CJG Blog

Center for Jewish Genetics blog

Genetic Shabbat 2017: Giving Back By Participating in Medical Research

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The Torah recognizes the need for each of us to take responsibility for our health in order to be able to keep the commandments and fulfill our purpose in the world. Genetic Shabbat – which takes place with Parshiyot Tazria and Metzorah on April 28 - May 4 – teaches us how to be proactive about our health and the health of others. 

This year, our message focuses on giving back by participating in medical research. We are a generous community and we give of ourselves in many important ways: through tzedakah, through volunteer work, and through random acts of kindness, just to name a few. We frequently devote our time, energy and resources to caring for others and helping those in need. So why call attention to another way of giving?

Medical research has the power to transform the lives of individuals, families and even entire communities. Through research, we have identified Jewish risks for genetic disorders and, in the case of Tay-Sachs, virtually eliminated new cases. Thanks to the selfless contributions of many men and women, a team in Israel developed an innovative treatment for Gaucher disease, a rare but potentially debilitating condition that is 100 times more common in Jews than in the general population.   

Researchers supported by The Michael J. Fox Foundation are now exploring a genetic connection between Gaucher disease and Parkinson’s disease. These diseases have been linked to the same genetic mutation, one that’s found more frequently in Ashkenazi Jews. The Norton & Elaine Sarnoff Center for Jewish Genetics is helping to spread the word about this important research – and other worthy studies – and we are asking for your help in the following ways: 

Every Shabbat, we should remind ourselves to be thankful for the blessing of good health. On Genetic Shabbat, please consider how you can contribute to advancing the health of future generations.

Have questions or want additional information? Contact Sarah Goldberg at (312) 357-4994 or SarahGoldberg@juf.org

DNA Day 2017

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National DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953. The National Human Genome Research Institute (NHGRI) began celebrating DNA Day annually on April 25th after the 108th Congress passed concurrent resolutions designating it as DNA Day. The goal of National DNA Day is to offer students, teachers and the public an opportunity to learn about and celebrate the latest advances in genomic research and explore how those advances might impact their lives.

The Norton & Elaine Sarnoff Center for Jewish Genetics has been celebrating DNA Day in Illinois since 2008 in collaboration with the Illinois Department of Public Health and Loyola University Chicago School of Social Work. The Center reaches out to 100 health departments around the state each year to educate nurses and clients about the importance of family health history and newborn screening in diagnosing rare and common diseases in order to improve health and save lives. Original materials are created and an educational webinar is held in cooperation with the Illinois Critical Access Health Network offering one free hour of continuing education credit for nurses that participate. This year’s offering is Better Together: Culturally Competent Nursing Practice to Achieve Better Birth Outcomes for Latina and African-American Mothers. For more information or to register, visit: icahn.org/professional-education/programs/?id=229.

But the larger mission of educating the general public about the latest advances in genomic research and its impact on individuals and families should not be overlooked. Rapid advances in genetic technology since the completion of the Human Genome Project has allowed physicians and researchers to use information about a person’s genetic make up to prevent, diagnose and treat disease. This new approach to medicine is called personalized or precision medicine as the focus is on identifying which approaches will be effective for which patients based on genetic, environmental and lifestyle factors.

Pharmacogenomics, an outgrowth of precision medicine, is the study of how genes affect a person’s response to particular drugs. This relatively new field combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses that will be tailored to variations in a person’s genes. This methodology is currently being used successfully in some cancer treatments where specific information about a person’s tumor is used to plan and monitor individualized care. 

"Probably at no time in the history of medical research has there been more potential and promise for discovery that will benefit mankind in terms of the health of the species as where we are right now as a result of the Human Genome Project."[1]  And that’s something to celebrate on National DNA Day this year!

[1] McMullan, Dawn, What is Personalized Medicine? It’s a changing world of healthcare. What you need to know about the movement fueled by genomic testing and tailored treatment.http://genomemag.com/what-is-personalized-medicine/#.WOfx2IWcE2w

Book Review: The Gene Machine By Bonnie Rochman

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Bonnie Rochman has knocked it out of the park (as us Cubs fans like to say) with her new book, The Gene Machine. Rochman, an award-winning journalist, provides an engaging and comprehensive account of the development of genetic screening in our generation.

Rochman starts by talking about how carrier screening has nearly eliminated the incidence of Tay-Sachs disease in the Jewish community. She chronicles the involvement of healthcare providers, rabbis and community leaders in the effort to inform Jewish and interfaith couples of the need for screening before starting a family. This effort – the first of its kind – is still considered one of the most successful community health programs ever undertaken and has served as a model for other public health efforts.

Dramatic advances in genetic technology over the last 15 years have given us the ability to screen more accurately for more diseases, Rochman explains. Genetic professionals, especially genetic counselors, have been working diligently to educate healthcare providers and community members about the importance of pre-conception and prenatal screening. With so much information available, genetic counseling is an essential part of the testing process.

Rochman also addresses the availability of advanced genetic technologies like pre-implantation genetic diagnosis (PGD). PGD allows carrier couples (for recessive diseases) and individuals with dominant genetic mutations, such as BRCA1 and BRCA2, to stop the transmission of these genes to the next generation through embryo selection.  According to Rochman, the fear of creating "designer babies" through this process seems unlikely at this time. That’s because most desirable character traits in children are a result of complex combinations of genes as well as lifestyle and environment. The overriding goal of couples going through this difficult and often costly process is to have a healthy baby.

In the chapter entitled, "Silencing of a Gene: The Future of Down Syndrome," Rochman interviews parents who have a child with Down syndrome. She raises moral, legal and ethical questions about how to deal with the future possibility of treating this common chromosomal abnormality while recognizing the humanity of individuals with Down syndrome and their families. 

Rochman concludes that we are swimming in uncharted waters. We know much more now than in previous generations, but there is still more that remains unknown. Most parents want their children to have an “open future” free from genetic predetermination but still want to be able to prevent serious disabling or fatal diseases from affecting them. There is no right answer for everyone. The challenge is how to manage the information available to us now and how to deal with uncertainty in the future.

"Although technologies now exist that our parents couldn’t have envisioned, the goal of most mothers and fathers remains the same: a healthy baby. Technology is just a means to an end, a way to make – and keep – children healthy." 

OPEN ACT Reintroduced In The House

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On Tuesday, December 13, 2016, the president signed the 21st Century Cures Act into law, after more than a year of bipartisan negotiations. This bill provides new money for the National Institutes of Health and additional funds for the FDA. It includes provisions for speeding up the approval of new drugs and establishing a new assistant secretary for mental health in the Department of Health and Human Services, as well as a chief medical officer. The bill also authorizes grants for areas such as suicide prevention, and seeks to improve the enforcement of "parity" rules that require insurance companies to cover mental health services to the same degree that they cover physical health services.  

Unfortunately, the final version of 21st Century Cures left out one of the key bipartisan provisions that would have brought needed treatments for the 30 million Americans with a rare disease. The Orphan Products Extensions Now, Accelerating Cures and Treatments (OPEN ACT; HR 971/S 1421) was endorsed by 173 national patient organizations and was included in the House-passed version of the 21st Century Cures Act, but was dropped from the final bill. The OPEN ACT would provide an incentive for companies to repurpose existing drugs for rare disease indications, which is substantially faster and more cost-efficient than traditional drug development. This legislation is critical to accelerating the drug development process and helping ensure the translation of new research into life-saving treatments for patients. The updated draft of 21st Century Cures is a missed opportunity to save and substantially improve the lives of patients with rare diseases. [1]

On February 27, the OPEN ACT was reintroduced in the House of Representatives as H.R. 1223 by Representatives Bilirakis (R – FL) and Butterfield (D – NC).  Several other representatives have also signed on as co-sponsors. Senators Hatch (R – UT) and Klobuchar (D – MN) plan to introduce companion legislation shortly.  According to the EveryLife Foundation, "Congress should incentivize the repurposing of potentially life-saving drugs for rare diseases and pediatric cancers. Similar incentives have been critical in the development of new medicines for underserved patient populations and could lead to hundreds of safe, effective and affordable rare disease treatments within the next five years." [2]

More information about the OPEN ACT and instructions to sign-on in support of the bill are available on the OPEN ACT webpage: http://everylifefoundation.org/open-act/

[1] Sullivan, Peter, thehill.com/policy/healthcare/310223-obama-signs-medical-cures-bill-into-law, 12/13/16


[2] http://everylifefoundation.org/open-act-reintroduced-u-s-house-representatives-hr-1223/

Baby1

We are proud to announce that our Carrier Screening Program is open with our new medical provider Insight Medical Genetics (IMG). Visit our Get Screened page to learn more about our program and how to register!

CJG-Whats-In-Your-Genes

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 . Be sure to check with 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 !