Health ❯Genetics

Genetic Disorders

Genetic Disorders Genetics Child Health Epidemiology Medical Research Genetics Patient Care Pregnancy Genetics Human Genetics

Discovery of DIAL Syndrome Drives Newborn Genetic Screening Initiative

Research teams are collaborating to integrate DIAPH1 into newborn genetic panels for early detection of DIAL syndrome.

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

Sperm donor’s undetected TP53 mutation linked to cancers in 10 of his 67 European offspring

European Sperm Donor with Rare TP53 Mutation Linked to 10 Cancer Cases in Children

Study Reveals Introners as Key Drivers of Genomic Complexity and Cross-Species DNA Transfer

Experimental ALS Drug Shows Unprecedented Effects in Rare Genetic Cases

Genetic Variant Near FOXP4 Found to Significantly Increase Long COVID Risk

Genetic Mutation Behind Orange Cat Fur Confirmed in Breakthrough Studies

First Personalized CRISPR Therapy Successfully Treats Infant’s Rare Genetic Disorder

UCSF Research Advances Prenatal Therapy for Spinal Muscular Atrophy

Prolonged Sitting Proven to Accelerate Cognitive Decline in Older Adults

Brazil Launches Genetic Screening Program to Combat Rare Neurological Disorder

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

Scientists Uncover Structure of Key Protein Linked to Parkinson’s Disease

Prince Frederik of Luxembourg Dies at 22 from Rare Genetic Disease

First In-Womb Treatment for Spinal Muscular Atrophy Shows Promising Results

Study Finds Genetics, Not Maternal Health, Drive Autism Risk