BSH 2018 | Linking Gaucher disease with Parkinson’s disease

Name: Linking Gaucher disease with Parkinson’s disease
Uploaded: 2018-04-14T00:00:00.000Z
Duration: 1 min 50 s

Derralyn Hughes • 14 Apr 2018

BSH 2018

General

Gaucher disease (GD) is a rare genetic disorder which is seldom diagnosed because of its rarity, although diagnoses can be achieved easily with enzyme or bone marrow testing, as well as genetic tests. Genetic testing of GD has shown surprising links to other diseases, including Parkinson’s disease and multiple myeloma, as Derralyn Hughes, MA, DPhil, FRCP, FRCPath, of the Royal Free London NHS Foundation Trust, London, UK, explains here. This link has opened doors for new research to explore whether glucosylceramide, the substance which builds up in the organs in GD, can be manipulated to alleviate Parkinson’s symptoms. This video was recorded at the British Society for Hematology (BSH) 2018 Annual Scientific Meeting, in Liverpool, UK.