Human Molecular Genetics

Sabine Fuhrmann and colleagues have discovered a novel underlying cause of coloboma — a birth defect that causes missing tissue in the eye and accounts for up to 10% of childhood blindness. Read More

New findings highlight microRNAs — molecules that regulate gene expression — that are differentially expressed in glaucoma and could be candidate biomarkers or targets for therapy. Read More

Researchers at Vanderbilt University Medical Center have relieved symptoms in a mouse model of Rett syndrome with a drug-like compound that works like the dimmer switch in an electrical circuit. Read More

Insight into how the protein neurofibromin participates in the signaling pathway that produces the body’s long bones has implications for fracture healing in some patients. Read More

Images of individuals with Alagille syndrome (National Institutes of Health) Mutations in the Jagged1 gene cause Alagille syndrome, an inherited disorder that affects the liver, heart, kidneys and facial structure. Patients with Alagille syndrome often have a prominent forehead, a flattened midface and a prominent chin; some have a cleft… Read More