If you’re an Ashkenazi Jewish woman, a standard prenatal visit to the obstetrician includes testing for as many as 15 hereditary diseases that could affect your offspring. Insurance covers the cost. If you’re a Persian Jewish woman, and you want to be tested for the assortment of genetic mutations commonly found in the Iranian Jewish community, you’re basically out of luck. And quite likely, you’re also out of pocket, paying with your own money for each individual test.
But that may be changing soon, with prominent geneticists conducting two new research projects, one recently completed at Cedar-Sinai Medical Genetics Institute in Los Angeles, and another in the planning stages at Mount Sinai Medical Center here in New York. In addition, a New York-area group composed of Iranian Jewish physicians and leaders is in the process of launching an organization, SHORE (Sephardic Health Organization for Referral and Education), which hopes to turn greater attention to and provide better service for the medical needs of this community.
“We want to educate the community and help guide members through the process of getting screening and genetic counseling,” says Dr. Gidon Akler, a co-founder of SHORE. “The community is not well-informed.”
Akler is also helping to develop a screening test for Persian Jewish genetic diseases for the Mount Sinai research project. Dr. Robert Desnick, who is professor and chair of the Department of Genetics and Genomic Studies at the Mount Sinai School of Medicine, is overseeing the project.
The launching of the two studies relates both to advances in medical science, which has linked genetic mutations to specific ethnic groups, and to a slight shift in the culture of the Persian Jewish community, which historically has been extraordinarily private about issues like illness. But there is less fear and more open discussion among younger members of the community.
“There was a huge turnout at Sinai Temple,” says Karmel Melamed of the first screening site for the Cedar Sinai study. Melamed, a Los Angeles-based lawyer, who blogs about Iranian American Jews, says, “there were a few older people who were concerned, but,” in general, “there was no hesitancy about it.”
Melamed, who spit into a tube to offer his saliva sample while CNN cameras rolled, says he wasn’t surprised to learn that he was not a carrier of any of the four genetic mutations tested as he hadn’t heard about such diseases in his immediate family, but he gladly participated “to send a message that this is not something to be scared of.”
Daniel Darvish remembers that 15 years ago even doctors kept quiet about the preponderance of muscular deterioration among young adults in their Persian Jewish community. “Thinking back, it’s almost comedic,” says Darvish, who is a physician and co-founder of ARM, (Advancement of Research for Myopathies) a decade-old support and advocacy group for HIBM, Hereditary Inclusion Body Myopathy, a muscular disorder that disproportionately affects Jews of Middle Eastern descent. Both Darvish, who is 42, and his brother Babak Darvish, who is 40, are victims of HIBM, and are largely confined to wheelchairs.
The two research projects, both centered in regions with large populations of Persian Jews (Los Angeles may have as many as 45,000, while New York has somewhere between 10,000 and 20,000), focus on different sets of four mutations.
Dr. Michael Kaback and Dr. David Rimoin, who developed the West Coast study, included HIBIM as well as three diseases common to the Persian community, which are relatively easy to treat: pseudocholinesterase deficiency (anesthesia sensitivity) congenital hypoaldosteronism (salt losing disorder), and polyglandular deficiency (multiple hormone deficiency).
This project, which screened 1,000 people, largely confirmed the results of earlier screening done in Israel. Forty years ago, Kaback and Rimoin pioneered research on Tay Sachs screening in the Ashkenazi Jewish community. And the hope is that the same philosophy that was applied in combating Tay Sachs, which has largely been eradicated, can be used to reduce the incidence of these genetic diseases, says Rimoin. Although with an illness like HIBM, which sometimes takes 30 years until symptoms are exhibited, the process will take longer, he says.
The Mount Sinai project will develop a screening test for four diseases. Besides pseudocholinesterase deficiency and HIBM, it will include Wolman Disease (an untreatable illness, which relates to lipid storage, and usually causes death within the first year of life) and Usher Type II (an untreatable illness which causes loss of hearing and vision).
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