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13525 results for "rare genetic diseases"
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.
Two Philadelphia research teams just received millions in federal funding to develop one-dose gene therapies that could cure rare genetic diseases within five years. The breakthrough approach uses AI and new delivery methods to create treatments that work for multiple patients instead of requiring custom therapy for each person.
A new AI-powered company is helping families with ultra-rare diseases develop personalized treatments that big pharma overlooks. Founded by a rare disease patient, Nome has already guided more than 10 genetic medicine programs from diagnosis to clinical trials.
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.
For 40 years, treating a rare genetic lung disease meant weekly IV infusions at a clinic. Now a pill that blocks 90% of the damaging enzyme just secured a nearly half-billion dollar deal to reach American patients.
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.
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 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.
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.
Pearl Jam's Eddie Vedder and Canadian director Matt Finlin created a documentary following the race to cure epidermolysis bullosa, a devastating skin disease affecting children worldwide. The Netflix film captures breakthrough research that could unlock treatments for thousands of rare diseases.
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 studying over one million people discovered a rare genetic mutation that slashes the risk of heart disease and diabetes by 60 percent. The discovery could lead to new treatments that protect everyone from deadly metabolic 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.
Scientists just achieved a major breakthrough in treating two rare muscle diseases that currently have no cure. Early trials show a new delivery method gets medicine directly into muscle cells without serious side effects.
Children with a rare genetic liver disorder that often leads to transplant now have their first treatment to slow disease progression. After 20 years of research, Japanese doctors turned an existing drug into a life-changing option for young patients with PFIC.
Morocco just launched a Precision Medicine Hub that will help thousands of patients with rare diseases get faster diagnoses and coordinated care. The new national center brings together advanced genetic testing, specialist teams, and patient support under one roof.
A mother whose daughter was diagnosed with a rare genetic disorder created an AI platform that saves families 53 hours a week and accelerates treatment research by up to 50%. Citizen Health now helps over 8,000 patients across 350 rare diseases navigate care and connect with others facing the same challenges.
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.
Children and adults with a rare genetic disease that required eating every few hours can now receive a one-time gene therapy treatment. The FDA approval marks the first treatment to address the root cause of glycogen storage disease type Ia.
A groundbreaking initiative promises to make personalized genetic treatments affordable and accessible for millions of children with rare diseases. The "One to Millions" platform transforms how we develop and approve individualized therapies.
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