Consortium to Genetically Screen All Israelis with Inherited Retinal Diseases

February 06, 2014

The Foundation Fighting Blindness is providing $600,000 to a consortium of Israeli scientists working toward the ambitious goal of recruiting and genetically screening every person in Israel with an inherited retinal degenerative disease. By understanding the genetic cause of disease in an estimated 5,000 affected Israelis — including Bedouins, Arab Muslims, Arab Christians and people from various Jewish ethnic groups — the researchers will be in a better position to diagnose and counsel patients, recruit participants for clinical trials and identify new retinal-disease genes and targets for treatments.

“Israel has emerged as an outstanding player in genetic research for retinal diseases,” says Stephen Rose, Ph.D., chief research officer, Foundation Fighting Blindness. “While researchers around the world have identified more than 200 genes linked to retinal diseases, there are perhaps dozens yet to be discovered. The Israeli consortium provides us with favorable demographics and strong expertise to find many more.”

“The structure of the Israeli population makes it an excellent resource for our genetic research,” says Ido Perlman, Ph.D., the consortium’s director and a professor of physiology and biophysics at Technion, the Israel Institute of Technology. “It’s in a relatively small geographic region, it’s diverse, and many of its families are large and have common ancestors and intra-community marriages, which lead to a high prevalence of autosomal recessive disease.”

The success of the study will not only benefit people in Israel; it also has the potential to help others with retinal diseases around the world. “There’s the likelihood that a new retinal disease gene found in the Israeli population also affects people in other countries and with other ethnic backgrounds,” explains Dr. Perlman. “Also, the establishment of the Israeli genetic database will be used for clinical trials of new treatments, targeted for specific retinal degenerative diseases, which will help people across the globe.”

Known as the Israeli Retinal Degenerative Disease Consortium, the group is comprised of ophthalmologists and geneticists from 11 research centers. Dr. Perlman says that ophthalmology is highly advanced in Israel; there are a large number of ophthalmologists and testing centers per capita. Thus far, the consortium has recruited more than 600 families.

The first year of the three-year project will involve a feasibility study in which the consortium is formally organizing, and large-scale collaborations between researchers and ophthalmologists are being initiated.

Lirot, the Israeli Research Association for Eye Health and Blindness Prevention, played a key role in connecting the consortium with the Foundation. Dr. Perlman is chair of Lirot’s Scientific Advisory Committee.

“The Israeli retinal researcher community has always fostered collaboration and partnerships very well, and the ability for their different institutions to work together will be critical to the success of their genetic-screening efforts,” says Dr. Rose. “Given their track record, we are confident they will achieve their goal.”