Israel's Leadership in Gaucher Disease: Shaare Zedek's Medical Breakthroughs
Israel holds one of the world's highest rates of Gaucher disease, with Shaare Zedek Medical Center treating hundreds of patients while advancing global research, diagnostics, and innovative therapies.
Israel has one of the highest prevalence rates of Gaucher disease in the world, primarily due to its high frequency among Jews of Ashkenazi descent, where one in 17 individuals is a carrier. A defect in the enzyme beta-glucocerebrosidase causes a fatty-sugar substance to accumulate within body cells, particularly immune cells. This accumulation leads to enlarged spleens and livers, decreased blood counts, anemia, fatigue, and bone disease. Because these symptoms are not unique to Gaucher disease, obtaining a correct diagnosis often takes years. Approximately one in every 800 Ashkenazi newborns is expected to be born with the condition. While France has only about 400 known patients, Israel has roughly 1,000 recorded patients, with 900 monitored and treated at the Gaucher Unit at Shaare Zedek Medical Center.
Decades of Medical Breakthroughs
The Shaare Zedek Gaucher Unit was established by Prof. Ari Zimran in 1990 when knowledge about the condition was extremely limited. According to Prof. Zimran, two significant medical developments transformed the entire field. The first is PCR technology, which allows for the precise identification of the genetic defect causing the disease. Over 860 different variants have been identified to date, explaining why disease severity varies so drastically among patients. The second milestone was the introduction of the first enzyme replacement therapy, approved in 1991, which revolutionized the natural course and clinical manifestations of the disease. Prof. Zimran noted, "In the past, the only treatment was surgical—splenectomy. This improved blood counts and removed the massive belly caused by an enlarged spleen, but the disease continued to damage organs." The combination of molecular diagnostics and enzyme therapy has provided accurate diagnoses and effective treatments, eliminating the need for invasive procedures.
Research and Global Leadership
The concentration of hundreds of patients at Shaare Zedek has enabled the unit to uncover critical links between Gaucher disease and other medical conditions. One significant contribution is understanding the connection between Gaucher disease and Parkinson's disease, as patients and carriers face an elevated risk. The unit has also researched links to multiple myeloma. Furthermore, the team discovered that some patients experience reduced platelet function beyond blood cell destruction, changing medical protocols so that platelet function is now tested prior to any surgery. The team also contributed to discovering a new variant affecting heart valves among the Palestinian population in the West Bank, potentially aiding research into heart calcification processes in the general elderly population.
Diagnosis, Awareness, and Future Treatments
Diagnosis is relatively straightforward, relying on a blood test measuring the lyzoGb1 biomarker alongside genetic testing, avoiding invasive procedures. Since November 2025, Gaucher carrier screening has been offered to all women as part of prenatal testing in Israel. The primary treatment remains enzyme replacement therapy, administered bi-weekly, often at home in Israel. Oral treatments are also available, while advanced therapies utilize genetically engineered human cells to produce human enzymes that penetrate cells more effectively. The most cutting-edge horizon is gene therapy. Prof. Zimran explained, "If we can, through a single treatment, infuse a harmless virus into the patient's blood that settles in liver cells and contains the correct human gene, the patient's liver will begin producing normal enzymes on its own." While still in the research phase, this approach represents a potential future cure.
