New Niemann-Pick Mouse Engineered

By Michael Casper

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.Read More

In Druze Genes, a Look Back at the Distant Past

By Nathan Jeffay

Who knew that Israel’s Druze had been holding a key to understanding an important dimension of human history?Read More

Plaintiffs in Breast Cancer Gene Suit Hope To Overturn Patent Policy

By Nadja Spiegelman

‘If you walk out into the street and tell someone that a company owns their genes, they’ll look at you strangely,” said Barbara Brenner, executive director of Breast Cancer Action. “But that is exactly what has happened.”Read More

After Late-Onset Tay-Sachs Trial Is Pulled, Parents Pull Together

By Joy Resmovits

Perhaps it’s the urgency of Tay-Sachs that brought parents to action when a pharmaceutical company allowed a promising clinical trial to languish.Read More

Living With LOTS, S.F. Woman Won’t Let Disease Win

By Joy Resmovits

Conventional wisdom dictates that runners, like most athletes, improve with experience. A promising freshman cross-country runner might become the school track star by senior year.Read More

New Program Targets Persian Jewish Disorders

By Talia Bloch

The United States recently got its first genetic screening program targeting a non-Ashkenazic Jewish community.Read More

Daughter Inspires Dad’s Quest for Cure

By Joy Resmovits

Dakota Jean Bihn started dropping things at age 3. That’s how Ohio accountant Ken Bihn begins telling the story of his daughter, a tale that has led him down the unexpected path of starting his own foundation.Read More

For Author, Memoir Sparks New Conversation

By Marissa Brostoff

Depending on how you look at it, Masha Gessen’s “Blood Matters” (Harcourt) is either an unusually philosophical memoir of a cancer diagnosis or an unusually personal account of the complex ethical questions surrounding the issue of genetic testing. Gessen writes about the restrictions, official and unofficial, that have been placed on people’s access to information that some believe could destroy them.Read More

Methuselah’s Children

By Talia Bloch

‘It’s important to be calm, not to get excited. It’s not good for the heart,” centenarian Fred Feuerberg said. “And I never ate much. I never overate.”Read More

Milder Canavan Strain Opens New Possibilities

By Lana Gersten

When Carly White was an infant, her parents, Jim and Dolores, noticed that she had trouble controlling the movement of her eyes. Three years later, a ballet teacher observed that Carly did not have much control over her legs. Trips to the pediatrician yielded no answers, but a visit to a neurologist ended in a diagnosis of low muscle tone, a condition that often results in delayed motor skills and trouble with coordination.Read More

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