Two clinical studies for the treatment of late-onset Tay-Sachs with Zavesca, a drug used to treat Gaucher disease, produced neutral results — “a scientific way of saying that it didn’t work,” said Kim Crawford, director of member services for the National Tay-Sachs & Allied Diseases Association.
Epidemiologist Ann Pulver found her research calling early. As an undergraduate at Boston University, she worked with schizophrenia patients and saw firsthand the devastation the disease can cause. She decided then to devote her career to fighting it.
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.
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.
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.
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.
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.”