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Genetic Disorders

Autism Genetics Huntington's Disease Leigh Syndrome Eczema Familial IBD Genetics APOE4 Gene Variant Kaposiform Lymphangiomatosis DFNB9 Deafness Mendelian Inheritance Treacher Collins Syndrome

BioMarin Says Voxzogo Raised Growth Rates in Children With Hypochondroplasia

The company plans a supplemental U.S. filing in Q3 2026 to seek approval for a disease that currently has no approved drug.

Case Western Study Links Inherited VSIG10L Mutations to Barrett’s Esophagus, Debuts Genetics-Based Mouse Model

World-First Gene Therapy for Hunter Syndrome Shows Early Gains in First Child

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

Study of 16p12.1 Families in Cell Shows Secondary Variants Shape Disease

Kidney Organoids Tie APOL1 Risk Variants to Mitochondrial Failure in Podocytes

Gene Therapy Reports 75% Slower Huntington’s Progression in 36-Month Early Trial

White Red Fox With Blue Eyes Identified as Leucistic in Munich County

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

New Autism Framework Defines Four Genetic and Behavioral Subtypes

AAV-OTOF Gene Therapy Restores Hearing in Teens and Adults

New AI Model Maps Gene Combinations Driving Complex Diseases

Study Reveals Subtle Health and Cognitive Disadvantages in Carriers of Recessive Gene Mutations

Global Pea Genomic Map Unlocks Mendel's Last Mysteries and Advances Crop Science

New Genetic Pathway Links Autism and Myotonic Dystrophy in Breakthrough Study

Ancient Skull Once Attributed to Cleopatra’s Sister Identified as Young Boy

Scientists Discover DNA-Twisting Role of Chromosome-Looping Proteins

Oxford Researchers Develop Vaccine for Cancer-Linked Genetic Disorder

Utah Jazz GM Justin Zanik to Receive Kidney Transplant from Good Samaritan

Alzheimer's Disease Found Transmissible Through Bone Marrow Transplants in Mice