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 Parkinsons 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 Parkinsons symptoms. This video was recorded at the British Society for Hematology (BSH) 2018 Annual Scientific Meeting, in Liverpool, UK.
