CJG Blog

Center for Jewish Genetics blog

Remembering Dr. Henry Lynch, the Father of Cancer Genetics

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By Melissa Ramos

In genetic counseling, we focus on the science for our patients- genes, disease, symptoms, treatment, prognosis. Since we are so focused on our patients, we sometimes lose sight of the origins of this information. It doesn’t just magically appear in articles, textbooks, and databases, but exists because of the work of brilliant individuals in the field. One such individual is Henry T. Lynch, MD, often cited as the “father of cancer genetics.”

Dr. Henry T. Lynch passed away on June 2, 2019. We remember him for his significant work to identify cancer syndromes, patterns of inheritance and cancer detection. Dr. Lynch realized that a predisposition to cancer can be hereditary, an unpopular opinion of his time. To prove his hypothesis, he began to take family histories when meeting with patients, which is now a key step to understanding a family’s genetics, not only in cancer, but in all specialties. He tracked families for generations to identify patterns of cancers and develop the principles of cancer genetics: early age of onset, specific pattern of multiple cancers, and inheritance patterns in families.

Due to his work, Dr. Lynch is also the namesake of Lynch syndrome, formerly known as hereditary non-polyposis colorectal cancer (HNPCC). Lynch syndrome is an inherited cancer syndrome associated with various cancers, including colon, rectal, ovarian, breast, and small intestinal cancer. Lynch syndrome is inherited in an autosomal dominant pattern, in which one gene mutation is enough to cause an increased risk for cancer. Lynch syndrome affects both men and women. If one parent has a disease-causing mutation, there is a 50% chance each of their children will inherit the mutation and predisposition for cancer.

Dr. Lynch also contributed to the work associated with hereditary breast and ovarian cancer (HBOC), which is caused by mutations in the BRCA1 and BRCA2 genes. Certain gene mutations associated with different hereditary cancer syndromes are more prevalent in individuals with Ashkenazi Jewish descent. If you have a personal or family history of cancer, talk to your doctor for more information.

Because of the fortitude and dedication of research contributors like Dr. Lynch, we are now able to identify disease-causing mutations in patients, predict the risk of cancer and improve early detection and treatment options, impacting families worldwide.

To learn more about hereditary cancer syndromes or to speak with a genetic counselor, visit JewishGenetics.org/cjg/get-screened or contact us at GeneticScreening@juf.org.

Meet Elianna, Our 2019 Lewis Summer Intern!

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I am extremely excited to be the Lewis Summer Intern at the Norton and Elaine Sarnoff Center for Jewish Genetics! I currently attend The Ohio State University as a psychology major and am working towards a molecular genetics minor. Serving as the Vice President of the Undergraduate Genetic Counseling Club is something I hold of high importance while away at school as I work towards my career goal of genetic counseling. I also enjoy events at Hillel and am looking forward to being on their student board in the fall. In addition, I belong to the sorority Alpha Xi Delta.

I am thrilled to be back in Chicago this summer. I grew up in Buffalo Grove and attended Stevenson High School. I have 2 younger brothers, a younger sister, and a miniature golden doodle that I miss while away! Growing up in Buffalo Grove exposed me to the importance of activity in the Jewish community. I am eager to learn about how I can blend my academic and professional interests of genetics with my personal passion for Judaism. The Sarnoff Center does so many things that I want to know more about. While I am especially interested in the work they do related to the field of genetic counseling, I also want to dive into the public health sector and grasp how we can help the community overcome barriers in Jewish genetic education.

Beta Thalassemia: Sickle Cell Disease's Lesser Known 'Jewish' Cousin

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By Carol Guzman

Every year, on the 19th of June, we celebrate World Sickle Cell Day to help raise awareness of the most commonly inherited blood disorders. You have probably heard about sickle cell disease when learning about genetics in your high school biology class, but have you heard of the ‘Jewish’ blood disorder, beta thalassemia? Both diseases affect hemoglobin production, result from mutations on the same gene, and can be passed down without any known family history.

Red blood cells carry oxygen from your lungs to other parts of your body using a protein called hemoglobin. Red blood cells are typically round and smooth and can easily glide through blood vessels and deliver oxygen throughout the body. Sickle cell diseases are a group of disorders that are caused by mutations in the hemoglobin – subunit beta (HBB) gene. A specific HBB mutation causes hemoglobin molecules to become abnormal, which leads the body’s red blood cells to stiffen and sickle. The hardened and sickled red blood cells easily pile up on one another, causing blockages in blood vessels, damage to vital organs, and the inability to deliver oxygen to bodily tissues.

In the United States, sickle cell disease is most prevalent among African Americans. Currently, the only cure for sickle cell disease involves a bone marrow/stem cell transplant. However, many clinical trials are working to create a less dangerous cure for the most common genetic disease.  

Another specific HBB mutation causes a disease known as beta thalassemia. Rather than having abnormal hemoglobin that causes red blood cells to sickle, people with beta thalassemia do not make enough hemoglobin, resulting in a shortage of mature red blood cells and lack of oxygen.

Health professionals recommend Sephardic Jews get screening for beta thalassemia, as it often occurs in people of Mediterranean, North African and Middle Eastern countries. 

Although the diseases result from different HBB mutations, they are typically inherited in an autosomal recessive pattern. Both parents need to be carriers of beta thalassemia or sickle cell disease in order to have a 25% risk of passing the disease down to each of their children and a 50% risk of each child becoming a carrier for either disease.  A small number of cases have shown that beta thalassemia can also be inherited in an autosomal dominant manner, causing the disease to manifest in someone with just one beta thalassemia HBB gene mutation.

A newborn screening test can detect various kinds of mutations on the HBB gene, including the specific mutations for sickle cell disease or beta thalassemia. A doctor can also conduct a blood test on a newborn to check for sickle cells or low amounts of red blood cells.

Both sickle cell disease and beta thalassemia affect people worldwide. In Illinois, doctors screen all newborns for sickle cell disease and beta thalassemia. Talk to your doctor or a genetic counselor about adding beta thalassemia to your preconception carrier screening panel if you have Mediterranean, North African or Middle Eastern ancestry.

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. 

Dad the Hypocrite: A Confession

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By Jason Rothstein

People who know me have heard me speak many times in defense of hypocrisy.

Look, we should all try to live up to the ideals and values we espouse, and there’s not much to admire in someone who publicly declares one set of values while privately living another, particularly when those choices are thoughtless, selfish, or cruel.

But a little bit of hypocrisy? A little bit of hypocrisy keeps the world spinning. A little bit of hypocrisy acknowledges that our flaws should not keep us from striving to be better.

Give me a choice between a political candidate who is a hypocrite and a political candidate who is a scold, and I’ll vote for the hypocrite every time.

Last Father’s Day, I wrote an impassioned post about the importance of staying healthy as a dad. I wrote about as a father, making time for self-care is actually a selfless act, because the family needs you to be healthy and capable.

And I was right. But I was also a big, fat hypocrite. (And not just figuratively.)

I don’t know if my blog post reached anyone else, but after some reflection that my hypocrisy, in this case, was indefensible, I took action. I cataloged all the things that seemed to be going wrong prematurely in my middle-aged dad body, and then I scheduled a general physical for the first time in almost three years.

The results were not pretty, but not hopeless. I scheduled a follow up for three months later and got to work.

I didn’t do anything fancy. I resurrected a long dormant MyFitnessPal account and started logging food reliably and made some adjustments to my diet. I cut out sweets and alcohol altogether temporarily. I instituted a serious walking regimen, and when the Series 4 Apple Watch came out, I decided to finally put away my beloved mechanical watch for something that might be able to do more than tell me the time.

In three months, I lost nearly 20 pounds, and was taken out of some immediate danger zones by my doctor. I loosened up on some of the diet restrictions but kept everything else and lost another 10 pounds by the new year. Chicago’s winter set me back a bit, but even then on most days, I was dutifully logging two miles in downtown’s little-known and underused pedway system. 

(I didn’t care whether people noticed or not, but I got comments almost everywhere except work. When you work at a Jewish organization, the few comments about weight loss are all prefaced with, “Is everything okay? Are you sick?” We are nothing if not haimisch at JUF.)

To repeat it again, I am a middle-aged dad. I didn’t do this to improve my dating prospects, or to get ready for the beach, or to train for an athletic event. I did it so I could chase my son around the playground without feeling like I was going to keel over. I did it so I had the endurance to keep carrying my daughter when that was the only thing that would get her to sleep. I did it to improve the odds that I will see my kids bar and bat mitzvah’d, see them get married, see them have children of their own.

I have more work to do, and I bet even the healthiest, fittest dads reading this do too. Get that check-up. Get that test. There are better ways of being a hypocrite than short changing your health and your family.  

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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 .