International Rare Disease Day: Studying rare diseases at the BCDD
The majority of rare diseases are genetic origin and mainly affect children. The BCDD has placed the research in rare diseases as one of the center's main areas of interest
The international Rare Disease Day takes place on the last day of February each year. The purpose of this day is to raise awareness and generate action among the general public and decision-makers regarding rare diseases and their impact on patients’ lives and their families.
The majority of rare diseases are genetic origin and mainly affect children. While the incidence of each condition by itself is low (an incidence of 1:100,00- 1:1,000,000 people in the general population), there are thousands of such diseases; their accumulating prevalence is very significant. The number of rare diseases is estimated to be between 6000-7000 different diseases, and they affect 6-8% of the world's population. Today, the number of patients with rare diseases is estimated to be 25-30 million in Europe and a similar number of patients in North America.
The BLAVATNIK CENTER for Drug Discovery (BCDD), a Tel Aviv University multidisciplinary research center, has placed the research in rare diseases as one of the center's main areas of interest. Over the past four years since its inauguration, the BCDD gained extensive experience in this field. The BCDD research staff has designed a platform for screening FDA approves drug libraries using patient-specific mutation models. The goal for such a screening campaign is to find a compassionate medicine, a drug approved for a different medical indication, that will be subscribed to a patient suffering from a serious illness when no treatment is available.
Exploring new disease models
A first study describing the platform mentioned above was recently published at the British Journal of Dermatology. The publication describes a BCDD collaboration project with Prof. Eli Sprecher, director of the Department of Dermatology at Tel Aviv Sourasky Medical Center. The study was dealing with a rare skin disease called Hypotrichosis Simplex of the Scalp (HSS), which affects several dozen patients in Israel.
The BLAVATNIK CENTER for Drug Discovery screened thousands of drugs against a unique model developed for the disease. One of the drugs, the known antibiotic gentamicin, showed to be active at in-vitro models. The antibiotic was also tested in a clinical trial on several patients and showed a significant improvement in their condition.
The capabilities of the BLAVATNIK CENTER for Drug Discovery to design and screen rare disease models have spread among local and international patient organizations. Recently, some international partners have approached the BCDD to establish collaborations to explore new disease models. The BCDD is currently involved in ten different rare disease projects in collaboration with researchers from TAU and its affiliated hospitals.