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Center for the Study of Rare Genetic Diseases Opens

Center for the Study of Rare Genetic Diseases Opens

May 23, 2018

Medical Research

The first National Knowledge Center for the Study of Rare/Orphan Genetic Diseases has been established at Ben-Gurion University of the Negev, in collaboration with Soroka University Medical Center and supported by the Ministry of Science and Technology. The center’s purpose is to advance research into rare genetic diseases by putting all relevant information and resources at the fingertips of researchers.

Prof. Ohad Birk

The center was launched last week during the “Rare / Orphan Genetic Diseases—From Phenotype to Gene to Molecular Pathways” Conference at Soroka.

Six percent of the world and about 60,000 Israelis suffer from rare genetic diseases.

The new center will be led by Prof. Ohad Birk, director of the Naomi Fisher Bartnoff Genetic Counseling Unit at Soroka University Medical Center and the Morris Kahn Lab at the National Institute for Biotechnology in the Negev at BGU.

Prof. Birk’s team has discovered more than 30 genetic diseases, enabling massive carrier testing that was a major factor in a 30 percent drop in infant mortality rates in the Bedouin community. 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.

In addition to Prof. Birk, a number of leading BGU faculty members will also be part of the new center: Prof. Ruti Parvari, Prof. Dan Mishmar, Prof. Uri Abdu, Dr. Esti Yeger-Lotem, Dr. Ramon Birnbaum, and Dr. Anat Ben-Zvi. The center’s administrator will be Dr. Vered Caspi, head of the Bioinformatics Core Facility, and the chief bioinformatician, Dr. Michal Gordon.

“The purpose of the center is to collate the existing knowledge, which has accrued over decades, and offer access to all doctors and researchers in Israel to advance the decoding of more rare genetic diseases among Jewish and Arab communities throughout Israel,” Prof. Birk says.

“There are many populations in Israel who have unique diseases, whose origins have not yet been determined. Deciphering these diseases is vitally important. For example, parents of a sick child could use IVF with pre-implantation diagnosis (PGD) to ensure the disease is not present in future children.

“Our purpose is to provide access to researchers from around the country: geneticists, neurologists, pediatricians, and doctors from additional disciplines, as well as the families themselves, hospitals, government research institutes, and industry. They could all benefit from the vast knowledge that has accumulated over the years at Ben-Gurion University and Soroka,” Prof. Birk says.