The Gaucher Clinic in Shaare Zedek is the first national referral out-patient clinic for patients with Gaucher disease. Being the most common inherited disorder affecting Ashkenazi Jews, Gaucher disease is especially prevalent in Israel, but being a rather rare disease, many patients are often treated by physicians of various disciplines who were not familiar with all the nuances of Gaucher disease manifestations and treatments. Patients with Gaucher disease come to the clinic for complete baseline evaluation, for follow-up examinations, for consultations regarding specific conditions such as army service, pregnancy etc, and for treatment. In the clinic there are senior specialists in all the relevant fields of medicine, including pediatricians, surgeons, orthopedists, gynecologists, pulmonologist, hematologist, radiologist, and both pediatric and adult neurologists. Currently, there are over 600 patients being monitored in the clinic
Research Activities include:
Natural history, molecular genetics and immunology, population epidemiology, clinical manifestations, and enzyme replacement and other therapies in patients with Gaucher disease. Characterizing the genotype/phenotype correlation in Gaucher disease. The natural history of pregnancies in women with Gaucher disease. The use of anesthesia in patients with Gaucher disease. The potential role of inflammatory components. New biochemical assay for Gaucher disease using fluorescent flow cytometry, surrogate marker, chitotriosidase and the new marker of bone metabolism, osteoprotegerin. A series of studies using ozone therapy for various medical indications, such as ischemic stroke, peripheral vascular disease, leg ulcers, burns etc. The impact of expensive therapies on national health budgets.