Most may have heard of Tay-Sachs, Canavan, Fanconi anemia, Niemann-Pick or Gaucher disease. These devastating disorders tend to afflict those in the Ashkenazi community (Jews of European descent) and have been well-researched. The genetics of Sephardic Jews are a bit more complicated, as this population tends to be slightly more diverse. This doesn’t mean, of course, that this population is immune to genetic diseases. This community, which accounts for about 1.4 million of Israel’s 7.9 million residents or a bit over 15 percent, and the genetic disabilities that tend to afflict it are the specific targets of the well-decorated laboratory at Ben Gurion University in Israel’s south. These discoveries improve the lives of countless individuals, but the importance is also seen at home. Neglected for so long, research into the diseases that afflict Jews of Arab or Sephardic descent (those who descend from Middle East ancestry and lived in southern Spain until the Spanish Inquisition) has been at the center of Professor Ohad Birk’s lab.
In March of this year, researchers at BGU found the cause of a severe genetic defect that afflicts a number of Moroccan Jews. PCCA 2 (Progressive Cerebello-Cerebral Atrophy Type 2) is a hereditary disease carried by one out of every 37 Moroccan Jews. Children with the disease appear healthy at birth and develop normally until about six months of age. They begin to rapidly deteriorate soon after, experiencing brain atrophy, severe retardation, and epilepsy by their first birthdays. The research team, led by Birk, found that the disease is caused by a pair of mutations that affect a gene which causes the accumulation of excess “junk” within the cells, making the disease detectable in parents and also in the fetus.
This is just the most recent discovery in Birk’s lab. The professor, who serves as head of BGU’s Morris Kahn Lab, has led research that has been instrumental in the discovery of more than 20 genetic diseases common in Jews of Arab and Sephardic descent. In a press release, Birk explained the impetus of his work: “There was an idea that Ashkenazi Jews have more disease than others, but when one begins looking at Sephardic Jewish diseases, they are there,” Birk said. “They have just not been sorted out. Because they have not been sorted out, there was no carrier testing, no prevention programs or anything. I have shifted part of my lab into Jewish non-Ashkenazi — or Sephardic Jewish — diseases.”
Past discoveries have included the gene mutation that causes PCCA, a similar mutation which is carried by one in 40 Jews of Sephardic or Iraqi descent, and another mutation which results in severe mental retardation and epilepsy associated with the production of an amino acid. The ability to detect these conditions has led to the availability of dozens of routine genetic carrier tests.
Israel is well-known for its innovative, inquisitive spirit. This year, Bloomberg Rankings put the Start-Up Nation at #1 globally in the Research and Development category, which analyzes R&D as a percentage of a nation’s GDP. Birk’s lab is just one example of the impressive work Israeli scientists contribute. From cancer research to genetics to biotechnology, Israeli researchers are making meaningful, actionable discoveries.
Merav Ceren is a contributing writer to JLife magazine.