Advance - "Discovery of Genetic Basis for Dystonia Brings Opportunity for Development of Diagnostic Tests, Novel Treatments"
Scientists from the Icahn School of Medicine at Mount Sinai have announced the discovery of a novel gene for primary torsion dystonia, a debilitating neurological disorder estimated to affect 300,000 people in the US and Canada. Published online in Nature Genetics, the findings describe the GNAL gene, the first primary torsion dystonia gene that directly points to pathways in the brain's dopamine system as the origin of pathophysiology. "Any new gene offers the potential to develop new therapeutics, but because GNAL belongs to a well-studied pathway, other components in this pathway may also be targets for drug development," added Tania Fuchs, PhD, instructor in the department of genetics and genomic sciences of Mount Sinai. Learn more