The Hunt for Huntington's
4 days ago
- #medical breakthroughs
- #Huntington's disease
- #genetic research
- In 1968, Milton Wexler informed his daughters, Alice and Nancy, about their 50% chance of inheriting Huntington's disease, a fatal neurological disorder that had already affected their mother, Leonore, and her family.
- Nancy Wexler shifted her focus from clinical psychology to hunting for a cure, founding the Hereditary Disease Foundation (HDF) and organizing multidisciplinary workshops to accelerate research.
- A breakthrough came in 1983 when researchers, using blood samples from a large Venezuelan family affected by Huntington's, identified a genetic marker (G-8) linked to the disease on chromosome 4.
- The discovery of the huntingtin gene (HTT) in 1993 revealed that Huntington's is caused by an abnormal expansion of CAG repeats, leading to protein misfolding and neuronal damage.
- Nancy Wexler, despite her lifelong dedication to finding a cure, eventually developed Huntington's disease, but her work laid the foundation for future treatments and genetic testing.