NGF News

Tuesday, October 24, 2006
Jewish week

Genetic Package Deal
By joining forces, groups addressing Jewish hereditary diseases are able to increase awareness and prevention. Francesca Lunzer Kritz - Health Writer.

Organizations chasing too few charitable dollars, a newly formed organization stands out as an example of what people can do if they join hands instead of gnashing teeth.

Recently, a group of small organizations representing serious and often fatal Jewish genetic disease came together to form a collective — the Jewish Genetic Disease Consortium — that allows each group to retain its individual mission and character but together helps educate Jews about preventing these diseases.

The consortium was founded about a year ago and is made up of a variety of groups including patient organizations, genetic counselors, educators, advocates and medical professionals dedicated to helping families avoid the tragedy of genetic diseases, says Lois Neufeld, co-chair of the New York-based consortium.

“Unfortunately,” says Neufeld, “many people still believe that Tay-Sachs disease is the only Jewish genetic disease of concern and that it has been all but eradicated. The fact is, until scientists learn how to correct inherited genetic mutations, every generation of Ashkenazi Jews is at risk of passing on a gene for one of at least 11 diseases — such as Canavan disease, Bloom’s Syndrome and Familial Dysautonomia — that occur more frequently in the Ashkenazi population.”

The good news, says Neufeld, “is that individuals can now be tested for all of these diseases with one simple blood test. Knowing your carrier status can help you to prevent tragedies in future generations.” Educating young Jews about the need for testing is the consortium’s mission.

When asked why there’s a need for the consortium, Neufeld has a ready answer: “Each of the member patient organizations already provides information about a particular disease through their own Web sites and outreach programs. But through the consortium, these groups have joined together with medical professionals, genetic counselors and educators to speak with one voice about the importance of genetic testing for all of the diseases.

“Each of the patient organizations recognizes that they advocate for very small populations,” she continues, “but as a group, the JGDC advocates for all people at risk. This gives the consortium greater political power and an economy of scale that none of the individual groups could achieve on their own.”

Experts who work in the field of Jewish genetic diseases are extremely proud of the new effort. “Historically, the various support groups have always worked independently. And, to an certain extent, this is reasonable and important. The research for Gaucher, for example, is not same as for [other diseases],” says Dr. Sue Gross, medical adviser to the consortium and associate professor and co-director of the Division of Reproductive Genetics at Montefiore Medical Center and the Albert Einstein College of Medicine in the Bronx.

However, says Gross, from the outside looking in, if you don’t have an immediate connection with these disorders, they seem like rare diseases and one seems like the next. That all changed with the consortium. While individually rare, as a group they are not.

“The collective energy, the collective voice which is now communal and the overwhelming feeling that you get at the consortium meetings is indescribable,” says Gross. “I sit there overwhelmed by people who have had their lives completely turned upside down by tragedy, and in between running to take care of their own families, handling phone calls from newly diagnosed families, running in and out of hospitals, they spend every waking hour making sure that this tragedy will never befall another family. I don’t think I have ever felt as Jewish as when I have spent time with these amazing people.”

Stan Michelman, co-chair with Neufeld of the consortium, knows the tragedy firsthand. Evan, his grandson, who died of Tay-Sachs at 4 1/2, would have had his bar mitzvah next summer. He and Neufeld are very proud of the consortium’s accomplishments, on a shoestring budget of under $100,000, including: a “grand rounds’’ curriculum that teaches physicians across the country about the importance of genetic screening, increased awareness among religious groups and rabbinical students, a growing effort on college campuses and “It’s Not Just Tay-Sachs,” a presentation about Jewish genetic diseases slated for the United Jewish Communities General Assembly in Los Angles next month.

One key goal of the consortium, however, is targeted education that explains what testing can find and offers descriptions of the diseases and the options available if a genetic disease is detected. “This is not just about sticking your arm out,” says Dr. Adele Schneider, director of clinical genetics at the Albert Einstein Medical Center in Philadelphia and a board member of the consortium.

Schneider, who also heads the screening program at Einstein’s Victor Center for Jewish Genetic Diseases, says that while many people still think the diseases have been eradicated, “we are picking up carriers in every four to five people we screen.” (Carrier status is crucial, which is why screening on campuses is so important. People who know their carrier status are more likely to ask potential spouses their status as well and can make informed decisions if they are carriers of the same genetic diseases.)

Sue Gross says the very existence of the consortium changes the conversation about Jewish genetic diseases. “The consortium has redirected our focus from illness to health and from isolation to community building. They are initiating, essentially, the most important public health project in Jewish history.”

For more information on Jewish genetic diseases and screening opportunities, contact the Consortium, www.jewishgeneticdiseases.org, (866) 370-GENE (4363), info@JewishGeneticDiseases.org.

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