CJG Blog

Center for Jewish Genetics blog

Meet Jess, the Sarnoff Center's Project Coordinator

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Jess

I am thrilled to be joining the Norton & Elaine Sarnoff Center for Jewish Genetics as their Project Coordinator. I started my career with JUF in 2018 with the Professionals Network in the Campaign Division. I’m originally from Evanston but am moving to the Andersonville/Uptown neighborhood! I graduated from Indiana University Bloomington with a major in Sociology and minor in Human Sexuality and Reproductive Health. I’m incredibly passionate about equitable and accessible health education and cannot wait to participate in the wonderful work the Community Outreach and Engagement team does. In my free time I love spending time outside with my pups, eating my way through various Chicago neighborhoods, and finding the best coffee shops! 

Honoring My Family Legacy & Health History with Thanksgiving Travel

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ArianaBy Ariana Roman

Growing up, my family often took an unconventional approach to celebrating Thanksgiving. Whether we were traveling to Puerto Rico to visit extended family or cooking everything except turkey, Thanksgiving was always a favorite holiday of mine. 

Following the passing of my grandfather, my mom and I switched up our typical Turkey Day festivities. We realized that vacationing over the holiday weekend was a great way to fill our travel itch and tap into our roots. One of our most memorable trips was in 2016 when we visited Madrid, Spain. 

As a child, I visited Madrid, Barcelona, and Malaga; I couldn’t turn down an opportunity to travel back to Madrid as an adult. My mom and I went food-market hopping to places like the Mercado de San Miguel; strolled through the Parque del Buen Retiro; attended a fútbol game at Santiago Bernabéu Stadium; and made friends with the owner of Casa Lucio’s, a rustic Spanish restaurant.  

Although I missed being with my family for our typical gathering, it felt refreshing to go off the beaten path. I learned you don’t need to be close to home to give thanks to your family members but can honor their legacy by exploring sites abroad in their absence. Once it is safe to travel abroad again, I look forward to celebrating Thanksgiving in the Basque countryside of Spain, as my mom and I recently learned that most of our Puerto Rican ancestors moved to the island in the early 1700s from the Basque region. 

There’s also an important aspect of family history that tourism won’t help uncover family health.. My family is aware of our history with multiple sclerosis., A discussion about family cultural history lends itself nicely to a new conversation focusing on our shared health history.  

Thanksgiving is all about celebrating family, no matter where you are. This week, take time to reflect on your family health history as well. Discuss your health history, ask questions of other family members, compare anecdotes, and, ultimately, share this information with your healthcare provider and promote your relatives to do the same. Hopefully, these talks will help to keep us grateful for our health in years to come. 

Happy Thanksgiving!

Spinal Muscular Atrophy Awareness Month

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SMA2By Carol Guzman

August marks Spinal Muscular Atrophy (SMA) Awareness month, which aims to increase awareness and advocacy efforts for the rare genetic disorder. SMA affects the nerves in the spine that control the muscles for breathing, swallowing, and limb movement. The disorder causes these neurons to degrade, resulting in a child having weak muscles and loss of muscle control. SMA occurs in approximately 1 in 800 live births. The disorder is inherited in the autosomal recessive fashion, meaning if both parents are carriers for SMA, each of their children has a 25% likelihood of having SMA, a 50% chance of carrying the SMA-causing mutation without health effects, and a 25% chance of not carrying the mutation at all. SMA is one of the most common inherited causes of childhood mortality, second only to cystic fibrosis. Fortunately, screening and treatment options for this devastating disorder are available.

In 2017, The American College of Obstetricians and Gynecologists (ACOG) recommended that all women considering pregnancy or currently pregnant be offered screening for SMA, along with cystic fibrosis, and hemoglobin-related disease. While the three recommended diseases are Jewish genetic disorders because of their high carrier frequencies within the Jewish population, the diseases still have relatively high carrier frequencies in the general population. For SMA specifically, the carrier frequency in the Ashkenazi Jewish population is 1 in 62, while in the general population the carrier frequency is 1 in 49

There are various SMA types, each with its own characteristics and symptoms:

  • Type I is the most severe form of SMA and can cause death from respiratory failure within 2 years.
  • Type II is less severe; patients with this type of SMA can lived up to their mid-20s.
  • Type III exhibits symptoms after 18 months
  • Type IV shows symptoms in adulthood

There are now treatment options for SMA, which was once considered an incurable disease. However, the earlier an infant is diagnosed with SMA, the earlier they can receive treatment to prevent and delay motor neuron degeneration. Carrier screening before pregnancy allows partners to identify whether their future child will inherit an early onset recessive disorder. ACOG recommends that individuals of Ashkenazic ancestry should be screened for additional diseases, including Canavan disease, Familial Dysautonomia, and Tay-Sachs. However, there are many more diseases people of Ashkenazi descent, including those in an interfaith partnership, should consider being screened for even though they are less common in the global population.

Consider talking to your health care provider or a genetic counselor about carrier screening before family planning. In addition, join us on Oct. 6 for Decoding Genetic Tests for Parents to Be, a program that will focus on all the genetic tests offered pre and postnatally.

To learn more about the Sarnoff Center’s affordable, accessible carrier screening program or to speak with a genetic counselor, visit Jewishgenetics.org/cjg/get-screened or contact us at GeneticScreening@juf.org

Additional Resources: 

  1. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) | Genetics in Medicine (nature.com)

Meet Community Health Educator Ariana Roman

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ArianaRomanFrom Ariana: 

I am delighted to be joining the Sarnoff Center for Jewish Genetics as a Community Health Educator!  I am originally from New York City and later moved to Buffalo, NY where I studied psychology and counseling services at SUNY-Buffalo.  Upon completion of my BA, I relocated to Chicago to pursue a Master of Public Health with a concentration in Community Health Sciences-Maternal and Child Health.  In the past, I aided in projects that ranged across a variety of topics, such as prenatal substance exposure, intimate partner violence, implementation science, and LGBTQ student health. I am thrilled to be able to apply my interdisciplinary background in the Chicagoland Jewish community, which has become my “home away from home.”  Aside from my professional endeavors, I love to read, listen to podcasts, try new restaurants, travel abroad, and spend time with family and friends. 

Please reach out to me at 312-357-4717 or ArianaRoman@juf.org. 

 

Baby1

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.

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 . 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 .