Health ❯ Healthcare ❯ Genetics

Genetic Disorders

Spinal Muscular Atrophy Rare Diseases Gout Bardet-Biedl Syndrome Heart Conditions Adrenoleukodystrophy (ALD) SOD1 Mutations FLVCR1 Variants Congenital Deafness Marfan Syndrome

Engineered Suppressor tRNAs Delivered by Inhaled Nanoparticles Restore CFTR Function in Preclinical Models

Researchers say the reversible RNA-level strategy could restore full-length proteins via inhaled delivery to treat lung diseases.

FDA Places Clinical Hold on REGENXBIO's RGX‑121 After Spine MRI Findings

11-Year-Old Becomes First UK Patient to Receive BBS10 Gene Therapy

Oxford and Moderna Set to Launch Phase‑1 Trial of Preventive mRNA Vaccine for Lynch Syndrome

Brazil Expands Newborn Heel‑Prick Program but Access Remains Uneven

Barcelona Team Performs First In‑Utero Repair of Severe Gastroschisis in Europe

Brazil Treats First Infant in In‑Country Gene Therapy Trial for Severe Spinal Muscular Atrophy

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

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

Study Reveals How Dialysis-Linked Kidney Cancers Develop, Marking a Distinct Disease Pathway

Dual-Vector Gene Therapy Restores Sight in Usher Syndrome Patient; Trial Advances to Higher Doses

AAV-OTOF Gene Therapy Restores Hearing in Teens and Adults

Prenatal Trisomy Screening Rates Surge Across German States

Madrid Detects First SCID Case Through Neonatal Screening Program

Eli Lilly’s Lepodisiran Achieves 94% Reduction in Genetic Heart Disease Risk Factor in Phase 2 Trial

Study Suggests Long-Term Anti-Amyloid Therapy May Delay Early-Onset Alzheimer’s

Gene Therapy Restores Sight in Children Born Blind Due to Rare Eye Disorder

IVF Linked to Slightly Higher Risk of Major Heart Defects in Babies