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Israel Update: Genetic Discovery Highlighted at Retinal Research Conference

Tel Aviv, Israel

Tel Aviv, Israel

Now that I’m back from my trip to Israel, I wanted to offer a couple more posts about my visit, the first covering a fascinating research conference in Tel Aviv.

While attending the Israeli meeting of the Association Research in Vision and Ophthalmology (ARVO), FFB Board member David Brint and I were immediately impressed by Israel’s cutting-edge genetic research. Scientists there are searching for a number of inherited retinal disease genes using state-of-the-art screening technologies and techniques. And the genes they’re after not only affect Israelis, Palestinians and others in the Middle East, but also people in the U.S. and around the world.

We were particularly impressed with Dr. Tamar Ben-Yosef, a knowledgeable and insightful young woman, whose laboratory at Technion University is on the hunt for genetic defects that cause retinitis pigmentosa (RP) and Usher syndrome. She is also working with newly identified RP genes — including MAK and DHDDS — to understand how defects in them cause vision loss. That information will be critical to the development of sight-saving treatments and cures.

Dr. Ben-Yosef told us about her challenging work in understanding an unusual form of RP that causes severe cone degeneration. (RP usually affects both types of photoreceptors, rods and cones, but rods more severely, at least initially.) What’s also unusual is that the disease-causing genetic mutation is found in multiple retinal cell types, including photoreceptors and ganglion cells.

David and I also saw presentations and posters from our good friend Dr. Dror Sharon, an FFB-funded researcher from Hadassah Medical Center, who is studying a number of genes, including CRB1, which is linked to about 10 percent of all Leber congenital amaurosis (LCA) cases in Israelis and Palestinians. In addition to previously discovering the RP gene FAM161A, he continues to investigate the way its affect on rods is different from its impact on cones. That work will ultimately lead to targets for treatments.

Lest anyone think that Hadassah and Technion have a lock on the genetics research in Israel, there were reports on LCA, Usher, different forms of RP (dominant and recessive) and achromatopsia (day blindness) from the Rabin Medical Center, Assaf Harofeh Medical Center, Edith Wolfson Medical Center, Tel Aviv University and Hebrew University School of Veterinary Medicine in Rehovot.

We also learned that age-related macular degeneration (AMD) affects individuals in Israel just like people elsewhere in the developed world, and, as a result, there’s a lot of research into the causes (genetic and non-genetic) and potential treatments. One particularly interesting finding from Dr. Itay Chowers’ group at Hadassah is that one of the primary genetic changes that increases dry AMD risk is found at a higher frequency in the Arabic population than in the Jewish population.

I must say, while the Israeli ARVO wasn’t quite the size of the annual ARVO  conference in the States, the quality of the research was outstanding. In addition to the great genetics work, the science community is also doing outstanding stem cell research, some of which I reported on in my previous post.

Before arriving at the conference, I was concerned about the potential language barrier. I knew that most of the talks were in Hebrew. But, fortunately, the slides and posters were in English. So, while my Hebrew (and David’s) is very rusty, I was able to understand the science, which was some of the best I’ve seen.

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