Health ❯ Genetic Disorders

Rare Diseases

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

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

She says going public is meant to connect families facing rare disease.

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