Research Being Conducted to Combat Disorder That Strikes About One in Every 2,500 Ashkenazi Jews
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Research Being Conducted to Combat Disorder That Strikes About One in Every 2,500 Ashkenazi Jews

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Research efforts are underway to combat Gaucher’s disease, a little known progressive and as yet incurable inherited genetic disorder that strikes approximately one in every 2,500 Ashkenazi Jews, according to Marilyn Baumel, press manager at the department of public affairs for Mount Sinai Medical Center here.

An estimated one in every 25 Jewish people are otherwise healthy carriers of the recessive disease causing gene. When two carriers have children, there is a one in four chance that a child will receive the recessive gene from each parent required to cause the disease. In the New York metropolitan area alone, more than 1,000 Ashkenazi Jews suffer from Gaucher’s, and over 120,000 are carriers of the Gaucher gene.

Patients with Gaucher’s disease lack sufficient amounts of glucocerebroside, an enzyme needed to break down and eliminate a particular fatty substance in cells. The result is a rapid proliferation of abnormal blood cells containing the fatty substance, which accumulate within the spleen, liver, bone marrow and lung causing symptoms which include anemia, increased susceptibility to infection, abnormal blood clotting and bone pain and fractures, Baumel said.


Research is currently being conducted to develop methods to identify carriers and strategies to treat the disease. One approach now seeks to inject a supplemental amount of the enzyme, glucocerebrosidase, obtained from human placenta, into the body to replace the missing enzyme, according to Dr. Robert Desnick, director of Mount Sinai’s Center for Jewish Genetic Diseases.

Desnick explained, however, that the isolation and purification of this enzyme is a difficult and highly technical problem. To date, the preliminary trials of enzyme replacement have not proved convincingly effective. A number of hurdles need to be overcome.

Baumel described the two types of Gaucher’s disease. Patients with Type I, the “Jewish genetic disease,” may display a wide variety of symptoms and symptom severity. Some of these patients may live fairly normal lives, whole others die of the disease in their teens or during early adulthood. The infantile form of Gaucher’s, or Type 2, is severe. It strikes at four to six months of age and causes death within two years, according to Baumel.

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