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Canavan Researcher Sees Future in Stem Cells
As a groundbreaking clinical trial examining the use of gene therapy in treating Canavan disease winds to a close, the country?s leading researcher into the hereditary brain disorder is now looking to stem-cell therapy to treat the disease. Dr. Paola Leone, director of the Cell & Gene Therapy Center at the Robert Wood Johnson Medical…
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How Do Sephardic Jews Figure Into The Genetic Equation?
When Hispanic women in Colorado?s San Luis Valley were shown to carry a high frequency of the Ashkenazic breast-cancer gene, some genetic experts began to wonder. Subsequent investigations showed that the women in question were likely the descendents of conversos fleeing the Inquisition, who settled in the region late in the 16th century. A number…
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Scientists Meet To Discuss Rare Disorder
In what was the first meeting of its kind, respected neurologists from around the globe held a conference August 1 at which they committed themselves to increasing awareness of adult polyglucosan body disease, a rare genetic disorder occurring primarily among Ashkenazic Jews. The nine-person scientific and medical advisory committee of the Adult Polyglucosan Body Disease…
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Tay-Sachs Drug Trial Yields ‘Neutral’ Results
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. According to Crawford, Actelion, which produces Zavesca, will not…
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Doctor Looks to Ashkenazim in Search for Schizophrenia Cure
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. Now, as head of the epidemiology-genetics program in psychiatry at Johns Hopkins University, Pulver is doing just…
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Ohio State Gets Bloom’s Syndrome Grant
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…
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Researchers Into Lysosomal Storage Find Common Ground
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….
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Step One Toward an ML4 Cure: Infect a Mouse
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. The lab’s sterility is interrupted only by Dr….
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Is Intermarriage the Answer?
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…
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New Fanconi Genes Found
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. The newly discovered genes, called FANCJ and FANCM, are involved in the process of DNA repair and inch scientists closer to an understanding of F.A. Researchers suspect that a…
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Alleged Slur Casts Spotlight On Senator’s (Jewish?) Roots
When Senator George Allen of Virginia used a racial slur for dark-skinned North Africans, “macaca,” during a recent encounter with a young Indian American cameraman from his opponent’s campaign, many wondered where he had learned the word. Macaca means “monkey,” but Allen’s campaign insisted that the word was made up, an inside joke on the…
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