Health ❯ Genetic Disorders

Rare Diseases

CPS1 Deficiency Leigh Syndrome Angelman Syndrome Urea Cycle Disorders Gene Therapy McCune-Albright Syndrome Syndrome of Rett Alpha-1 Antitrypsin Deficiency Telomere-Related Diseases SYNGAP1 Blood Group Antigens Tango 2 Metabolic Disorders Research Funding Barth Syndrome Duchenne Muscular Dystrophy Prader-Willi Syndrome Charcot-Marie-Tooth Disease Werner Syndrome SynGAP1

Human Neuron Study Links Early Synapse Overactivity to Sanfilippo Dementia

The finding opens a route to test existing medicines in patient-derived brain cell models.

Becky Quick Reveals Daughter’s SYNGAP1 Diagnosis as CNBC Launches Rare-Disease Initiative

Regeneron, Tessera Strike $150 Million Gene-Editing Pact for Alpha‑1 Antitrypsin Deficiency

FDA Grants Accelerated Approval to Forzinity, First Therapy for Barth Syndrome

Nature Study Reveals How RAP1 Blocks DNA-PK to Safeguard Telomeres

Nicotinamide Riboside Improves Cardiovascular, Skin and Kidney Health in Werner Syndrome

Personalized CRISPR Therapy Sends Baby KJ Home from CHOP