Neurodevelopmental, neurodegenerative and neuromuscular disorders associated with defective autophagy

12.30pm on Tuesday 18th June 2013.

Seminar series of the MRC for Neuromuscular Diseases: Dubowitz Neuromuscular Centre.

Speaker: Heinz Jungbluth, MD PhD. Senior Lecturer & Consultant in Paediatric Neurology, Guy’s & St Thomas' NHS Foundation Trust, London; King’s College, London

Venue: Leolin Price Lecture Theatre, Institute of Child Health, 30 Guilford St, London, WC1N 1EH

ALL WELCOME

The speaker will be pleased to talk to colleagues after the talk. To arrange a meeting please contact jane.miller@ucl.ac.uk

Abstract:

Autophagy is an evolutionarily highly conserved lysosomal degradation pathway with fundamental roles in cellular homeostasis. We have recently identified recessive mutations in the key autophagy regulator EPG5 as the cause of Vici syndrome, a multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. These findings indicate Vici syndrome as a paradigm of a multisystem disorder due to defective autophagy. Clinical, histopathological and genetic findings suggest a link with other neurodevelopmental, neurodegenerative and neuromuscular disorders.