CJG Blog

Center for Jewish Genetics blog

Testing Update: Dor Yeshorim Expands to the Sephardic Community

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by Karen Litwack

Dor Yeshorim (DY), a confidential premarital genetic screening program has been in existence for over 30 years and has successfully prevented over 4,700 families from the potential of having children born with a genetic disease. 

Constantly seeking to help prevent the birth of affected children in the Jewish community, DY invests heavily in ongoing genetic research to identify disease-causing genetic mutations. Recently, DY began to expand its reach, launching a Sephardic genetic screening initiative that tests for genetic diseases that are commonly found among the Sephardic community. “Many people have the misconception that genetic diseases are something that only affects the Ashkenazic community. Yet, that is not the truth. In recent years, many families from the Sephardic community have begun reaching out to DY for genetic assistance as they too have given birth to children with fatal and debilitating genetic diseases.”[1]

“Dr. Ohad Birk, the head of the Genetics Institute at Soroka Medical Center, located in Be’er Sheva in Israel, believes that the dearth of research done around Sephardic genetic diseases is partially due to the fact that the genetic dynamics of the Sephardim are more complex than those of the Ashkenazim. While Ashkenazim hail from various countries, they are all susceptible to the same genetic diseases. Sephardim however will have different genetic diseases and mutations depending on their country of origin. This adds an additional layer of complexity when setting up a panel for genetic testing.”[2]

It is important to note that certain genetic diseases that are on the Ashkenazi panel can also be found among the Sephardim. There are also genetic diseases found only among the Sephardim. Due to this variability, DY recommends that all Sephardim be screened for genetic diseases whether their partner is Sephardi or Ashkenazi.

Those who joined the Dor Yeshorim program after January 2016 and indicated they were of Sephardic descent were automatically screened for both DY’s Ashkenazic and Sephardic panels. Those who were tested by DY before this time period should call the Dor Yeshorim office to update their information. An additional blood specimen is not needed in most cases.

For the full article – go to http://www.communitym.com/article.asp?article_id=104179

Please visit the DY website at http://doryeshorim.org/sefardi-non-askenazi-panel/  or contact them at 7148-384-6060 or email info@DorYeshorim.org  for a detailed explanation of their programs and services.

IAPA Sponsored Law Advancing Scope of Practice

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by Elayna Shanker

This past weekend was monumental for local PAs as Governor Rauner signed the Illinois Academy of Physicians Assistants rules and regulations cleanup bill into law on July 15th! With virtually no opposition and 17 cosponsors of both parties, this bill was signed into effect weeks before expected.

As an initiative of the Illinois Academy of Physician Assistants (IAPA), the proposal clarifies health rules, regulations, and responsibilities of employment for local PAs in a manner consistent with the Illinois PA Practice Act. The bill was proposed in an effort to elucidate the duties of PAs in the rapidly changing field of healthcare. Congratulations to all of our friends and partners in the PA community!

Read more here: http://us6.campaign-archive2.com/?u=ecbc42f03d756c82c22d8dbb3&id=1e452f1d14

'Holy grail' of Breast Cancer Prevention Might Be in Sight

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by Elayna Shanker

Approximately 1 in 40 individuals of Ashkenazi Jewish decent are carriers of the BRCA mutation—a mutation in a tumor suppressor gene that puts individuals at a much higher risk of developing both breast and ovarian cancer. For too long, individuals who carry a faulty BRCA gene have had limited options: either they manage the risk of developing a fatal condition, or they undergo life-changing surgeries where breast tissue and/or ovaries are surgically removed. There are no known preventative methods that reduce the risk of cancer for patients with mutated copies of this gene.

Fortunately, researchers at the Walter and Eliza Hall Institute have identified a drug that may inhibit the development of breast cancer caused specifically by mutations in BRCA1. This drug, denosumab, has historically been used to treat patients with osteoporosis and forms of bone cancer as it is known to inhibit the cellular signaling pathway important for osteoclast (bone cell) differentiation1. This same pathway, however, was recognized in cancer precursor cells taken from BRCA1 mutant breast tissue2. In a laboratory trial, inhibition of the pathway via denosumab resulted in decreased cell growth and proliferation—making it a realistic treatment for cancer delay or prevention2. Clinical trials are already underway to test the effectiveness of denosumab outside of the lab.

These findings are monumental for both cancer research and genetic screening. At the Center, we are hopeful that denosumab will, one day, be an effective and noninvasive option for carriers of the BRCA mutation!

Read the full article here: https://www.sciencedaily.com/releases/2016/06/160620120247.htm

 

(1) Bruhn, C. "[Denosumab. The first inhibitor of RANK-ligand for treatment of osteoporosis]." Medizinische Monatsschrift fur Pharmazeuten 33, no. 10 (2010): 370-375.

(2) Walter and Eliza Hall Institute. "'Holy grail' of breast cancer prevention in high-risk women may be in sight: Existing medicine may prevent cancer in women with breast cancer risk gene." ScienceDaily. www.sciencedaily.com/releases/2016/06/160620120247.htm (accessed June 24, 2016).

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Affordable, Accessible Genetic Screening in Illinois

Our affordable, accessible carrier screening program uses advanced technology to provide comprehensive screening for Jewish and interfaith couples. Visit our Get Screened page to learn more and register.

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Do You Know What's In Your Genes?

What is the most valuable gift you can give to your family? The gift of good health! There are many health conditions that run in families. Knowing your family health history can alert you to the potential risk for a variety of genetic disorders . Talk to your relatives for warning signs and assess your risk for hereditary cancers.

Did you know: Ashkenazi Jews are 10 TIMES more likely to have BRCA mutations, which significantly increases lifetime risks for hereditary cancers, so what does this heightened risk mean for you? Click here to learn more .