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New babies born free of devastating genetic diseases using DNA from three people
New babies born free of devastating genetic diseases using DNA from three people

SBS Australia

time6 days ago

  • Health
  • SBS Australia

New babies born free of devastating genetic diseases using DNA from three people

"Lily was my third daughter. She was born five weeks early, small, but otherwise healthy. Around about seven weeks old, she started to have these absent seizures where she would stop breathing and just sort of stare into space. And then we had the situation where she had two cardiac arrests. And she was rushed into intensive care and put on a life support machine." She's reflecting on her daughter Lily, who was born with a rare genetic condition. Doctors struggled to find answers, and further tests eventually confirmed a life-limiting condition with no treatment: mitochondrial disease. Robin Lovell-Badge is the Head of Stem Cell Biology and Developmental Genetics at The Francis Crick Institute. "Mitochondria are these little energy-producing factories, if you like, which all our cells contain. They have their own DNA, and if that DNA carries a mutation, or is a pathogenic variant, it can cause a whole range of different types of disease according to specific mutation, but these are all a nasty set of diseases where children can suffer a lot and die. It's particularly important for energy-demanding tissues like brain and muscle." Lily's family ultimately brought her home after the doctors told them there was nothing more they could do. And for six precious months, she defied expectations. "And I guess it was during those six months that we really started to understand what mitochondrial disease was, what the implications of it were." Over the ocean from the UK lives Ash Greenhalgh, a 28 year old woman from Brisbane who has Leber Hereditary Optic Neuropathy disease, which affects her vision. Her younger brother also has it, as does her mother. "Leading on from my vision loss when I was a child and kind of growing into my teenage years... it was an illness and a disorder with my eyes that was not visible to the people around me. It was internal, which made it very difficult for people to support me and understand. A lot of the times I would hear things like 'won't glasses fix that', which is not the way it works with LHON." Ash says she was overcome upon hearing that scientists at Britain's Newcastle University and Australia's Monash University have pioneered a treatment aimed at preventing such genetic diseases in children. "I cried. I cried. Obviously it's not something that's happening any time soon, but it means the world... I have a lot of gratitude for Monash, I have a lot of gratitude for the researchers who have put in so many countless hours into the research into doing what was the right thing, and helping the community. Because it is genuinely going to make a lot of difference for a lot of people." The idea behind the technique is to produce children who are born free of devastating genetic diseases, including mitochondrial disease, which is passed down through the mother's line. Robin Lovell-Badge says the method uses DNA from three people - the mother's egg, the father's sperm, and a donor's mitochondria - transferring pieces from inside the mother's fertilised egg into a healthy egg provided by the anonymous donor. "What's happened in this case is that they've used a technique called pronuclear transfer which effectively replaces the bad mitochondria with good mitochondria. You actually swap the nuclear genetic material, rather than move the mitochondria around, but you have a donor egg where you remove the nucleus and you replace it with the nucleus from the patient embryo."

Wellcome Photography Prize 2025: Domestic abuse, climate and health
Wellcome Photography Prize 2025: Domestic abuse, climate and health

Euronews

time16-07-2025

  • Entertainment
  • Euronews

Wellcome Photography Prize 2025: Domestic abuse, climate and health

The Wellcome Photography Prize, which offers image-makers a platform to showcase the impact of science and health on lives around the world, has unveiled this year's winners. 2025's laureates are UK-based artist Sujata Setia; Bangladeshi documentary and street photographer Mithail Afrige Chowdhury; and UK-based electron microscopy specialist and science photographer Steve Gschmeissner. Their works capture powerful stories exploring domestic abuse, climate migration and the hidden dangers of cholesterol. Each awarded a £10,000 prize at a ceremony held at the Francis Crick Institute in London. Check out their winning images: A Thousand Cuts by Sujata Setia (Storytelling Series) Sujata Setia was recognised for A Thousand Cuts, a portrait project developed with survivors of domestic abuse within South Asian communities. 'Each image is a composite of personal testimony, visual symbolism, and traditional craft. Setia worked with the women and with the charity SHEWISE to create portraits that protected anonymity without erasing identity, applying the Indian paper-cutting technique sanjhi to overlay each photograph.' Check out Euronews Culture's video on the A Thousand Cuts project. About the win, Sujata Setia said: 'This is a monumental recognition. A Thousand Cuts being selected for Wellcome Photography Prize affirms that health cannot be separated from the histories that shape it. And that domestic abuse is never a singular event; it leaves a direct, trans-generational imprint on health.' 'As a child who grew up in a home where violence was a daily occurrence, I carry that trauma like another limb,' she added. 'This recognition validates not just my story, but the invisible, intangible, yet deeply scarring legacy of gender-based abuse.' 'Domestic abuse is one of the most widespread global crimes; and yet remains among the least publicly acknowledged health crises. I hope this moment becomes a catalyst for deeper dialogue and scholarship around the interrelation between domestic abuse and health. That is our collective hope.' Urban Travel by Mithail Afrige Chowdhury (Striking Solo Photography) 'A deceptively gentle image of a mother and daughter on a rooftop picnic in Dhaka. With few parks left in the city due to rapid urbanisation, this staged moment, a simple attempt to give a child a taste of nature, becomes an act of resilience.' 'Nearly half of Dhaka's population today are climate migrants, displaced by increasingly extreme weather, and Chowdhury's work highlights the everyday consequences of these shifts: the loss of green space, of childhood rituals, of breath.' About the win, Mithail Afrige Chowdhury said: 'When I got the news, the first thing I did was charge my camera— not to take a photo, but to restart something I thought I'd lost. I won't dwell on personal or professional hardships, but this moment means more than I can say.' Chowdhury added: 'I made this image two years ago, as part of a major project on climate change, urban sustainability, and public health. Then life intervened, and fear slowly pulled me away from the work I loved. But now, I can wake up with an objective. Because someone has my back. And that makes all the difference. Awards can feel technical but this recognition from Wellcome feels deeply human.' Cholesterol in the Liver by Steve Gschmeissner (The Marvels of Scientific and Medical Imaging) Steve Gschmeissner's electron microscopy image Cholesterol in the Liver reveals cholesterol crystals (shown in blue) forming inside lipid-laden liver cells (purple). 'These microscopic shifts, invisible to the naked eye, can have deadly consequences: when cholesterol hardens from liquid to crystal, it damages blood vessels and contributes to heart disease and strokes. Gschmeissner's colourised SEM image transforms this biological process into something visually striking, part data, part artwork. With a career spanning over four decades, and more than 10,000 images published in scientific journals, stamp collections, fashion collaborations, and music albums, his work exemplifies how imaging can bridge science and culture.' About the win, Steve Gschmeissner said: 'When I discovered that Wellcome had reintroduced the Marvels of Scientific and Medical Imaging category, I was delighted to enter such a prestigious competition. I was thrilled to be shortlisted, and winning first prize is undoubtedly one of the highlights of my 50-year career of trying to bring the wonders of the microscopic world to all.' You can find the full list of the finalists for the Storytelling, Striking Solo Photography and The Marvels of Scientific and Medical Imaging here. Wellcome supports discovery research into life, health and wellbeing, and take on three worldwide health challenges: mental health, infectious disease and climate and health. The top 25 entries are on display in the Wellcome Photography Prize 2025 exhibition, which is free and open to the public at the Francis Crick Institute, London, running from 17 July to 18 October 2025.

Scientists launch controversial project to create the world's first artificial human DNA
Scientists launch controversial project to create the world's first artificial human DNA

Yahoo

time04-07-2025

  • Health
  • Yahoo

Scientists launch controversial project to create the world's first artificial human DNA

[Source] Researchers at five British universities have launched the Synthetic Human Genome Project (SynHG) with an initial grant of approximately $12.6 million from Wellcome, the U.K.'s largest biomedical research charity. Unveiled on Thursday, the five-year effort is led by molecular biologist Jason W. Chin at the Medical Research Council Laboratory of Molecular Biology in Cambridge and aims to assemble an entire human chromosome, base by base, inside the lab. Writing a genome Instead of tweaking existing DNA with tools such as CRISPR, SynHG will attempt to 'write' long stretches of code before inserting them into cultured human skin cells to study how chromosome architecture drives health and disease. The project builds on Chin's earlier success constructing a fully synthetic E. coli genome. The laboratory playbook blends generative-AI sequence design with high-throughput robotic assembly, allowing scientists to plan and assemble millions of DNA bases. Patrick Yizhi Cai of the University of Manchester, who oversees these methods, says the approach 'leverag[es] cutting-edge generative AI and advanced robotic assembly technologies to revolutionize synthetic mammalian chromosome engineering.' Trending on NextShark: Why experts are cautious Geneticist Robin Lovell-Badge of London's Francis Crick Institute emphasized the importance of understanding not only the scientific potential but also the societal values and risks involved. He warned that as research progresses, there is the possibility of creating synthetic cells that could, if used in humans, lead to tumors or produce novel infectious particles if not carefully designed. Lovell-Badge recommended that any engineered cells should include safeguards, such as inducible genetic kill switches, to ensure they can be eliminated from the body or targeted by the immune system if needed. Sarah Norcross, director of the Progress Educational Trust, echoed the need for transparency and public engagement, highlighting that synthesizing human genomes is controversial and requires researchers and the public to be in active communication. Norcross welcomed the project's built-in social science program, which surveys communities across Asia-Pacific, Africa, Europe and the Americas as the science unfolds and is led by social scientist Joy Yueyue Zhang, as a way to ensure that public interests and concerns are considered from the outset. Trending on NextShark: Road ahead Over the next five years, the consortium will iterate design–build–test cycles, aiming first for an error-free synthetic chromosome representing roughly 2% of human DNA. Alongside the laboratory milestones, the team plans to release an open-access toolkit covering both the technical and governance lessons learned. Trending on NextShark: This story is part of The Rebel Yellow Newsletter — a bold weekly newsletter from the creators of NextShark, reclaiming our stories and celebrating Asian American voices. Subscribe free to join the movement. If you love what we're building, consider becoming a paid member — your support helps us grow our team, investigate impactful stories, and uplift our community. ! Trending on NextShark: Download the NextShark App: Want to keep up to date on Asian American News? Download the NextShark App today!

Scientists launch controversial project to create the world's first artificial human DNA
Scientists launch controversial project to create the world's first artificial human DNA

Yahoo

time04-07-2025

  • Health
  • Yahoo

Scientists launch controversial project to create the world's first artificial human DNA

[Source] Researchers at five British universities have launched the Synthetic Human Genome Project (SynHG) with an initial grant of approximately $12.6 million from Wellcome, the U.K.'s largest biomedical research charity. Unveiled on Thursday, the five-year effort is led by molecular biologist Jason W. Chin at the Medical Research Council Laboratory of Molecular Biology in Cambridge and aims to assemble an entire human chromosome, base by base, inside the lab. Writing a genome Instead of tweaking existing DNA with tools such as CRISPR, SynHG will attempt to 'write' long stretches of code before inserting them into cultured human skin cells to study how chromosome architecture drives health and disease. The project builds on Chin's earlier success constructing a fully synthetic E. coli genome. The laboratory playbook blends generative-AI sequence design with high-throughput robotic assembly, allowing scientists to plan and assemble millions of DNA bases. Patrick Yizhi Cai of the University of Manchester, who oversees these methods, says the approach 'leverag[es] cutting-edge generative AI and advanced robotic assembly technologies to revolutionize synthetic mammalian chromosome engineering.' Trending on NextShark: Why experts are cautious Geneticist Robin Lovell-Badge of London's Francis Crick Institute emphasized the importance of understanding not only the scientific potential but also the societal values and risks involved. He warned that as research progresses, there is the possibility of creating synthetic cells that could, if used in humans, lead to tumors or produce novel infectious particles if not carefully designed. Lovell-Badge recommended that any engineered cells should include safeguards, such as inducible genetic kill switches, to ensure they can be eliminated from the body or targeted by the immune system if needed. Sarah Norcross, director of the Progress Educational Trust, echoed the need for transparency and public engagement, highlighting that synthesizing human genomes is controversial and requires researchers and the public to be in active communication. Norcross welcomed the project's built-in social science program, which surveys communities across Asia-Pacific, Africa, Europe and the Americas as the science unfolds and is led by social scientist Joy Yueyue Zhang, as a way to ensure that public interests and concerns are considered from the outset. Trending on NextShark: Road ahead Over the next five years, the consortium will iterate design–build–test cycles, aiming first for an error-free synthetic chromosome representing roughly 2% of human DNA. Alongside the laboratory milestones, the team plans to release an open-access toolkit covering both the technical and governance lessons learned. Trending on NextShark: This story is part of The Rebel Yellow Newsletter — a bold weekly newsletter from the creators of NextShark, reclaiming our stories and celebrating Asian American voices. Subscribe free to join the movement. If you love what we're building, consider becoming a paid member — your support helps us grow our team, investigate impactful stories, and uplift our community. ! Trending on NextShark: Download the NextShark App: Want to keep up to date on Asian American News? Download the NextShark App today!

4,800-Year-Old Teeth Yield First Human Genome from Ancient Egypt
4,800-Year-Old Teeth Yield First Human Genome from Ancient Egypt

Scientific American

time03-07-2025

  • Science
  • Scientific American

4,800-Year-Old Teeth Yield First Human Genome from Ancient Egypt

Teeth from an elderly man who lived around the time that the earliest pyramids were built have yielded the first full human genome sequence from ancient Egypt. The remains are 4,800 to 4,500 years old, overlapping with a period in Egyptian history known as the Old Kingdom or the Age of Pyramids. They harbour signs of ancestry similar to that of other ancient North Africans, as well as of people from the Middle East, researchers report today in Nature. 'It's incredibly exciting and important,' says David Reich, a population geneticist at Harvard Medical School in Boston, Massachusetts, who was not involved in the study. 'We always hoped we would get our first ancient DNA from mummies.' On supporting science journalism If you're enjoying this article, consider supporting our award-winning journalism by subscribing. By purchasing a subscription you are helping to ensure the future of impactful stories about the discoveries and ideas shaping our world today. Numerous labs have tried to extract DNA from ancient Egyptian remains. In 1985, evolutionary geneticist Svante Pääbo reported the first ancient DNA sequences from any human: several thousand DNA letters from a 2,400-year-old Egyptian mummy of a child. But Pääbo, who won a Nobel prize in 2022 for other work, later realized that the sequences were contaminated with modern DNA — possibly his own. A 2017 study generated limited genome data from three Egyptian mummies that lived between 3,600 and 2,000 years ago. The hot North African climate speeds up the breakdown of DNA, and the mummification process might also accelerate it, said Pontus Skoglund, a palaeogeneticist at the Francis Crick Institute in London who co-led the Nature study, at a press briefing. 'Mummified individuals are probably not a great way to preserve DNA.' The remains that Skoglund's team sequenced pre-date widespread mummification: the person was interred instead in a ceramic pot, a sign of high, but not elite, status. The remains were found at an archaeological site called Nuwayrat, 265 kilometres south of Cairo along the Nile river. The teeth and bones were discovered in 1902, when Egypt was under British colonial rule. They were donated to institutions in Liverpool, UK, where they have been ever since, even surviving German bombing during the Second World War. Low expectations Skoglund says his expectations were low when his team extracted DNA from several teeth from the Nuwayrat individual. But two samples contained enough authentic ancient DNA to generate a full genome sequence. Y-chromosome sequences indicated that the remains belonged to a male. The majority of his DNA resembled that of early farmers from the Neolithic period of North Africa around 6,000 years ago. The rest most closely matched people in Mesopotamia, a historical Middle Eastern region that was home to the ancient Sumerian civilization, and was where some of the first writing systems emerged. It's not clear whether this implies a genetic direct link between members of Mesopotamian cultures and people in ancient Egypt — also hinted at by similarities in some cultural artefacts — or whether the man's Mesopotamian ancestry arrived through other unsampled populations, the researchers say. The rest of the ancient Egyptian man's bones revealed more details about his life. Evidence of arthritis and osteoporosis suggest he died at an advanced age for the time, possibly in his sixties. Other signs of wear indicate a life of physical toil, sitting hunched over on hard surfaces. On the basis of this and imagery from other tombs from this period, he might have been a potter, said co-author Joel Irish, a bioarchaeologist at Liverpool John Moores University, at the press briefing. 'The publication of a whole-genome data set of an ancient Egyptian constitutes a significant achievement in the field of molecular Egyptology,' says Yehia Gad, a geneticist at Egypt's National Research Centre in Cairo, who praises the researchers for presenting the provenance of the remains clearly. But he points out that the genome is from one individual and might not fully represent ancient Egypt's gene pool, which was probably a melting pot of different ancestries. For this reason, researchers are eager for more ancient Egyptian genome data — perhaps even from a mummy. Advances in ancient-genomics technology and local capacity — Gad supervises an ancient DNA lab at the National Museum of Egyptian Civilization in Cairo — means it hopefully won't take another 40 years.

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