A Patient-Scientist’s Road Toward Primary Prevention in Genetic Prion Disease
In 2010, Vallabh watched her 52-year-old mother die of a rapid, mysterious, undiagnosed neurodegenerative disease. One year later, she learned that her mother had died of genetic prion disease and that she herself had inherited the causal mutation, making it very likely she would suffer the same fate, as there is no treatment or cure available. Despite having no prior training in biology, Vallabh (a lawyer) and her husband, Eric Minikel (an urban planner), set out together to retrain as biomedical scientists and devote their lives to finding a treatment.
Prion disease is a rare, exceptionally rapid neurodegenerative disease. The average patient dies within only six months of their first symptom. There is no treatment that can prevent or slow this catastrophic decline. But in the lab, prion disease is among the most tractable brain diseases: It can be faithfully modeled in animals; it is caused by a single protein; and there are excellent proofs of concept that lowering the amount of that protein should protect against disease. Therapeutic modalities such as antisense oligonucleotides (ASOs) are showing great promise for modulating levels of a single disease-causing protein in the brain and may offer the prospect of a genetically targeted therapy for prion disease. The key challenge will be conducting meaningful trials in a disease that moves so rapidly once it strikes. This lecture will share the work and perspective of two patient-scientists who are striving to reorient prion disease drug development — and the larger conversation about neurodegenerative disease — around preventing disease in the first place and keeping healthy brains healthy.
The page was last updated on Tuesday, March 31, 2020 - 3:45pm