Jewish Genetic Diseases

As researchers decode DNA, new findings and procedures bring hope to sufferers.

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The first therapeutic protocols are now being developed. “At Hadassah, we’ve started treating patients with the hereditary kidney disorder, Fahey’s disease,” says Dr. Bach. “It, too, is caused by an enzyme deficiency. By injecting our patients with the missing enzyme, we’re solving many of the disease’s problems.”

Which brings Dr. Bach full circle: As a medical student at Hadassah 25 years ago, he identified the defective enzyme in Hunter’s disease, where malfunction causes a damaging accumulation of sugars in brain and other tissues.

“It was because I found the Hunter’s enzyme that I decided to specialize in genetics,” says Dr. Bach. “To me, it was a very exciting field. I had no idea, of course, what lay ahead.”

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