Genetics


Ohio State Gets Bloom’s Syndrome Grant

By Sarah Rubin

Richard Fishel describes DNA-mismatch repair as the human body’s spell-check program. In most people, this surveillance system is always on, correcting thousands of errors as cells transfer information to new cells. Fishel and his research partner, Joanna Groden, are heading a major new project devoted to finding a cure for Bloom’s syndrome, a rare genetic disease that causes cells to be DNA-repair deficient, essentially shutting down the body’s natural editor.Read More


Researchers Into Lysosomal Storage Find Common Ground

By Marc Tracy

Earlier this year, the Lysosomal Storage Disease Research Consortium awarded its first seven grants, which together total more than $200,000, to scientists conducting research into ameliorating the effects of lysosomal-storage diseases on the central nervous system. There are more than 40 of these diseases, called LSDs, including Tay-Sachs, Gaucher disease, mucopolysaccharidosis (MPS) and Niemann-Pick disease.Read More


Step One Toward an ML4 Cure: Infect a Mouse

By Sara Rubin

To the untrained eye, the basement-level laboratory at the National Institutes of Mental Health, in Bethesda, Md., looks like a scene out of NASA. Scientists sport full-body plastic suits, hair nets and blue booties — all in an effort to keep the outside world’s contaminations at bay.Read More


Is Intermarriage the Answer?

By Rebecca Spence

At one point in the 1970s, genetic counselors adopted a radical stance on the issue of intermarriage: They routinely advised Jews who carried the genetic mutation that leads to a rare neurological genetic disease found in the Ashkenazic population to marry non-Jews. Their logic was that if a carrier bore offspring with a non-Jew, the likelihood of the child inheriting the genetic mutation would be greatly reduced.Read More


New Fanconi Genes Found

By Eric Herschthal

Two new genes related to Fanconi anemia were discovered in August 2005, bringing to 11 the number of genes identified as having links to the disease.Read More


Where To Go for Support and Help

Here you will find a list of places to go for support and help.Read More


Poll Finds Most Are Ignorant of Gaucher

By Elisha Sauers

In a recent telephone survey, researchers presented the following set of symptoms to hundreds of hematologists and oncologists from around the world: A 42-year-old man has complaints of chronic fatigue and bone pain, while suffering from a low blood-platelet count and an enlarged liver and spleen.Read More


Dutch Team Investigates Cancer Risk

A team of researchers with the University of Amsterdam Academy Medical Center has rejected the notion that Jewish genetics are at the root of an increased risk of cancer among sufferers of Gaucher disease.Read More


Annual Guide to Jewish Genetic Diseases

The Forward presents this section to provide information on some of the more serious Jewish genetic diseases. There are about 20 “Ashkenazic diseases,” not counting the higher rates of at least four cancer-related genes. The diseases are more prevalent in the Eastern European Jewish population because of centuries of endogamy — literally, “marrying within.”Read More


San Francisco To Get a Genetics Center

By Talia Bloch

Four years ago, Michael Rancer, an administrator at the University of California, Berkeley, lost his son to familial dysautonomia, a rare genetic disorder found among Ashkenazic Jews that causes the nervous system to deteriorate. Today, Rancer is one of the prime movers behind a proposed new center for Jewish genetic diseases in San Francisco thatRead More





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