Headed by Prof. Ohad Birk, brings together basic scientific research and effective translational clinical applications.
Different segments of society face unique medical concerns. Genetic diseases are one of the most striking examples of this. Ashkenazi Jews and the Bedouin community, for example, suffer disproportionately from very specific hereditary diseases. The Genetics Institute is tackling these often life-threatening challenges head-on. Using best practice techniques in carrier testing, clinical and prenatal diagnosis, and genetic counseling, Soroka is making the Negev a healthier place to live for people from every walk of life.
While most hereditary diseases prevalent in Ashkenazi Jews have been identified, routinely tested for and thus prevented, genetic diseases affecting Sephardi Jews have mostly been awaiting discovery. Professor Ohad Birk, through meticulous research, has identified over the past decade the genetic cause of two of the severe hereditary diseases that are most prevalent in Sephardi Jews: Progressive Cerebello Cerebral Atrophy types I and II (PCCA and PCCA2). In both diseases, children are born seemingly completely fine, yet during the first year of life deteriorate, so that by two years they are in a practically vegetative state, with severe epilepsy and increased muscle tone, and very minimal - if any – connection with their surroundings.
One of every 40 Moroccan Jews is a carrier of PCCA, as is one of every 40 Iraqi Jews. A similar clinical disease – PCCA2, caused by mutations in a totally different gene, also discovered by Birk, is as prevalent – one of every 40 Moroccan Jews is a carrier. Together, the incidence of these two diseases in Sephardi Jews is similar to that of Tay Sachs and Familial Dysautonomia in Ashkenazi Jews. In line with that, through Birk’s initiative, carrier tests are now offered freely (government financed) in Israel and routinely for Sephardi Jews worldwide. Thus, both diseases are en-route to being practically eradicated.
“Birk has discovered some of the first severe hereditary diseases in other Jewish communities – from Indian Jews to Ethiopian Jews, with ongoing studies also in Jews of Iranian ancestry.”