Genetic Testing For Sephardic Jews Faces Reluctant Community

Screening for Muscle Ailment Provides Alternate Model

Breaking Taboo;  Dr. William Warren Brien (left), former mayor of Beverly Hills, at the annual Neuromuscular Disease Foundation Gala with Carolyn Yashari Becher, executive director of NDF, which funds HIBM research and seeks to raise awareness about genetic disease in Sephardic communities.
Neuromuscular Disease Foundation
Breaking Taboo; Dr. William Warren Brien (left), former mayor of Beverly Hills, at the annual Neuromuscular Disease Foundation Gala with Carolyn Yashari Becher, executive director of NDF, which funds HIBM research and seeks to raise awareness about genetic disease in Sephardic communities.

By Anne Cohen

Published August 11, 2013, issue of August 16, 2013.
  • Print
  • Share Share
  • Single Page

(page 2 of 4)

Because there is no cure or treatment for HIBM, potential carriers are reluctant to get tested, knowing the outcome is eventually the loss of important muscle function and a wheelchair-bound existence. “You know what’s coming, and in that moment you know there’s nothing you can do to stop it,” Jennifer, now 38 and a mother of two children, said about the disease. “With HIBM, you are constantly having to mourn new losses and look ahead at the future. You can’t ever fully mourn it because it’s always changing.”

A recently launched clinical trial by Ultragenyx Pharmaceutical may offer light at the end of what is now a very dark tunnel. The Ultragenyx trial is a double-blind study of 46 participants, testing the potential of sialic acid on muscle activity. Though the study, conducted in coordination with experts in Japan and Israel, is still in the second stage of a three-phase trial, an interim analysis after 24 weeks showed some improvement in muscle strength, particularly in the upper extremities. No changes were noted in the lower extremities.

“The reality of it is that these things are developments,” explained John Ditton, vice president at Ultragenyx. “What we’re trying to do with HIBM is say ‘Let’s put one foot forward here.’”

Still, the best bet for eradicating the disease remains genetic counseling and prenatal screening, which allow carriers and affected people options and awareness.

Several large medical institutions — one in Israel, one in Los Angeles and one in New York — offer prenatal testing for HIBM and certain other so-called Sephardic or Mizrachi Jewish genetic diseases. Prior to 2010, any tests for HIBM had to be sent to Hadassah Hospital in Israel, where Dr. Zohar Argov first identified the condition. Later, together with Dr. Stella Mitrani-Rosenbaum, Argov also identified the specific gene mutation that caused the condition.

Argov discovered the disease by chance in 1979, when as a young doctor he saw a patient who supposedly had muscular dystrophy. He found the man in a wheelchair, with his granddaughter sitting on his extended legs — an unlikely position for someone with that condition. Intrigued, Argov started hunting for similar cases. “The more I looked, the more I found. I noted that more and more of these people have this unique phenomenon and they’re all Persian Jews.”

In 1994 he joined forces with Mitrani-Rosenbaum, and in 2001 her lab discovered the gene mutations causing the condition. Then, Argov noted something peculiar: Researchers in other countries had documented similar cases, without connecting the dots. “It turned out that it’s not unique to Persian Jews,” he said. “It exists worldwide with other mutations.”

In 2006, Jennifer’s mother founded the Neuromuscular Disease Foundation to raise awareness of HIBM and fund research. In 2012, the foundation gave $200,000, raised through its annual gala, to Argov and Mitrani-Rosenbaum’s lab.

Yet comprehensive screening for the disease has been slow in coming. In 2009, Cedars-Sinai Hospital in Los Angeles launched a pilot program to test people for four recessive diseases that are found at elevated frequencies among Jews from Iran.

The Jewish Daily Forward welcomes reader comments in order to promote thoughtful discussion on issues of importance to the Jewish community. In the interest of maintaining a civil forum, The Jewish Daily Forwardrequires that all commenters be appropriately respectful toward our writers, other commenters and the subjects of the articles. Vigorous debate and reasoned critique are welcome; name-calling and personal invective are not. While we generally do not seek to edit or actively moderate comments, our spam filter prevents most links and certain key words from being posted and The Jewish Daily Forward reserves the right to remove comments for any reason.

Find us on Facebook!
  • The sign reads: “Dogs are allowed in this establishment but Zionists are not under any circumstances.”
  • Is Twitter Israel's new worst enemy?
  • More than 50 former Israeli soldiers have refused to serve in the current ground operation in #Gaza.
  • "My wife and I are both half-Jewish. Both of us very much felt and feel American first and Jewish second. We are currently debating whether we should send our daughter to a Jewish pre-K and kindergarten program or to a public one. Pros? Give her a Jewish community and identity that she could build on throughout her life. Cons? Costs a lot of money; She will enter school with the idea that being Jewish makes her different somehow instead of something that you do after or in addition to regular school. Maybe a Shabbat sing-along would be enough?"
  • Undeterred by the conflict, 24 Jews participated in the first ever Jewish National Fund— JDate singles trip to Israel. Translation: Jews age 30 to 45 travelled to Israel to get it on in the sun, with a side of hummus.
  • "It pains and shocks me to say this, but here goes: My father was right all along. He always told me, as I spouted liberal talking points at the Shabbos table and challenged his hawkish views on Israel and the Palestinians to his unending chagrin, that I would one day change my tune." Have you had a similar experience?
  • "'What’s this, mommy?' she asked, while pulling at the purple sleeve to unwrap this mysterious little gift mom keeps hidden in the inside pocket of her bag. Oh boy, how do I answer?"
  • "I fear that we are witnessing the end of politics in the Israeli-Palestinian conflict. I see no possibility for resolution right now. I look into the future and see only a void." What do you think?
  • Not a gazillionaire? Take the "poor door."
  • "We will do what we must to protect our people. We have that right. We are not less deserving of life and quiet than anyone else. No more apologies."
  • "Woody Allen should have quit while he was ahead." Ezra Glinter's review of "Magic in the Moonlight":
  • Jon Stewart responds to his critics: “Look, obviously there are many strong opinions on this. But just merely mentioning Israel or questioning in any way the effectiveness or humanity of Israel’s policies is not the same thing as being pro-Hamas.”
  • "My bat mitzvah party took place in our living room. There were only a few Jewish kids there, and only one from my Sunday school class. She sat in the corner, wearing the right clothes, asking her mom when they could go." The latest in our Promised Lands series — what state should we visit next?
  • Former Israeli National Security Advisor Yaakov Amidror: “A cease-fire will mean that anytime Hamas wants to fight it can. Occupation of Gaza will bring longer-term quiet, but the price will be very high.” What do you think?
  • Should couples sign a pre-pregnancy contract, outlining how caring for the infant will be equally divided between the two parties involved? Just think of it as a ketubah for expectant parents:
  • from-cache

Would you like to receive updates about new stories?

We will not share your e-mail address or other personal information.

Already subscribed? Manage your subscription.