Eye On the Cure Research News

Sep 24, 2019

Consortium Genetically Tests 40 Percent of People in Israel with IRDs

Patient benefits from genetic testing for IRDs include confirmation of their clinical diagnosis, identification of the disease inheritance pattern and risk for other family members, and determination of human studies for emerging therapies that may be appropriate for them.

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The Israeli Inherited Retinal Disease Consortium (IIRDC), a collaboration led by Hadassah-Hebrew University Medical Center in Jerusalem, has genetically tested 3,413 people with inherited retinal diseases (IRDs) from 2,420 families in Israel. The number tested is approximately 40 percent of all people affected by an IRD in the country. The Foundation Fighting Blindness provided $600,000 in funding for the project, which began in 2013. Results of the genetic testing effort were published online in the journal Human Mutation.

The IIRDC consists of five genetic centers, four electrophysiological laboratories, 11 ophthalmologists with expertise in IRDs, and a bioinformatics expert.

Participants tested in the study included: Bedouins, Arab Muslims, Arab Christians, and others from various Jewish ethnic groups.

While the genetic knowledge gleaned from the study will help people with IRDs in Israel, researchers and IRD patients from around the world will benefit from it, as well.

Brian Mansfield, PhD, vice president of research, interim chief scientific officer, Foundation Fighting Blindness

“Israel is an ideal locale for a large-scale IRD genetic testing study because of the IRD prevalence in the population, small geography, and expertise in IRDs,” says Brian Mansfield, PhD, vice president of research, interim chief scientific officer, Foundation Fighting Blindness. “While the genetic knowledge gleaned from the study will help people with IRDs in Israel, researchers and IRD patients from around the world will benefit from it, as well.”

Genetic testing for IRDs provides numerous benefits for patients including: confirmation of their clinical diagnosis, identification of the disease inheritance pattern and risk for other family members, and determination of human studies for emerging therapies that may be appropriate for them. Genetic studies also help clinical researchers better understand the link between a gene mutation and the patient’s visual prognosis.

The researchers reported that the mutated genes most frequently identified in the participants were:

  • ABCA4 – most frequent cause of Stargardt disease
  • USH2A – causes both Usher syndrome and non-syndromic retinitis pigmentosa (RP)
  • FAM161A – causes RP
  • EYS – causes RP
  • CNGA3 – causes achromatopsia (day blindness)

The IIRDC also reported that 17 novel IRD genes were identified through its study.