Date: Thursday, November 12, at 4 p.m.
From Rare to Common: Translational Advances in Neurodegeneration
Professor Frances M. Platt is Professor of Biochemistry and Pharmacology and and Head of the Department of Pharmacology at the University of Oxford, UK.
Lysosomal storage diseases (LSDs) comprise more than 70 rare inherited metabolic disorders, the majority of which have a neurodegenerative clinical course. Increasingly, genetic and mechanistic links between LSDs and more common neurodegenerative disorders, particularly Parkinson’s disease (PD), are revealing how insights from rare diseases can inform our understanding and treatment of common disorders.
The therapeutic landscape for LSDs has advanced considerably, with multiple enzyme replacement therapies approved. However, these biologics do not cross the blood–brain barrier and are disease-specific. Small-molecule therapies offer a complementary approach. Several drugs have received regulatory approval for LSDs, including agents that penetrate the CNS.
In this presentation, I will focus on Niemann–Pick disease type C (NPC), a neurodegenerative lysosomal storage disorder (LSD) whose complex pathogenic cascade is yielding fundamental insights into cell biology and mechanisms of neurodegeneration. Remarkably, NPC now has three approved CNS-penetrant small-molecule therapies, including two recently approved by the FDA.
I will discuss how discoveries in NPC may extend well beyond this rare disorder. Unexpected convergence in downstream pathogenic pathways between NPC and other rare and common neurodegenerative diseases suggests new therapeutic opportunities—particularly because one of the approved NPC drugs uniquely targets these shared mechanisms.
Venue: Wallenbergsalen, Nobel Forum, Karolinska Institutet, Nobels väg 1
Host: Gunilla Karlsson Hedestam PhD, Professor of Vaccine Immunity, Karolinska Institutet
Contact: Pernilla Witte, Nobel Office, nobelforum@nobelprizemedicine.org