Health ❯ Healthcare ❯ Medical Conditions

Genetic Disorders

Familial Insomnia Hemophilia Anemia Alpha-1 Antitrypsin Deficiency Heart Defects Muscle and Bone Development Disorders Methylmalonic Acidemia Hereditary Angioedema Severe Combined Immunodeficiency (SCID) Recessive Dystrophic Epidermolysis Bullosa (RDEB)

Government to Debate Adding SMA to Newborn Screening as NHS Pilot Moved Forward

The change aims to speed diagnosis so infants with severe Type 1 SMA can get treatment earlier.

Sanofi’s Efdoralprin Alfa Beats Standard Therapy in Phase 2 AATD Trial

Wales Mother Finds Partner Dead Days Before Twins’ First Birthday

NEJM Study Finds 95% Long-Term Success for ADA-SCID Gene Therapy

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

FDA Approves Ionis’ Dawnzera to Prevent Hereditary Angioedema Attacks

Umbilical-Cord-Derived Cell Therapy Reduces Disease Activity in Children With Rare Skin Disorder

Presymptomatic Risdiplam Treatment Boosts Motor Milestones in Newborns, Secures FDA Label Extension

20-Year-Old Woman Dies After Hours on Gurney at Overwhelmed French Hospital