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Gaucher Disease as a Top Model for Rare Diseases
Family Medicine
January 11,2021 - 20:00 - 21:00
Topic Description :
Gaucher Disease as a Top Model for Rare Diseases
Learning Objectives:
- Recognize the clinical features of and making the diagnosis of GD
- Review current and new therapies for Gaucher disease including gene therapy
- Learn about potential comorbidities in Gaucher disease particularly Parkinson disease
- Identify current challenges related to newborn screening, high cost of treatment, and access to expensive therapies in under-developed countries.
Speaker :
Prof. Ari Zimran
Founder and Director of the Gaucher Unit at Shaare Zedek Medical Center in Jerusalem from 1990 to 2018, and is currently a senior physician in the Unit.
About the Speaker
Professor Ari Zimran was the founder and director of the Gaucher Unit at Shaare Zedek Medical Center in Jerusalem from 1990 to 2018, and is currently a senior physician in the Unit. This is the world’s largest referral centre for Gaucher Disease (GD), having monitored more than 850 patients to date, and currently treating about 350 patients with enzyme replacement therapy.
Professor Zimran developed his interest in GD during his fellowship at the Scripps Research institute, Department of Molecular and Experimental Medicine in La Jolla, California under the mentorship of Professor Ernest Beutler.
Professor Zimran has published over 320 professional papers and reviews and has edited three books, and has been a leader in clinical trials for new treatments for GD, including Cerezyme™, Zavesca™, VPRIV™, Elelyso™, Cerdelga™ and Ambroxol. His most recent research focuses include the relationship between Gaucher disease and Parkinson, the development of oral enzyme replacement therapy, and gene therapy.
