In 1976, a letter to the editor thanked this publication for its coverage of the genetic disease Tay-Sachs, and for regularly promoting opportunities to get tested.
At the time, Tay-Sachs remained a scourge in the Jewish community. Since then, in a victory of community willpower over genetic destiny, a concerted push for early testing has virtually eradicated the disease reducing the number of Ashkenazi children born with Tay-Sachs from 60 per year, to 3 to 5 per year.
But while the incidence of Tay-Sachs among Ashkenazi Jews has fallen, a host of genetic disorders still threatens the community, necessitating genetic screening.
We need to plan and be proactive about it, said Estie Rose, a genetic counselor with JScreen, an Atlanta-based nonprofit that offers testing and education.
In 2008, the U.S. Senate named September Tay-Sachs Awareness Month, but Tay-Sachs is only one of the genetic diseases for which Ashkenazi Jews are more likely to carry a recessive gene. (A recessive gene, as opposed to a dominant one, is expressed only when inherited from both parents.)
According to Rose, about 75 percent of those with Ashkenazi Jewish heritage carry a recessive gene for at least one of a number of genetic conditions. Besides Tay-Sachs, the most common include Gaucher disease, cystic fibrosis, familial dysautonomia and Canavan disease. (According to the Jewish Genetic Disease Consortium, there are also various genetic diseases that are more prevalent among Sephardic Jews.) One in 30 Ashkenazi Jews carries the gene for Tay-Sachs, while among the general population, 1 in 300 is a carrier (the number is also high among those of Cajun descent).
While a recessive gene does no harm, a child with Tay-Sachs is more likely to be born to a couple who are both Ashkenazi Jews.
Its really only a problem if the person youre having a child with has the same gene, explained Mary Norton, an MD and professor of perinatal medicine and genetics at the University of California, San Francisco.
The reason Ashkenazi people are more likely to carry the Tay-Sachs gene is interwoven with the many calamities in the history of the Jewish people. Think the Crusades; think the Holocaust; think the Spanish Inquisition, Rose said. The size of the community shrunk, then it regrew.
For genetics, such circumstances exemplify a population bottleneck and the founder effect. In laypersons terms: Many Jews were killed at various times in history, leaving a smaller pool of genes to replenish the population. Also, Jews in Europe were endogamous, meaning they tended to marry other Jews.
The mutations become copy and pasted over and over and over again, Rose said.
Tay-Sachs was discovered toward the end of the 19th century, and even back then its prevalence among Ashkenazi Jews was noted.
The most common form becomes noticeable in infants around 6 months old. Symptoms include reduced vision and an exaggerated startle response, and then progress to slow growth, listlessness, neural degeneration and seizures by age 2, with death coming by age 5. The disease has no cure.
A carrier of a genetic disorder may have no family history of the disease or have the disease themselves. Pregnancy is often the first time many people get tested to see if they are carriers for a range of genetic disorders. Some dont get tested at all.
JScreens mission is to encourage people not to wait until pregnancy to get tested.
Thats what Rose did, and it changed her life. While in college, she and her partner got tested to see which genetic disorders they carried. It turned out they were both carriers for cystic fibrosis, a life-threatening disease. If shed had children with her then-partner, they could have faced some tough choices.
We decided to break up and avoid all of those things, she said.
Today, as a genetic counselor, Rose helps couples consider their options when faced with similar scenarios. She said JScreen tests for 225 diseases and works closely with the primary health care provider and genetic counselors.
I can serve my own community, which is really important to me, she said. The Jewish community unfortunately faces a lot of genetic health issues.
About 75 percent of those with Ashkenazi Jewish heritage carry a recessive gene for at least one of a number of genetic conditions.
Rose said if a pregnant couple finds they both carry the same disease gene, the next step is to test the fetus. If the fetus has the disorder, the couple has to choose whether or not to carry the baby to term. Even better is to do the testing before pregnancy, Rose said: In case there is a problem, they have more options.
The couple can explore IVF (in which each embryo can be tested before implantation) or egg donation, or they may decide not to have children or even go their separate ways, as Rose and her then-partner did.
Sophia Pesotchinsky is all in favor of testing before pregnancy. Her daughter Vera, 49, has Late Onset Tay-Sachs, a rare form of the disease.
The Pesotchinskys came to the Bay Area from Russia in 1976. Vera later developed motor function problems that turned out to be the first signs of LOTS. Sophia had never been tested to see if she was a carrier, neither in Russia nor here in the U.S. when she was considering having more children. Thats a huge oversight, she said.
If people have come from a different country, they have to be asked, Did you have that test? she said.
Thats particularly true for people who come from the former Soviet Union. Very often they didnt know they had Jewish roots, she pointed out.
Sophia said it took more than a decade to diagnose Vera (along the way, Sophia was told that her daughters problems, ranging from slurring to klutziness, came from having an overbearing immigrant mother). Vera, who earned an MBA from Santa Clara University and a BA from Wellesley College, is currently in a wheelchair and cannot live alone, but mother and daughter are active in patient advocacy through the National Tay-Sachs and Allied Diseases Association.
JScreen isnt the only Jewish organization trying to get people to screen early.
New York-based Dor Yeshorim screens potential couples in the Orthodox community by running tests for over 50 diseases. According to their most recent quarterly report, of more than 9,000 people who have used the service, 120 were found to be genetically incompatible.
Like JScreen, Dor Yeshorim advises people to get tested well before pregnancy. When a match is suggested its time for a compatibility check. Dor Yeshorim, rabbanim and experienced shadchanim urge everyone to check compatibility before a couple or the parents meet to avoid unnecessary heartache! the site says.
To that end, Dor Yeshorim often tests at Orthodox schools. JScreen works with Hillel and Birthright, Rose said.
Advances mean that genetic tests once reserved for Ashkenazi Jews can now be accessed by the population at large, further reducing the likelihood that children will be born with a disease like Tay-Sachs.
Tests used to cover only 25 or so gene disorders, but now hundreds can be identified.
Rose said its important to test no matter what ethnicity you are. While Ashkenazi Jews have their own set of risks, other ethnic groups have theirs. You never know what a test result will bring, Rose noted.
We all have things we dont know about our family history, she said.
Go here to see the original:
Work remains on Tay-Sachs and other Ashkenazi genetic disorders J. - The Jewish News of Northern California
- BENITEC BIOPHARMA INC. Management's Discussion and Analysis of Financial Condition and Results of Operations (form 10-Q) - Marketscreener.com - February 13th, 2023 [February 13th, 2023]
- CENTOGENE to Participate in Upcoming Conferences in February in the Lead Up to Rare Disease Day - Marketscreener.com - February 7th, 2023 [February 7th, 2023]
- Gene | Definition, Structure, Expression, & Facts | Britannica - January 27th, 2023 [January 27th, 2023]
- New gene therapy delivers treatment directly to brain - January 27th, 2023 [January 27th, 2023]
- Indian Pharma Congress: Gene-cell therapy, preventive medicine future of health care, says expert - Economic Times - January 25th, 2023 [January 25th, 2023]
- A blood test that identifies people at higher risk of miscarriage? Thats the goal of this award-winning Rutgers med student. - The Philadelphia... - January 19th, 2023 [January 19th, 2023]
- Gene Therapy: Genes As Medicine | Pfizer - January 6th, 2023 [January 6th, 2023]
- How Genomics will ensure a risk-free and beneficial treatment for good health and well-being - The Financial Express - December 28th, 2022 [December 28th, 2022]
- Regenerative Medicine Advanced Therapy Designation | FDA - December 18th, 2022 [December 18th, 2022]
- 3576 - Gene ResultCXCL8 C-X-C motif chemokine ligand 8 [ (human)] - November 23rd, 2022 [November 23rd, 2022]
- Study identifies new gene that drives colon cancer - EurekAlert - October 17th, 2022 [October 17th, 2022]
- Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke | European Journal of Human Genetics - Nature.com - October 17th, 2022 [October 17th, 2022]
- The challenges of translating CRISPR to the clinic - Labiotech.eu - October 17th, 2022 [October 17th, 2022]
- Editas Medicine Presents Preclinical Data on EDIT-103 for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa at the European Society of Gene... - October 17th, 2022 [October 17th, 2022]
- 'We have to find a way': FDA seeks solutions to aid bespoke gene therapy - BioPharma Dive - October 17th, 2022 [October 17th, 2022]
- Mathematical model could bring us closer to effective stem cell therapies - Michigan Medicine - October 17th, 2022 [October 17th, 2022]
- Approval, Commercialization Highlighted at Cell & Gene Meeting on the Mesa - Genetic Engineering & Biotechnology News - October 17th, 2022 [October 17th, 2022]
- CANbridge-UMass Chan Medical School Gene Therapy Research in Oral Presentation at the European Society of Gene and Cell Therapy (ESGCT) 29th Annual... - October 17th, 2022 [October 17th, 2022]
- Depression Treatment: How Genetic Testing Can Help Find the Right Medication - Dunya News - October 17th, 2022 [October 17th, 2022]
- The Risk-Reward Proposition for CGT Clinical Trials - Applied Clinical Trials Online - October 17th, 2022 [October 17th, 2022]
- Precision Medicine Could Get Even More Precise With Allarity Therapeutics Next-Generation Diagnostics - Benzinga - October 17th, 2022 [October 17th, 2022]
- Decibel Therapeutics Receives FDA Clearance of IND Application for DB-OTO, a Gene Therapy Product Candidate Designed to Provide Hearing to Individuals... - October 17th, 2022 [October 17th, 2022]
- Time for your medicine: unlocking the power of our body clocks - The Guardian - October 17th, 2022 [October 17th, 2022]
- Replay establishes distinguished Scientific Advisory Board of genomic medicine and cell therapy experts - Yahoo Finance - October 17th, 2022 [October 17th, 2022]
- Scientists Reappraise the Role of Zombie Cells That Anti-aging Medicine Has Sought to Eliminate - Neuroscience News - October 17th, 2022 [October 17th, 2022]
- Forge Biologics Announces Updated Positive Clinical Data in RESKUE, a Novel Phase 1/2 Gene Therapy Trial for Patients with Krabbe Disease - Business... - October 17th, 2022 [October 17th, 2022]
- Gene Expression Signatures Are Analyzed for Biomarkers of Response in HCC - Targeted Oncology - October 17th, 2022 [October 17th, 2022]
- NHS England World-first national genetic testing service to deliver rapid life-saving checks for babies and kids - NHS England - October 17th, 2022 [October 17th, 2022]
- The proteinprotein relationship that could mend a broken heart - RegMedNet - October 17th, 2022 [October 17th, 2022]
- Study finds microprotein correlated to Alzheimers risk - Daily Trojan Online - October 11th, 2022 [October 11th, 2022]
- Passage Bio Announces Appointment of William Chou, M.D. as Chief Executive Officer - Yahoo Finance - October 11th, 2022 [October 11th, 2022]
- Gene Therapy Rapidly Improves Night Vision in Adults with Congenital Blindness - Newswise - October 11th, 2022 [October 11th, 2022]
- Scientists Discover Protein Partners that Could Heal Heart Muscle | Newsroom - UNC Health and UNC School of Medicine - October 11th, 2022 [October 11th, 2022]
- The Pros and Cons of Lentiviral and Adeno-Associated Viral Vectors - The Medicine Maker - October 11th, 2022 [October 11th, 2022]
- Insights & Outcomes: Foreign DNA, quantum potholes and relapsing fever - Yale News - October 11th, 2022 [October 11th, 2022]
- Expediting IND applications with drug master files - BioPharma Dive - October 11th, 2022 [October 11th, 2022]
- UNC School of Medicine Awarded $3 Million to Lead Study to Reduce PTSD Frequency, Severity | Newsroom - UNC Health and UNC School of Medicine - October 11th, 2022 [October 11th, 2022]
- Lineage to Present at Alliance for Regenerative Medicine 2022 Cell & Gene Meeting on the Mesa - businesswire.com - October 8th, 2022 [October 8th, 2022]
- The Next Crispr Gene Editing IPO Could Be Near - Henry Herald - October 8th, 2022 [October 8th, 2022]
- 10-year CRISPR anniversary: How gene editing revolutionized medicine, and what lies ahead - Genetic Literacy Project - October 8th, 2022 [October 8th, 2022]
- Blood from a baby at birth can be gene sequenced to prevent diseases - USA TODAY - October 8th, 2022 [October 8th, 2022]
- What doctors wish patients knew about breast-cancer prevention - American Medical Association - October 8th, 2022 [October 8th, 2022]
- Growth in Cell and Gene Therapy Market - Pharmaceutical Technology Magazine - October 8th, 2022 [October 8th, 2022]
- Gene Editing Service Market 2022 : Top Players to Reflect Impressive Growth Rate till 2029: Caribou Biosciences, CRISPR Therapeutics, Merck KGaA,... - October 8th, 2022 [October 8th, 2022]
- Tip Sheet: $78 million to support new precision oncology institute, update on experimental gene therapy for herpes and the launch of Fred Hutch's new... - October 8th, 2022 [October 8th, 2022]
- Cell and Gene Therapy: Rewriting the Future of Medicine - Technology Networks - October 2nd, 2022 [October 2nd, 2022]
- Growth in Cell and Gene Therapy Market - BioPharm International - October 2nd, 2022 [October 2nd, 2022]
- CRISPR Therapeutics Announces FDA Regenerative Medicine Advanced Therapy (RMAT) Designation Granted to CTX130 for the Treatment of Cutaneous T-Cell... - October 2nd, 2022 [October 2nd, 2022]
- BioMarin Resubmits Biologics License Application (BLA) for Valoctocogene Roxaparvovec AAV Gene Therapy for Severe Hemophilia A to the FDA - PR... - October 2nd, 2022 [October 2nd, 2022]
- Fighting Breast and Ovarian Cancer With a Lupus Antibody - Yale School of Medicine - October 2nd, 2022 [October 2nd, 2022]
- This gene therapy company is testing new tech to 'switch off' diabetes and obesity with a pill - Euronews - October 2nd, 2022 [October 2nd, 2022]
- Tenaya Therapeutics to Participate in Inaugural Hypertrophic Cardiomyopathy Medical Societys 2022 Scientific Sessions - Yahoo Finance - October 2nd, 2022 [October 2nd, 2022]
- Risk of Alzheimer's dementia may be predicted with help of new tool Washington University School of Medicine in St. Louis - Washington University... - October 2nd, 2022 [October 2nd, 2022]
- Tiny Sea Creature's Genes Shed Light on Evolution of Immunity - UPMC - October 2nd, 2022 [October 2nd, 2022]
- Who will get the call from Stockholm? It's time for STAT's 2022 Nobel Prize predictions - STAT - October 2nd, 2022 [October 2nd, 2022]
- Excision BioTherapeutics Awarded California Institute for Regenerative Medicine (CIRM) Grant to Support Ongoing Phase 1/2 Trial Evaluating EBT-101 as... - October 2nd, 2022 [October 2nd, 2022]
- NeuroVoices: Emma Ciafaloni, MD, on the Vast Expansion of Innovative Approaches to Duchenne Muscular Dystrophy - Neurology Live - October 2nd, 2022 [October 2nd, 2022]
- COVID mRNA Jabs and Testing Kicked Off This Industry of Drug Development: Here's What You Need to Know - The Epoch Times - October 2nd, 2022 [October 2nd, 2022]
- Kidney resident macrophages have distinct subpopulations and occupy distinct microenvironments - University of Alabama at Birmingham - October 2nd, 2022 [October 2nd, 2022]
- Nobel Prize for medicine: the full list of winners - The National - October 2nd, 2022 [October 2nd, 2022]
- The surprising link between circadian disruption and cancer may have to do with temperature - EurekAlert - October 2nd, 2022 [October 2nd, 2022]
- The global live cell imaging market is expected to grow at a CAGR of 8.44% during 2022-2027 - Yahoo Finance - October 2nd, 2022 [October 2nd, 2022]
- Chroma Medicine Announces Formation of Scientific Advisory Board of Global Experts in Gene Editing and Cell and Gene Therapy - PR Newswire - September 20th, 2022 [September 20th, 2022]
- Ring Therapeutics Announces Issuance of U.S. Patent for its Anellovector Compositions - Yahoo Finance - September 20th, 2022 [September 20th, 2022]
- Cholesterol gene mutation: Why would a healthy 27-year-old have severe heart problems? - 69News WFMZ-TV - September 20th, 2022 [September 20th, 2022]
- Gene Therapy for Severe Hemophilia B Could Be More Cost Effective Than Current Treatments - Managed Healthcare Executive - September 20th, 2022 [September 20th, 2022]
- AVROBIO Receives Rare Pediatric Disease Designation from U.S. Food and Drug Administration (FDA) for First Gene Therapy in Development for Cystinosis... - September 20th, 2022 [September 20th, 2022]
- The Biggest CGT Breakthroughs Through the Eyes of Our 2022 Power List - The Medicine Maker - September 20th, 2022 [September 20th, 2022]
- Leading Virus Researcher to Chair UVA's Department of Microbiology, Immunology and Cancer Biology - UVA Health Newsroom - September 20th, 2022 [September 20th, 2022]
- Study Shows Genetic Link to Moving to the Beat of Music - Newswise - September 20th, 2022 [September 20th, 2022]
- Viewpoint: In the post Roe v Wade world, what changes should a biology textbook writer make to address the medical repercussions of Dobbs? - Genetic... - September 20th, 2022 [September 20th, 2022]
- Alnylam Receives Approval in Europe for AMVUTTRA (vutrisiran) for the Treatment of Hereditary Transthyretin-mediated (hATTR) Amyloidosis in Adult... - September 20th, 2022 [September 20th, 2022]
- CSL flexes gene therapy muscle with latest drug - Sydney Morning Herald - September 20th, 2022 [September 20th, 2022]
- The MIT Press releases new book on the science of the heart from cardiac expert Dr. Sian Harding - EurekAlert - September 20th, 2022 [September 20th, 2022]
- Global Pharmaceutical Contract Manufacturing Market is projected to reach a market value of US$329.7 Billion in 2032: Visiongain Reports Ltd - Yahoo... - September 20th, 2022 [September 20th, 2022]
- Alzheon Reports Industry-Leading Biomarker, Brain Preservation and Clinical Effects Following 12 Months of Treatment in Phase 2 Trial of Oral ALZ-801... - September 20th, 2022 [September 20th, 2022]
- Do You Have Lung Cancer With An EGFR Mutation? If So, The Drug Tagrisso Might Be Right For You Based On New Results From A 'Practice Changing' Trial -... - September 20th, 2022 [September 20th, 2022]
- Getting rid of unwanted transformed cells: Possible new directions in cancer therapy - EurekAlert - September 20th, 2022 [September 20th, 2022]
- Sven Kili on reconvening with the ISCT - The Medicine Maker - September 14th, 2022 [September 14th, 2022]
- Study refutes long-held belief that the Corin gene causes hypertension in African Americans - University of Alabama at Birmingham - September 14th, 2022 [September 14th, 2022]