Prof. Ari Zimran

Prof. Shoshana Revel-Vilk

The Gaucher unit at Shaare Zedek Medical Center is the home to our Gaucher patients. Thanks to the multidimensional team approach, our patients have the advantage of getting both follow up treatments and the services needed per individual’s case under one roof:


1. A unique Gaucher clinic for both children and adults 

2. On top of the specialist's examination; the visit to our unit includes the following services:

Routine complete blood count (CBC)

Monitor biomarkers that can indicate the Gaucher cells burden

Ultrasound imaging


Bone mineral density screening *

MRI (magnetic resonance imaging) *

Consultation with Gaucher-experts from Obstetrics and Gynecology, Neurology, Cardiology, Orthopedic, Genetic, etc., as needed

Evaluation of the coagulation system prior to invasive procedures/ surgeries/ deliveries 

Social support network


*Requires additional insurance approval

3. Gaucher diagnostic tests and Genetic counseling


The Gaucher patients come to our clinic for a comprehensive basic assessment, follow-up examinations, for advice on special situations such as military service, pregnancy and much more, and evidently for receiving consult and recommendations on the specific treatment for the disease.

The Gaucher Unit in Shaare Zedek Medical Center was founded in 1989 by Prof. Ari Zimran. It is the leading outpatient clinic for Gaucher disease in Israel and is currently an independent unit in the hospital and operates alongside the Division of Internal Medicine and the Division of Pediatrics (Wilf Children's Hospital). Our unit has research correlations at both the Hebrew University and other research centers in Israel and worldwide. Prof. Zimran is an Associate Professor at the Hadassah School of Medicine, Hebrew University of Jerusalem; a specialist in internal medicine. 

In September 2017, Prof. Shoshana (Shoshi) Revel-Vilk joined the division. Prof. Revel-Vilk is also an Associate Professor at the Hadassah School of Medicine, Hebrew University of Jerusalem; a pediatric hematology / oncology specialist along with a specific specialization in blood coagulation.  

The Gaucher Clinic employs senior specialists from all relevant medical fields, including: surgeons, orthopedics, gynecologists, pulmonary doctors, endocrinologists, hematologists, radiologists, and expert neurologists both in children and adults. The specialists are available for counseling to all patients at different time points throughout the ongoing follow-up arrangements. 

As our clinic is the largest of its kind in the world, with a history of more than 850 adult and pediatric Gaucher patients for the past thirty years. Each of these specialists have gained significant experience in the phenomena of Gaucher disease in their own field of expertise, which contributes to the improvement of our patient's health. It is important that Gaucher patients be monitored by a dedicated clinic with extensive experience in treating this disease. The recommended follow-up is usually once every six – once a year (depending on clinical status).


Philip Gaucher (1854-1918),was the first to describe Gaucher disease in 1882. It took additional 50 years to discover the cause of the disease; accumulation of glucocerebroside (glycolipid) in the macrophages in the spleen, liver, kidneys, bone marrow, and even in rare cases in the brain (type 2 and 3). The accumulation of Gaucher cells in macrophages results in enlargement of the spleen, liver, decreased blood count (mainly decreased platelet count and hemoglobin (thrombocytopenia  and anemia, respectively), as well as bone morbidity causing bone pain, risk for fractures, osteopenia and osteoporosis. The severity of the disease manifestations differs between patients, hence a tailored approach is essential to the monitoring and the treatment of each patient.

Type 1 Gaucher disease is relatively common among Ashkenazi Jews where one in 17 is a carrier of the defective copy of the Glucocerebrosidase (GBA) gene, and one in 850 will be affected type 1 Gaucher disease. The incidence of the disease in other populations is about 1: 50,000.

In 1991 the first breakthrough for a Gaucher patient commenced, revolutionizing patient treatment. The foundation of treatment was based on the success of the researchers at the National Institutes of Health (NIH) to produce the deficient enzyme from women’s placenta. At the time, it required 22,000 placentas to produce the amount of enzyme needed to treat one patient for one year. This was then considered the most expensive drug in the world having the highest price for manufacture. Later, the enzyme was genetically engineered, a recombinant enzyme called Imiglucerase which was marketed in 1994. To this day it is considered the best-selling enzyme in the world; however, the cost of the treatment did not change despite the reduction in production expenses.

The enzyme administered through an IV infusion (enzyme replacement therapy, ERT) once every two weeks, was able to greatly improve the symptoms of the disease. Reducing the size of the liver and the spleen, raising the level of hemoglobin and platelets, reducing the risk of bleeding and preventing bone disease. Moreover, in children, the treatment allowed normal growth while in the past many children faced short growth problems. Due to the high cost of the drug, an alteration was demanded after a while. Questions were raised as to what the criteria for the treatment ? and what dosage was needed? Should all patients receive the high dosage prescribed in the clinical trials for drug approval? or is it sufficient to administer a low dose of the enzyme to some patients to prevent / eliminate the accumulation of glucocerebroside?

The drug's exclusivity expired in 2000. At that time, a drug that prevents the formation of glucocerebroside (substrate reducation therapy) called Miglustat was developed. This drug was given orally, 3 times a day. Currently, if is not included in the drug-basket in Israel due to the reduction in its efficiency and multiple side effects. Similarly, it has a low demand in the market worldwide. 

In 2010 and 2012 two more ERT drugs introduced Velaglucerase and Taliglucerase, respectively. Currently, all three ERTs are available and used for treatment of patients in Israel. Eliglustat, an oral SRT, is approved and included in the Israeli drug-basket for first line therapy for adults patients with type 1 Gaucher disease. 

The ability to offer our patients a number of different options is a big advantage; however it also comes at a great price. In today's consumer world, a multitude of choices makes it difficult to make a decision without having it affect our confidence in those varieties. Raising the following questions; what happens when there are many therapeutic options? Who really decides which is the best option, is it the doctor? or the patient?  What is the possible influence of the pharmaceutical companies in choosing the right drug? What weight does the insurance company (Kupat Cholim) have in deciding on the type of the treatment?

In light of these deliberations, we have published a scientific paper with an overview article in which we present the treatment of the Gaucher in a world where there are several options. In this article, we propose an algorithm for treating an adult or child diagnosed with Gaucher disease (here is a link to the article's PDF). In addition, the article describes the relationship between Gaucher and Parkinson's, the unresolved questions about the carrier surveys, neonatal surveys, and the development of other forms of therapy. They include drugs aimed at stabilizing the enzyme called chemical chaperone, as well as gene therapy, as a new target for research and treatment.

The Gaucher unit is very active in research (link) and is one of the world's leading research centers in all aspects of Gaucher disease. Following is the list of studies currently active in the Gaucher unit: 


1. A study to identify Parkinson's early prodromal markers for Gaucher carriers, with an intention for future Gaucher carriers having prominent clinical trial findings aimed at preventing  the Parkinson's disease. 

2. Effectiveness and safety of Ambroxol as a treatment for Gaucher patients - as an enzyme supplement or as a single drug.

 3. Rapid infusion of velaglucerase -  10 minutes instead of one hour.

 4. Developing an algorithm for diagnosing Gaucher using artificial intelligence methods

 5. Gaucher disease specific digital medicine 

We are also preparing to participate in clinical trials for gene therapy and other trials that only aim to improve the quality of life and health of the patient.

For further inquiries, appointments and other information regarding the clinical and research activities of the Gaucher department, please contact us by fax, telephone or email.