1. Tay Sachs Disease Sumati Sridhar Deepthi Rao

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

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

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

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

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

7. Treatments No cure Controls symptoms only Medications Anticonvulsant Gene therapy

8. Considerations Against: Risk future children Miscarriage Deformity in fetus

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