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South Florida Jews help unearth clues to genetic diseases
Redacted from an article By Nicole Brochu, Staff Writer
Florida Sun Sentinel
April 27, 2013|
South Florida has one of the world’s largest populations of Ashkenazis — Jews of Central and Eastern European descent — making it home to some potentially groundbreaking medical research. In Boca Raton, the Parkinson’s Disease and Movement Disorders Center is in the midst of a project, funded by the Michael J. Fox Foundation, to study local Ashkenazi Jews in the hopes of better understanding what causes Parkinson’s, and how to prevent it. ￼At the University of South Florida, a study involving Ashkenazi women from the Miami area explored cultural and religious influences on colorectal cancer.
Other recent studies have tapped Ashkenazis to learn more about the causes and potential treatments for breast cancer, pancreatic cancer, Crohn’s disease, autism and a host of other ailments. After decades of scientific study, researchers know more about Ashkenazi Jews’ genetic history than many other ethnic groups, and what they’ve discovered may appear disturbing: More than 20 genetic diseases are more common to these descendants of Central and Eastern Europeans, and many are carriers for at least one illness.
But there’s power in that knowledge.
“It’s extremely important” to be able to study a group of people with known ties to particular disorders, said Dr. Stefan Glück, a breast oncologist at the University of Miami Sylvester Comprehensive Cancer Center. “You can transpose the data studied in Ashkenazi Jews onto other patients.”
As just one example, Montreal researchers found they could successfully treat breast cancer with DNA-damaging agents by studying Ashkenazi patients then broadening the research to a wider population, Glück said.”That continues to be a very important study in the treatment of breast cancer,” he said. It is the kind of research undertaken since the 1960s and 1970s, when studies on Tay-Sachs, a deadly disease of the nervous system passed down through families, found that the disorder had an inordinately high incidence among a group known as Ashkenazi Jews.
Estimated by some historians to account for about 80 percent of the world’s Jews today, Ashkenazis trace their ancestry to the Israelite tribes of Canaan in the Middle East, whose descendants later settled in the 11th through 19th centuries in Central and Eastern Europe, in countries now known as Poland, Russia, Germany, Lithuania, Ukraine and the like.
In the years since those first Tay-Sachs studies, scores of research projects — many of them led by Jewish doctors and scientists with a natural interest in diseases afflicting their relatives — have uncovered data linking dozens of inherited diseases to gene mutations that are more common to Ashkenazis than the general population, experts say.
“We have our genetic and medical history written into our cells,” said Bennett Greenspan, president of Family Tree DNA, a Houston, Texas-based genetic testing service. “Science and technology are only now beginning to write the book.”
Ashkenazis’ genetic inscriptions, it turns out, are a function of their early ancestors’ close-knit interfamilial ties and habits, experts agree. A culturally isolated group, they married among themselves “in a damn-near exclusive way,” becoming so-called “founders” of genetic traits passed on through the ages, Greenspan said.
All of us carry some recessive genetic mutations in our cells, but like Bahamians, some Africans and other isolated groups, Ashkenazis’ early marital and childbearing patterns made their mutations more prevalent among later generations, said Dr. Deborah Barbouth, director of the Victor Center for the Prevention of Jewish Genetic Diseases at Miami Children’s Hospital.
But don’t let the laundry list of disorders fool you. It’s not that this population of Jews is more sickly than anyone else, Barbouth said. Decades of study have just revealed more about their genetics.
Potential marital candidates should really be screened for the following diseases.
(By the way Orthodox Jews have been doing this testing, in a very private mutual manner, for years, and well before the final commitment is made.) jsk
Jewish Genetic Diseases:
• Bloom syndrome • Canavan Disease • Cystic fibrosis • Dihydrolipoamide
• Dehydrogenase Deficiency (DLD Deficiency) • Familial Dysautonomia
• Familial Hyperinsullnism • Fanconi Anemia Type C
• Gaucher’s disease • Glycogen Storage Disease, Type la ;
• Joubert Syndrome • Maple syrup urine disease • Mucolipldosis IV (ML4)
• Nemaline Myopathy • Niemann-Pick Disease Type A • Spinal Muscular Atrophy
• Tay-Sachs Disease • Usher Syndrome Type IF • Usher Syndrome Type 3
• Walker-Warburg syndrome.
Other diseases prevalent among Ashkenazi Jews include Parktnson’s Torsion Dystonia, breast cancer and ovarian cancer.
(Of course, we don’t want to include familial neurosis. No one would ever get married!) jsk
Sources: Victor Center for the Prevention of Jewish Genetic Diseases plus multiple online sources
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