BEER-SHEVA, Israel (Press Release) — The first National Knowledge Center for the Study of Rare/Orphan Genetic Diseases has been established at Ben-Gurion University of the Negev (BGU), in collaboration with Soroka University Medical Center and supported by the Israel Ministry of Science and Technology. The Center will advance research in rare genetic diseases by providing researchers with resources and existing knowledge accumulated over decades.
Rare/orphan diseases affect six percent of the world’s population and as many as 60,000 Israelis.
The new Center will be led by Prof. Ohad Birk, director of the Genetics Institute at Soroka and the Morris Kahn Lab at the National Institute for Biotechnology in the Negev at BGU. The center’s administrator will be Dr. Vered Caspi, head of BGU’s Bioinformatics Core Facility, and the chief bioinformatician, Dr. Michal Gordon.
“The Center will compile decades of existing knowledge and offer access to all doctors and researchers in Israel to advance genetic disease decoding among Jewish and Arab communities throughout Israel,” Prof. Birk says. “Many people have unique diseases, whose origins have not yet been determined.”
Prof. Birk’s team has already discovered more than 30 genetic diseases and has prompted widespread major carrier testing that resulted in a 30 percent decrease in Bedouin community infant mortality rates. He has also discovered the genetic basis of several of the more common hereditary diseases in Sephardi Jews (with a similar rate of incidence to Tay-Sachs disease in Ashkenazi Jews), facilitating its prevention.
“The Center will provide access to families throughout Israel, as well as to geneticists, neurologists, pediatricians, hospitals, government research institutes, and industry,” Prof. Birk says. “They will all benefit from the vast knowledge that has accumulated at Ben-Gurion University and Soroka.”
In addition to Prof. Birk, a number of leading BGU faculty members will also be part of the Center including: Prof. Ruti Parvari and Dr. Esti Yeger-Lotem, National Institute of Biotechnology in the Negev; Prof. Dan Mishmar, Prof. Uri Abdu, Dr. Anat Ben-Zvi, and Dr. Ramon Birnbaum, BGU Department of Life Sciences.
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Preceding provided by Ben-Gurion University.