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Genetic Disorders

Spinal Muscular Atrophy Gout Thrombocytopenia FLVCR1 Variants SOD1 Mutations Congenital Deafness Heart Conditions Smith-Lemli-Opitz Syndrome Cardiovascular Disease Immunodeficiency Disorders

Brazil Treats First Infant in In‑Country Gene Therapy Trial for Severe Spinal Muscular Atrophy

The program couples clinical testing with technology transfer to position a lower‑cost therapy for potential SUS adoption.

FDA Proposes ‘Plausible Mechanism’ Pathway for Individualized Rare-Disease Therapies

Anti-Seizure Drug Levetiracetam Blocks Early Alzheimer’s Protein Production, Study Finds

Rapid Zebrafish Test Classifies Newborn SMN1 Variants in Days

FDA Approves Novartis’ Itvisma for SMA Patients Ages 2 and Up

Study Reveals How Dialysis-Linked Kidney Cancers Develop, Marking a Distinct Disease Pathway

Dual-Vector Gene Therapy Restores Sight in Usher Syndrome Patient; Trial Advances to Higher Doses

AAV-OTOF Gene Therapy Restores Hearing in Teens and Adults

Prenatal Trisomy Screening Rates Surge Across German States

Madrid Detects First SCID Case Through Neonatal Screening Program

Eli Lilly’s Lepodisiran Achieves 94% Reduction in Genetic Heart Disease Risk Factor in Phase 2 Trial

Study Suggests Long-Term Anti-Amyloid Therapy May Delay Early-Onset Alzheimer’s

Gene Therapy Restores Sight in Children Born Blind Due to Rare Eye Disorder

IVF Linked to Slightly Higher Risk of Major Heart Defects in Babies