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 of the relevant information and resources at researchers' fingertips.
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 BGU's Prof. Ohad Birk, head of the Morris Kahn Human Genetics Laboratory and the Genetics Institute at Soroka. Prof. Birk's team has discovered more than 30 genetic diseases, enabling massive carrier testing that was a major factor in a 30% 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 in Ashkenazi Jews), facilitating their prevention.
In addition to 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 unit, and the chief bioinformatician will be Dr. Michal Gordon.
Prof. Ohad Birk commented, “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.
“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) for future children to ensure the disease is not present. 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," he explained.
