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Genetic Disorders

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

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

Researchers report SV2A‑mediated slowing of synaptic‑vesicle recycling diverts APP away from generating Aβ42.

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