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14161 results for "rare genetic condition"
Over 100 scientists used Google DeepMind's new AI tool to hunt for diagnoses for 29 families living with mysterious genetic conditions. The technology can decode the 98% of human DNA that doesn't make proteins, opening new hope for 350 million people with undiagnosed rare diseases.
People with a rare genetic disorder that causes dangerous fat buildup in their blood now have a breakthrough treatment that cuts triglyceride levels by nearly a third. The UK just approved olezarsen for adults with familial chylomicronemia syndrome, a condition that can trigger life-threatening pancreas inflammation.
UK regulators just approved olezarsen, the first treatment in years for familial chylomicronemia syndrome, a rare genetic condition that can cause life-threatening pancreatic inflammation. Clinical trials showed patients reduced dangerous fat levels by a third while experiencing fewer emergency attacks.
Scientists in Austin are developing a one-of-one therapy for baby Everett Blomstrom, who has an ultra-rare genetic disease affecting fewer than 50 people worldwide. The experimental treatment could be ready in two years and represents a breakthrough in personalized medicine for rare conditions.
Children with rare genetic growth disorders grew twice as fast after starting a groundbreaking treatment, offering hope where few options existed before. The therapy worked especially well for kids whose condition directly matched the drug's target.
British tennis player Francesca Jones, who was told she'd never play professionally due to a rare genetic condition, achieved direct entry into the Australian Open main draw for the first time after a career-changing 2024 season. The 25-year-old went from considering retirement to climbing back inside the world's top 75.
Scientists developed a simple blood test that can detect thousands of genetic conditions in developing babies without risky invasive procedures. The breakthrough could spare expectant parents from difficult decisions about amniocentesis and other tests that carry miscarriage risks.
The FDA just approved the first treatment for Menkes disease, a rare genetic disorder that has claimed countless young lives. Copper histidinate could help babies with this devastating condition finally have a fighting chance.
Scientists at the University of British Columbia have created the first topical gene therapy that corrects faulty DNA directly in human skin, offering hope for patients with painful genetic skin disorders who currently have no cure. The breakthrough treatment could eventually help millions with conditions ranging from rare inherited diseases to common eczema.
A Wellington baby may be the only person on Earth with his specific genetic condition, but his parents' determination and medical breakthroughs are giving him a fighting chance. One year after his diagnosis, Archie Eaton is finally gaining weight and reaching new milestones.
Jeffrey Randall Allen won $10 million on Amazon's Beast Games and immediately directed millions toward researching a cure for his son Lucas's rare genetic disorder. His mission is bringing unprecedented funding and attention to Creatine Transporter Deficiency, a condition that affects how the brain accesses a critical nutrient.
The FDA just unveiled a breakthrough framework that could bring life-saving gene therapies to thousands of children with rare diseases in a fraction of the time. For families who've watched their kids suffer while treatments stall, this changes everything.
Scientists analyzed nearly 3,000 patients and discovered that a gene previously thought to only affect immunity actually causes a rare neurological condition. The breakthrough could help diagnose people who've lived years without answers about their movement difficulties.
People with hereditary angioedema, a rare genetic condition causing painful and sometimes life-threatening swelling, now have a new prevention option in the UK. The treatment could help thousands reduce attacks and reclaim their daily lives.
Scientists are using a safer twist on gene editing to treat diseases by flipping genetic switches instead of cutting DNA. The first trial results for a rare muscular disorder just arrived, and they're opening doors for conditions from high cholesterol to inherited diseases.
Scientists at UT Austin mapped the protein networks of a billion-year-old organism that gave rise to all complex life, uncovering hundreds of genes connected to human diseases. The breakthrough has already helped identify genetic causes of three rare disorders.
Laxmi Chaudhari faced rejection and underwent surgeries trying to fix her rare facial condition. Then she made a harder choice: accepting herself exactly as she is.
A new AI algorithm called EvORanker is ending the decade-long "diagnostic odyssey" for families with rare diseases, identifying the correct disease-causing gene in 70% of test cases. The tool looks across evolution to spot hidden genetic patterns that traditional medicine misses.
Scientists matched vitamins to genetic diseases and discovered that vitamin B3 dramatically extends survival in mice with NAXD deficiency, a disorder that usually kills children within months. This genetics-first approach could unlock safe, affordable treatments for dozens of rare genetic diseases.
Around 20 people in England with a debilitating genetic condition can now access the first treatment that targets the root cause of their disease. The NHS will provide pegzilarginase to patients with arginase-1 deficiency after breakthrough approval.
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