said: “These findings suggest that we would soon develop the technology to grow these cells beyond the 14-day limit, with potentially more insights to gain into human development. “Nevertheless, the ability to do something does not justify doing it.” ‘Understand infertility’Legal and ethical experts in the UK are drawing up a voluntary set of guidelines for how to proceed. Researchers hope these synthetic embryos will further understanding of the earliest stages of human’s lives.Prof Roger Sturmey, from the University of Manchester, said: “We know remarkably little about this step in human development but it is a time where many pregnancies are lost.”So models that can enable us to study this period are urgently needed to help to understand infertility and early pregnancy loss.” Follow James on Twitter.

Published33 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, SAMIULLAH POPAL/EPA-EFE/REX/ShutterstockBy James GallagherHealth and science correspondentScientists have “super-engineered” polio vaccines to prevent them mutating into a dangerous form that can cause outbreaks and paralysis.The oral vaccines contain weakened live polio viruses and the genetic redesign locks them into that weakened state. The US and UK teams have now created upgraded vaccines against all three types of polio. However, better vaccines still need to reach every child in order to stop the disease. Polio can spread into the nervous system, causing paralysis. Cases have fallen by more than 99% since the late 1980s and about 20 million people who would have been paralysed can walk thanks to vaccines. The original or “wild” poliovirus is now contained to small pockets of Afghanistan and Pakistan and the oral vaccines play a pivotal role in the attempt to rid the world of polio. “The issue is they’re genetically unstable,” Dr Andrew Macadam, from the UK’s National Institute for Biological Standards and Control, told BBC News.It takes only one mutation to turn the safe polio vaccine back into a virus that can move out of a child’s stomach, invade their nervous system and cause paralysis. And if those viruses spread from an immunised child – through their contaminated faeces – there is a risk of infecting the unvaccinated and triggering an outbreak. There are now more cases of “vaccine-derived polio” than of the wild poliovirus and the polio detected in London’s sewers last year was connected to the oral vaccine. Polio: Do we have to worry about it once again?So the researchers have genetically altered the weakened virus even further to make it much harder for it to start causing paralysis again. “By genetically modifying this part of the virus, we could modify this region so it couldn’t revert and this I think has been remarkably successful,” Dr Macadam said.Prof Raul Andino, from University of California San Francisco, said he was “super-proud” of the scientific effort showing the vaccine was “50 to 100 times more stable”.Image source, Getty ImagesIn March 2021, the World Health Organization made the researchers’ vaccine against type-two polio available for emergency use.Since then, it has been used more than 650 million times – and, Dr Macadam said, “we’ve never seen a reversion” back to dangerous poliovirus. Now, in the journal Nature, the researchers have detailed the creation of stable vaccines against polio types one and three. The first-stage human trials of the upgraded vaccines have already been conducted – and, the researchers say, the data, which is still being analysed, is “very promising”. The trio represent the first new polio vaccines in 50 years. “I don’t think there’s any question that they’re helpful, the new vaccines address the instability question, but it doesn’t address the coverage issue,” Dr Macadam said.’Impressive science’Tackling the last 1% of polio cases has proven stubborn. The original goal was to completely eradicate polio by the year 2000 – but delivering vaccines to some of the poorest and most conflict-ridden parts of the world has been a challenge. Prof Alan Barrett, from the Sealy Institute for Vaccine Sciences, at the University of Texas, called the “super-engineered” vaccines a feat of “impressive science”.”[But] will it lead the endgame to the finish line? That is a big question,” he added.Joseph Swan, from the World Health Organization and the Global Polio Eradication Initiative, said more stable vaccines were a “significant part” of the plan for a polio-free world.But, he said: “Simply having these new and better tools will not get us over the finish line – vaccination, not just vaccines, is what will end polio.”There was now a “unique opportunity” to eradicate wild poliovirus – but vaccine-derived polio outbreaks were causing problems in places facing “complex humanitarian emergencies”, in the Democratic Republic of Congo and Yemen. Follow Jameson Twitter.

Published25 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, McMaster UniversityBy James GallagherHealth and science correspondentScientists have used artificial intelligence (AI) to discover a new antibiotic that can kill a deadly species of superbug.The AI helped narrow down thousands of potential chemicals to a handful that could be tested in the laboratory.The result was a potent, experimental antibiotic called abaucin, which will need further tests before being used.The researchers in Canada and the US say AI has the power to massively accelerate the discovery of new drugs.It is the latest example of how the tools of artificial intelligence can be a revolutionary force in science and medicine. AI breakthrough could spark medical revolutionStopping the superbugsAntibiotics kill bacteria. However, there has been a lack of new drugs for decades and bacteria are becoming harder to treat, as they evolve resistance to the ones we have. More than a million people a year are estimated to die from infections that resist treatment with antibiotics. The researchers focused on one of the most problematic species of bacteria – Acinetobacter baumannii, which can infect wounds and cause pneumonia.You may not have heard of it, but it is one of the three superbugs the World Health Organization has identified as a “critical” threat. It is often able to shrug off multiple antibiotics and is a problem in hospitals and care homes, where it can survive on surfaces and medical equipment.Dr Jonathan Stokes, from McMaster University, describes the bug as “public enemy number one” as it’s “really common” to find cases where it is “resistant to nearly every antibiotic”.Image source, McMaster University Artificial intelligenceTo find a new antibiotic, the researchers first had to train the AI. They took thousands of drugs where the precise chemical structure was known, and manually tested them on Acinetobacter baumannii to see which could slow it down or kill it. This information was fed into the AI so it could learn the chemical features of drugs that could attack the problematic bacterium. The AI was then unleashed on a list of 6,680 compounds whose effectiveness was unknown. The results – published in Nature Chemical Biology – showed it took the AI an hour and a half to produce a shortlist. The researchers tested 240 in the laboratory, and found nine potential antibiotics. One of them was the incredibly potent antibiotic abaucin.Laboratory experiments showed it could treat infected wounds in mice and was able to kill A. baumannii samples from patients. However, Dr Stokes told me: “This is when the work starts.” The next step is to perfect the drug in the laboratory and then perform clinical trials. He expects the first AI antibiotics could take until 2030 until they are available to be prescribed. Curiously, this experimental antibiotic had no effect on other species of bacteria, and works only on A. baumannii. Many antibiotics kill bacteria indiscriminately. The researchers believe the precision of abaucin will make it harder for drug-resistance to emerge, and could lead to fewer side-effects. Image source, Getty ImagesIn principle, the AI could screen tens of millions of potential compounds – something that would be impractical to do manually.”AI enhances the rate, and in a perfect world decreases the cost, with which we can discover these new classes of antibiotic that we desperately need,” Dr Stokes told me.The researchers tested the principles of AI-aided antibiotic discovery in E. coli in 2020, but have now used that knowledge to focus on the big nasties. They plan to look at Staphylococcus aureus and Pseudomonas aeruginosa next.”This finding further supports the premise that AI can significantly accelerate and expand our search for novel antibiotics,” said Prof James Collins, from the Massachusetts Institute of Technology. He added: “I’m excited that this work shows that we can use AI to help combat problematic pathogens such as A. baumannii.”Follow James on Twitter.

Published8 hours agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy James GallagherHealth and science correspondentGiving plants the starring role in your diet is good for heart health, a review of four decades of data shows. Researchers in Denmark showed vegetarian and vegan diets cut levels of cholesterol and fats in the blood that increase heart attacks. The effect – equivalent to about a third that of taking daily drugs – was “really substantial”, they said.But experts said meat and dairy had their own health benefits – and not all meat-free diets were actually healthy. The research pulled together the 30 trials since 1982 in which scientists gave volunteers a set diet and tracked its impact on heart health. In total, nearly 2,400 people from around the world were involved.High levels of bad cholesterol lead to fatty deposits building up in blood vessels, which can eventually cause heart attacks or strokes. The results, published in the European Heart Journal, showed vegetarian and vegan diets:cut bad cholesterol by 10%cut total cholesterol by 7%cut apolipoprotein B (the main protein in bad cholesterol) by 14%”That corresponds to a third of the effect of a cholesterol-lowering statin [pill] – so that’s really substantial,” Prof Ruth Frikke-Schmidt, who conducted the work, at Rigshospitalet, in Denmark, told BBC News. The studies would have needed to have controlled people’s diets for years or decades to see how that change in the blood played out.But Prof Frikke-Schmidt used data from trials of statins to estimate maintaining such a diet for 15 years could cut the risk of cardiovascular disease by 20%. The World Health Organization estimates cardiovascular disease kills nearly 18 million people every year. Despite the health benefits of following a more plant-based diet, Prof Frikke-Schmidt warned that anyone following such a diet should not come off drugs they have been prescribed because they are at risk of heart disease. Sugary drinksShe choses to eat a mostly plant-based diet, with some chicken and white fish for “my health, the environment and because I like it”.Other diets that incorporate meat, such as the Mediterranean diet, have also been shown to be healthy. Prof Frikke-Schmidt said meat did not have to be excluded but “the important message is ‘plant-based'”, as this was good for both health and the environment.But it is worth noting people on the trials were given “healthy” vegetarian and vegan meals. Vegetables, fruits, nuts, pulses such as chickpeas and wholegrains are very different to sweets, crisps and sugary drinks despite both being meat-free.Podcast: Are ultra-processed vegan meals actually healthy?How healthy are vegan ready meals?”Not all plant-based diets are equal,” Prof Aedin Cassidy, from Queen’s University Belfast, said. And diets such as “those including refined carbohydrates, processed foods high in fat/salt” would still be unhealthy.There have also been questions about the current wave of highly processed vegan foods, which are markedly different to a vegan diet from the 1980s.Quadram Institute chief scientific officer Prof Martin Warren said: “Animal-based products such as meat do represent nutrient-dense foods that have other benefits. “Similarly, crop-based diets can be low in certain micronutrients – so in general, reducing meat consumption but maintaining a broad and varied diet is good for health.”Follow James on Twitter. More on this storyHow healthy are vegan ready meals?Published2 October 2021

Published1 day agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy James GallagherHealth and science correspondentA baby has been born using three people’s DNA for the first time in the UK, the fertility regulator has confirmed.Most of their DNA comes from their two parents and around 0.1% from a third, donor woman. The pioneering technique is an attempt to prevent children being born with devastating mitochondrial diseases.Fewer than five such babies have been born, but no further details have been released. Mitochondrial diseases are incurable and can be fatal within days or even hours of birth. Some families have lost multiple children and this technique is seen as the only option for them to have a healthy child of their own. Mitochondria are the tiny compartments inside nearly every cell of the body that convert food into useable energy.Defective mitochondria fail to fuel the body and lead to brain damage, muscle wasting, heart failure and blindness. UK’s first ‘three-person babies’ approvedThey are passed down only by the mother. So mitochondrial donation treatment is a modified form of IVF that uses mitochondria from a healthy donor egg. There are two techniques for performing mitochondrial donation. One takes places after the mother’s egg has been fertilised by the father’s sperm and the other takes place before fertilisation.However, mitochondria have their own genetic information or DNA which means that technically the resulting children inherit DNA from their parents and a smidge from the donor as well. This is a permanent change that would be passed down through the generations.This donor DNA is only relevant for making effective mitochondria, does not affect other traits such as appearance and does not constitute a “third parent”. The technique was pioneered in Newcastle and laws were introduced to allow the creation of such babies in the UK in 2015. However, the UK did not immediately press ahead. The first baby born via this technique was to a Jordanian family having treatment in the US in 2016. The Human Fertilisation and Embryology Authority (the HFEA) is saying “less than five” babies have been born as of 20 April 2023. It is not giving precise numbers to prevent the families being identified. These limited details have emerged after a Freedom of Information request by the Guardian newspaper. “News that a small number of babies with donated mitochondria have now been born in the UK is the next step, in what will probably remain a slow and cautious process of assessing and refining mitochondrial donation,” said Sarah Norcross, the director of the Progress Educational Trust.There has been no word from the teams in Newcastle so it is still uncertain whether the technique was successful. Prof Robin Lovell-Badge, from the Francis Crick Research Institute, said: “It will be interesting to know how well the mitochondrial replacement therapy technique worked at a practical level, whether the babies are free of mitochondrial disease, and whether there is any risk of them developing problems later in life.”There is technically a risk of “reversion” where any defective mitochondria that are carried over could gain in number and still result in disease. It had once been estimated that up to 150 such babies could eventually be born each year in the UK. More on this storyPatients ‘back three-person babies’Published1 February 2015UK’s first ‘three-person babies’ approvedPublished2 February 2018The girl with three biological parentsPublished1 September 2014

Published35 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy James GallagherHealth and science correspondentA “very concerning” rise in the number of people catching measles in the UK has been reported by health officials. The virus spreads incredibly easily and a fall in vaccination rates is leaving more children vulnerable to infection.There were 54 cases of measles in the whole of last year. However, there have already been 49 in the first four months of 2023.The UK Health Security Agency (UKHSA) is encouraging parents to ensure their children’s vaccinations are up to date.The main symptoms of measles are a fever and a rash. But it can cause more serious complications including meningitis, and an infection can be fatal. That is why the measles, mumps and rubella (MMR) vaccine is part of routine childhood immunisations. Vaccination rates had been falling in the UK before the Covid pandemic. However, the disruption caused by Covid has dented vaccination programmes around the world, including in the UK, meaning even more children have missed out. The World Health Organization has already warned of a “perfect storm” for measles, because the fewer people who receive protection from vaccines, the easier it is for outbreaks to happen. Measles jumps from person to person so readily that 95% of people need to be immunised to block its spread. However, the UKHSA said only 85% of five-year-olds in England have received the recommended two doses. The increase in UK measles cases is centred on London, but there have been infections elsewhere. Twelve of the cases were caught while abroad, with the rest reflecting spread within the UK.”It is very concerning to see cases starting to pick up this year,” said Dr Vanessa Saliba, from the UKHSA. She added: “We are calling on all parents and guardians to make sure their children are up to date with their two MMR doses. It’s never too late to catch up, and you can get the MMR vaccine for free on the NHS whatever your age.” The UKHSA said it was particularly important to get vaccinated before the summer as measles may be more common in other countries, and festivals are a well-known source of measles outbreaks. Measles vaccinations were introduced in the UK in 1968. Since then, they are estimated to have prevented 20 million measles cases and 4,500 deaths.More on this storyUS sees biggest measles outbreak since 201929 December 2022Child measles warning as MMR jab rate drops1 February 2022

Published16 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy James GallagherHealth and science correspondentWe could be entering the era of Alzheimer’s treatments, after the second drug in under a year has been shown to slow the disease. Experts said we were now “on the cusp” of drugs being available, something that had recently seemed “impossible”. The company Eli Lilly has reported its drug – donanemab – slows the pace of Alzheimer’s by about a third. However two volunteers, and possibly a third, died as a result of dangerous swelling in the brain. Sticky gunkDonanemab works in the same way as lecanemab, which created headlines around the world when it was the proven to slow the disease. Both are antibodies like those the body makes to attack viruses. But these are engineered to clear a sticky gunk from the brain, called beta amyloid.Amyloid builds up in the spaces between brain cells, forming distinctive plaques that are one of the hallmarks of Alzheimer’s.”The decades-long battle to find treatments that change Alzheimer’s disease is changing,” Dr Cath Mummery, the clinical lead for the cognitive-disorders clinic at the UK’s National Hospital for Neurology and Neurosurgery, said.”We are now entering the time of disease modification, where we might realistically hope to treat and maintain someone with Alzheimer’s disease, with long-term disease management rather than palliative and supportive care.”The full details of Eli Lilly’s trial have yet to be published – but it has revealed the key findings:1,734 people in the earliest stages of Alzheimer’s took partDonanemab was given as a monthly infusion until the distinctive plaques in the brain were goneThe pace of the disease was slowed by about 29% overall – and by 35% in a set of patients researchers thought more likely to respondThose given the drug also retained more of their day-to-day lives such as being able to discuss current events, drive or pursue hobbies However, brain swelling was a common side-effect in up to a third of patients. It was mostly mild or asymptomatic despite being detected on brain scans – but 1.6% developed dangerous brain swelling, with two deaths directly attributed to it and a third volunteer dying after such a case.”We are encouraged by the potential clinical benefits that donanemab may provide, although like many effective treatments for debilitating and fatal diseases, there are associated risks that may be serious and life-threatening,” Eli Lilly group vice-president of neuroscience research and development Dr Mark Mintun said.The company said it would begin the process of having its drug approved for use in hospitals in the next few months. Dr Liz Coulthard, from the University of Bristol, said there were “significant side-effects” and a lack of long-term data but the drug could “help people live well with Alzheimer’s for longer”.’Thought impossible’Having two drugs slow the disease by targeting amyloid in the brain has also convinced scientists they are on the right track after decades of misery and failure. “This should dispel any lingering doubts about this approach,” Prof John Hardy, from the UK Dementia Research Institute, whose work led to the idea of targeting amyloid, 30 years ago, said. “Having two drugs is great for competition.”Dr Susan Kolhaas, from Alzheimer’s Research UK, said: “We’re now on the cusp of a first generation of treatments for Alzheimer’s disease, something that many thought impossible only a decade ago.”However, these drugs appear to work in only the earliest stages of the disease – before the brain is too damaged.And if they are approved in the UK, it would still take a revolution in how the disease is diagnosed to make a difference. Only 1-2% of people have either brain scans or a spinal-fluid analysis to determine whether they actually have Alzheimer’s or another form of dementia against which the drugs would be useless.Follow James on Twitter.More on this storyAlzheimer’s drug hailed as momentous breakthrough30 November 2022

Published2 days agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy James GallagherHealth and science correspondentRelics of ancient viruses – that have spent millions of years hiding inside human DNA – help the body fight cancer, say scientists. The study by the Francis Crick Institute showed the dormant remnants of these old viruses are woken up when cancerous cells spiral out of control.This unintentionally helps the immune system target and attack the tumour.The team wants to harness the discovery to design vaccines that can boost cancer treatment, or even prevent it. The researchers had noticed a connection between better survival from lung cancer and a part of the immune system, called B-cells, clustering around tumours. Image source, Getty ImagesB-cells are the part of our body that manufactures antibodies and are better known for their role in fighting off infections, such as Covid. Precisely what they were doing in lung cancer was a mystery but a series of intricate experiments using samples from patients and animal tests showed they were still attempting to fight viruses.”It turned out that the antibodies are recognising remnants of what’s termed endogenous retroviruses,” Prof Julian Downward, an associate research director at the Francis Crick Institute, told me. Retroviruses have the nifty trick of slipping a copy of their genetic instructions inside our own. More than 8% of what we think of as “human” DNA actually has such viral origins Some of these retroviruses became a fixture of our genetic code tens of millions of years ago and are shared with our evolutionary relatives, the great apes Other retroviruses may have entered our DNA a few thousand years agoSome of these foreign instructions have, over time, been co-opted and serve useful purposes inside our cells, but others are tightly controlled to stop them spreading. However, chaos dominates inside a cancerous cell when it is growing uncontrollably and the once tight control of these ancient viruses is lost.These ancient genetic instructions are no longer able to resurrect whole viruses but they can create fragments of viruses that are enough for the immune system to spot a viral threat. “The immune system is tricked into believing that the tumour cells are infected and it tries to eliminate the virus, so it’s sort of an alarm system,” Prof George Kassiotis, head of retroviral immunology at the biomedical research centre, told me.The antibodies summon other parts of the immune system that kill off the “infected” cells – the immune system is trying to stop a virus but in this case is taking out cancerous cells. Prof Kassiotis says it is a remarkable role reversal for retroviruses which, in their heyday, “might have been causing cancer in our ancestors” due to the way they invade our DNA, but are now protecting us from cancer, “which I find fascinating”, he adds. The study, published in the journal Nature, describes how this happens naturally in the body but the researchers want to enhance that effect by developing vaccines to teach the body how to hunt for endogenous retroviruses. “If we can do that, then you can think not only of therapeutic vaccines, you can also think of preventative vaccines,” said Prof Kassiotis.The research came out of the TracerX study which has been tracking lung cancers in unprecedented detail and this week showed cancer’s “near infinite” ability to evolve. It led the researchers running the trial to call for more focus on preventing cancer as it was so hard to stop. Dr Claire Bromley, from Cancer Research UK, said: “All of us have ancient viral DNA in our genes, passed down from our ancestors, and this fascinating research has highlighted the role it plays in cancer and how our immune system can recognise and destroy cancer cells.”She said “more research” was needed to develop a cancer vaccine but “nevertheless, this study adds to the growing body of research that could one day see this innovative approach to cancer treatment become a reality.” Follow James on Twitter.

Published29 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, Brogden familyBy James GallagherHealth and science correspondentThousands of children with severe developmental disorders have finally been given a diagnosis, in a study that found 60 new diseases. Children, and their parents, had their genetic code – or DNA – analysed in the search for answers to their condition. There are thousands of different genetic disorders. Having a diagnosis can lead to better care, help parents to decide whether to have more children, or simply provide an explanation for what is happening.Taken individually the disorders are rare, but collectively they affect one in every 17 people in the UK.The Deciphering Developmental Disorders study, conducted over 10 years, was a collaboration between the NHS, universities and the Sanger Institute, which specialises in analysing DNA.Among the findings, researchers discovered Turnpenny-Fry syndrome. It is caused by errors in one genetic instruction within our DNA and leads to learning difficulties. It also affects growth, resulting in a large forehead and sparse hair. Jessica Fisher’s son, Mungo – who took part in the study – was diagnosed with the syndrome.At the time, he was one of only two people in the world to be diagnosed with it. The other child was in Australia, but Jessica recalls that the Australian child’s physical similarities to Mungo were so strong they “could have been his sibling”.Image source, Fisher familyJessica subsequently started an online support group, which is now made up of 36 families from around the world, including America, Brazil, Croatia and Indonesia.”It’s devastating to learn that your child has a rare genetic disorder, but getting the diagnosis has been key to bringing us together,” said Jessica.The study analysed the genetic code of 13,500 families with unexplained disorders – and was able to give a diagnosis to 5,500 of them. The results, published in the New England Journal of Medicine, revealed 60 of those disorders were new conditions. Most were errors that had occurred spontaneously at conception, rather than being inherited. Prof Caroline Wright, from the University of Exeter, told the BBC: “We were able to find new genetic conditions, which means that not only people in the study benefit, but there are huge benefits to future generations.”Getting a genetic diagnosis is hugely important to families. It allows them to speak to other families who might be affected by the same condition, and hopefully target much more personalised management and ultimately treatment.”Around a quarter of children in the study had their treatment changed once a clear diagnosis was given. Image source, Brogden familyThis kind of genetic analysis is becoming more routine within NHS care.The discovery of Turnpenny-Fry syndrome meant Dasha Brogden’s daughter, Sofia, was diagnosed when she was just one month old.Her diagnosis made everyone aware heart conditions were a possibility, and a scan led to Sofia – now aged nearly three – having surgery when she was two months old.Dasha, from Oxfordshire, said: “For us, getting a diagnosis really helped us to understand what to expect. Compared to families who came before the condition had an official diagnosis, we were lucky. Follow James on Twitter.

Published6 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, University of OxfordBy James GallagherHealth and science correspondentGhana is the first country to approve a new malaria vaccine that has been described as a “world-changer” by the scientists who developed it. The vaccine – called R21 – appears to be hugely effective, in stark contrast to previous ventures in the same field.Ghana’s drug regulators have assessed the final trial data on the vaccine’s safety and effectiveness, which is not yet public, and have decided to use it.The World Health Organization is also considering approving the vaccine.Malaria kills about 620,000 people each year, most of them young children. It has been a massive, century-long, scientific undertaking to develop a vaccine that protects the body from the malaria parasite. Trial data from preliminary studies in Burkina Faso showed the R21 vaccine was up to 80% effective when given as three initial doses, and a booster a year later. New malaria vaccine is world-changing, say scientistsBut widespread use of the vaccine hinges on the results of a larger trial involving nearly 5,000 children. These had been expected to take place at the end of last year, but have still not been formally published. However, they have been shared with some government bodies in Africa, and scientists. I have not seen the final data, but have been told it shows a similar picture to the earlier studies.Ghana’s Food and Drugs Authority, which has seen the data, has approved the vaccine’s use in children aged between five months to three years old.Other African countries are also studying the data, as is the World Health Organization. Prof Adrian Hill, director of the Jenner Institute at the University of Oxford, where the vaccine was invented, says African countries are declaring: “we’ll decide”, after being left behind in the rollout of Covid-19 vaccines during the pandemic. He told me: “We expect R21 to make a major impact on malaria mortality in children in the coming years, and in the longer term [it] will contribute to overall final goal of malaria eradication and elimination.” The Serum Institute of India is preparing to produce between 100-200 million doses per year, with a vaccine factory being constructed in Accra, Ghana. Each dose of R21 is expected to cost a couple of dollars.Adar Poonawalla, CEO of the Serum Institute, said: “Developing a vaccine to greatly impact this huge disease burden has been extraordinarily difficult.”He added that Ghana, as the first country to approve the vaccine, represents a “significant milestone in our efforts to combat malaria around the world”.Follow James on Twitter.