Tay Sachs Disease Sumati Sridhar Deepthi Rao

About Tay Sachs Causes damage in the nerve cells in brain and spinal chord. Rare Genetic defect HEXA

Cause Mutation on Chromosome 15/HEXA gene Beta-hexosaminidase Disrupts breakdown of GM2 ganglioside

Inheritance Received genetically Both parents are carriers: 25% chance of getting disease; 50% chance becoming carrier.

Signs/Symptoms Infants: slowing of development Loss of motor skills Vision/hearing loss Cherry Red-Spot

Who It Affects Rare Jews French-Canadian communities (Quebec) Amish Canjun community

Treatments No cure Controls symptoms only Medications Anticonvulsant Gene therapy

Considerations Against: Risk future children Miscarriage Deformity in fetus

Considerations For: Early Detection Check for bodily fluids Prevent further complications