It is with good reason that Edward Schuchman calls Niemann-Pick Disease type A a “very, very challenging disease.” The neurodegenerative disorder is rare, kills those who have it by age 2 or 3, and has no known cure. But in May, Schuchman and his research team at Mount Sinai Medical Center in New York announced a breakthrough in their work on the disease.

There are three mutations that account for more than 90% of NPD-A cases among Ashkenazic Jews. Approximately one in 80 Ashkenazic Jews are carriers of the mutations that cause NPD-A.

The mutations that cause NPD-A affect an enzyme called acid sphingomyelinase and prevent the enzyme from performing its normal function of breaking down fats. As a result, fatty deposits accumulate in the vital organs, including the brain. Although a child who has NPD-A may appear healthy at birth, symptoms from the fat buildup typically show by six months.

Forwarding the News

Thoughtful, balanced reporting from the Forward and around the web, bringing you updated news and analysis each day.

Terms(Required)

I agree to the Forward's Terms of Service and Privacy Policy

Email(Required)

The recent breakthrough came when Schuchman’s team at Mount Sinai’s International Center for Types A and B Niemann-Pick Disease successfully engineered mice with genes that express the mutant enzyme. Experiments that will attempt to enhance the activity of the malfunctioning enzyme are slated to begin in 2010. The researchers previously experimented on mice that were engineered to lack ASM, unlike human Niemann-Pick type A patients, who actually have the enzyme, albeit functioning improperly.

The new mouse, said Schuchman, “should be much more useful in research aimed at treating Niemann-Pick type A.”

There is currently no treatment for NPD-A. “We don’t yet have a therapy we think could work clinically,” Schuchman said.

Schuchman noted that an emphasis on prevention through genetic screening might have reduced the number of cases of the disease. “The Ashkenazi community is educated and aware of these diseases.” But, he added, “It doesn’t mean you stop doing research.”

The Forward is free to read, but it isn’t free to produce

I hope you appreciated this article. Before you go, I’d like to ask you to please support the Forward.

Now more than ever, American Jews need independent news they can trust, with reporting driven by truth, not ideology. We serve you, not any ideological agenda.

At a time when other newsrooms are closing or cutting back, the Forward has removed its paywall and invested additional resources to report on the ground from Israel and around the U.S. on the impact of the war, rising antisemitism and polarized discourse.

Readers like you make it all possible. We’ve started our Passover Fundraising Drive, and we need 1,800 readers like you to step up to support the Forward by April 21. Members of the Forward board are even matching the first 1,000 gifts, up to $70,000.

This is a great time to support independent Jewish journalism, because every dollar goes twice as far.

—  Rachel Fishman Feddersen, Publisher and CEO

2X match on all Passover gifts!

$90 → $180 $180 → $360

$360 → $720

Other amount