Rett syndrome is a devastating rare genetic childhood disorder primarily affecting girls. Merely 1 out of 10,000 girls are ...

Rett syndrome is a devastating rare genetic childhood disorder primarily affecting girls. Merely 1 out of 10,000 girls are ...

Jazz, 26, set sail from Brighton on Monday, June 2, aiming to become the first disabled person to make the journey around British Isles non-stop and unassisted. Her ‘Project Fear’ challenge smashed ...

AI-enabled drug discovery approach identified potentially game-changing treatment which has been advanced from the lab bench to an FDA Orphan Drug ...

Of the 258 participants, 195 were cognitively asymptomatic, 34 had mild cognitive impairment, 23 had dementia, and six had an ...

After an abnormal NIPT finding in a pregnant woman, a maternal-fetal medicine doctor orders a second NIPT, against recommendations.

June 9, 2025 — A rare genetic disorder called Werner syndrome causes premature aging and devastating health complications from an early age, yet treatment options have been lacking.