CJG Blog

Center for Jewish Genetics blog

Some Food For Thought on Gene-Editing

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By Elianna Miller

In late 2018, “CRISPR babies” made news worldwide, and they are now coming back to the spotlight. When He Jiankui made genetically modified embryos that grew into twin girls with HIV immunity, people were outraged. He didn’t discuss his plans with his scientific community, and the procedure was deemed unnecessary and risky. These so called “CRISPR babies” were viewed with great controversy and caused a halt in the global scientific community on gene-edited embryos.

Now, Russian scientist Denis Rebrikov has announced his desire to produce CRISPR babies that can hear from parents with recessive genetic deafness. Because both parents have an altered copy of a gene related to hearing, any child they naturally conceive would be deaf, too. The participants want to provide their children with the ability to hear. Rebrikov plans to consult scientific communities and explain the benefits of the process, unlike He.

So, what is CRISPR? It’s a groundbreaking technology that is often seen in the news but less often well understood. Short for Clustered Regularly Interspaced Short Palindromic Regions, multiple repeats of the same 30 or so base pairs are separated by different genes of interest (spacers). Spacers serve as a guide for an enzyme, usually Cas9, to cut specific pieces of the genetic code. When this “faulty” DNA is cut, that gene is essentially turned off.

The cutting also acts as marking, and other molecular components can guide new DNA to that marked spot. This unfortunately doesn’t always work perfectly. Since there are so many repeats, the cutting enzyme can go to the wrong spot, editing unintentionally. Rebrikov still wants to use this process to insert “hearing genes” into embryos regardless of the imperfect mechanism.

Many ethical dilemmas arise here. There is no consensus on who gets to decide when CRISPR should or should not be used. Right now, the ability to hear is a product of environment and parental genes, and scientists like Rebrikov are attempting to change those factors with this new technology.

The Center for Genetics and Society talks about CRISPR in the context of disability rights, and the range of perspectives needed when making decisions about cutting genes from embryos. They note that removing genes linked to certain characteristics is marking them as tragic, implying impossibility of a good life. How can we respect people living with certain conditions that we are choosing to eliminate from others? Also, where do boundaries lie, and how do we draw the line on what genes can be edited? If we can edit out certain genetic disorders, what will stop us from selecting for certain eye colors, heights, or intelligence capacities? These are difficult questions that will be debated again and again as CRISPR gene editing technology advances and begins to touch more lives.

To learn more about CRISPR along with the research and ethics of it, sign up for the Norton and Elaine Sarnoff Center for Jewish Genetics’ event: CRISPR: Is Gene Editing Kosher? We will be discussing potential answers and the lack thereof for questions like these.




Tay-Sachs and Carrier Screening: How They Shaped the Jewish Community

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By Elianna Miller

Many people have heard of Tay-Sachs disease, but what have they heard? Some are aware of the connection to Jewish ancestry and the devastation related to diagnosis. However, most don’t know about the history and cause of the disease, or the steps the Jewish community has taken to nearly eliminate it from our population. Community health organizations, like the Sarnoff Center, have provided resources to make this happen.

What is Tay-Sachs Disease?

Babies born with Tay-Sachs Disease experience slow nervous system deterioration, which diminishes cognitive functioning. This is usually seen as the loss of motor skills, vision, hearing, and strength someone had previously developed. Near the end of the 19th century, the researchers Warren Tay and Bernard Sachs worked separately but both contributed to the discovery of the disease. Sachs also noted the prevalence in Jewish populations. Because of the fatality, the search for a cause and a cure was on.

Fast forward to August of 1969, Drs. Okada and O'Brien found the enzyme that babies with Tay-Sachs lack: Hexosaminidase A. It is responsible for breaking down lipids (fat) in the brain and spinal cord. They become toxic if not broken down, which explains the destruction of the nervous system. Tay-Sachs is autosomal and recessive because as long as there is at least one functioning copy of the gene, Hexosaminidase A is produced to remove toxins. The problem arises when there are no enzyme producing copies. This discovery, along with the fact that about 1/30 Ashkenazi Jewish people are carriers (compared to 1/300 of the rest of the population), catalyzed people to do something. The realization of the link to Jewish ancestry led to an understanding in the scientific community that other genetic disorders are more prevalent in other specific populations, too.

So, Tay-Sachs is more common in Jewish populations. What does this mean?

The first community carrier screening event was held in 1971 at a synagogue in Maryland. Trained volunteers and physicians drew blood from over 1,500 people, which revealed if they had a possibility of having a child with Tay-Sachs. For the first time, people had knowledge about personal risk of having affected kids. Other Jewish communities wanted to do something similar.

The number of babies born with Tay-Sachs has reduced over 90% in the last 50 years. The reduction of cases of Tay-Sachs is not due to a cure, as there is not one yet. Carrier frequency in Jewish populations also has not changed. It is due to people being more educated about personal risk and taking the time to learn what they can do for prevention.

How does the Norton & Elaine Sarnoff Center for Jewish Genetics play into all of this?

The Center was founded in 1999 as an educational resource for genetic health risks in the Chicago Jewish population. Screening began shortly after that for only the 4 most common Jewish genetic disorders including Tay-Sachs. That number jumped to 19, then later to about 50. Today, there are around 80 “Jewish” disorders that we know of, and the Sarnoff Center screens for those and about 120 pan-ethnic disorders. One out of four Ashkenazi Jewish people are a carrier for at least one of these.

Since the beginning, we put on community health screening events much like the one in Maryland. A presenter would explain the importance of screening and make sure everyone went through the informed consent process during a dinner, and before leaving they would participate in a blood draw. However, these blood draws are no longer needed because screening can be done with a spit kit from home. Fun and interesting educational resources are much more easily accessible than they once were, so even people without a background in genetics can teach others the importance of awareness!





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.


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.


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 .