Finding the Needle in the Haystack
Dr. Ohad Birk, left, with Bedouin physician Dr. Dr. Khalil Elbedour and Bedouin children (photo by Dani Machlis)
Dr. Ohad Birk, head of the Genetics Institute at Soroka Medical Center and The Morris Kahn Lab of Human Genetics at Ben-Gurion University of the Negev, is a connector. Though he may not technically fit Malcolm Gladwell’s pop-culture definition of the term, he has still played the pivotal role in bringing key people together to solve a difficult genetics puzzle. Through the right collaborations with patients and scientists, he has been able to better understand the causes of and work toward the cure for a devastating disease found among Jews of Iraqi and Moroccan descent.
Progressive Cerebro-Cerebellar Atrophy (PCCA) is a disease characterized by the progressive wasting away of cells throughout the brain, causing psychomotor retardation which is severe by 1 to 2 years of age. Children with the disease appear normal at birth, but soon develop spasticity (stiffness of the body, especially in the arms and legs), and most of them also have epilepsy. Individuals with PCCA can live up to two decades.
Birk has done a great deal of genetic disease research among the populations found in the southern part of Israel, especially the Bedouin who have a 60 to 65 percent rate of endogamy (marriage within a tribe or among cousins). He and his team at BGU have identified the genetic basis for 15 different diseases found mostly among the Bedouin, which has led to the Israeli government’s provision of free carrier testing to this population.
The doctor recently told journalists visiting BGU from the United States that four years ago he began a study among the mostly non-Ashkenazi Jewish population of the Negev region, when children from Moroccan and Iraqi families were presenting with PCCA.