Read the latest positive news, breakthroughs, and inspiring stories about genetic disorder, curated daily by BrightWire.
Adults in England and Wales with a rare genetic disorder that causes dangerously high triglycerides now have access to a new once-monthly treatment through the NHS. The approval gives hope to over 100 people living with a condition that can trigger life-threatening pancreatitis attacks.
Adults with a rare disease that turns muscles into bone finally have an FDA-approved treatment that cuts new bone formation by 90%. The drug offers hope to about 900 people worldwide who face progressive loss of mobility from fibrodysplasia ossificans progressiva.
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 decades-old medication is giving hope to children with Bachmann-Bupp syndrome, a genetic disorder affecting only 20 people worldwide. Early treatments show the drug may ease severe symptoms by targeting the root cause.
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.
Scientists at Texas Children's Hospital discovered a promising way to treat Rett syndrome, a rare disorder affecting 1 in 10,000 girls. The breakthrough could help 65% of patients by boosting levels of a partially working protein in their brains.
Scientists at Texas Children's Hospital discovered a promising way to treat Rett syndrome, a rare disorder that affects 1 in 10,000 girls and currently has no cure. The breakthrough could help 65% of patients by boosting levels of a partially working protein in their brains.
Children with a rare genetic disorder are developing normally thanks to an enzyme therapy crossing the blood-brain barrier. The FDA could approve the treatment this spring, offering hope to families worldwide.