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. The lab’s sterility is interrupted only by Dr….
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…
Bloom’s Syndrome Definition: Bloom’s syndrome is a recessive disorder characterized by growth deficiency, sun sensitivity, immunodeficiency, and a predisposition to diabetes and cancer. Genes in people with Bloom’s syndrome are more likely to mutate, causing chromosomes to break. In a survey of Bloom’s syndrome cases in Israel in the 1970s, the carrier frequency of the…
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