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Genetic Disorders

Spinal Muscular Atrophy Gout Heart Conditions FLVCR1 Variants SOD1 Mutations Congenital Deafness Thrombocytopenia Smith-Lemli-Opitz Syndrome Cardiovascular Disease Down Syndrome Usher Syndrome Thalassemia and Sickle Cell Anemia Congenital Heart Disease Genetics Wiskott-Aldrich Syndrome Inherited Heart Diseases Folate Receptor 1 Gene Early-Onset Alzheimer's Leber Congenital Amaurosis Familial Hypercholesterolemia Ornithine Transcarbamylase Deficiency Hereditary Cancer Syndromes Phenotypic Defects Atopic Eczema Rare Diseases Cancer Genetics POMC/PCSK1 Variants ARSA Gene Mutations Trisomy 21 Immunodeficiency Disorders X-Linked Disorders

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

Sponsors would gain a route to approval based on plausible biology, with obligations to verify outcomes after launch.

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

AAV-OTOF Gene Therapy Restores Hearing in Teens and Adults