Genetics


Blogging Through A Tough Battle

By Marc Tracy

Three young girls with juvenile Tay-Sachs — Dakota Bihn, Alexis Markowich, and Jashaia Small — are currently receiving umbilical-cord-blood therapy at Duke University Medical Center. The girls are under the care of Dr. Joanne Kurtzberg, who, as the Forward reported last year, has already performed cord-blood therapy on children with Krabbé disease.Read More


Israel Leads the Way on Stem Cells

By Joshua Yaffa

For people who suffer from familial dysautonomia (FD), hope recently came in the form of an Israeli chicken egg.Read More


Canavan Researcher Sees Future in Stem Cells

By Joshua Yaffa

As a groundbreaking clinical trial examining the use of gene therapy in treating Canavan disease winds to a close, the country’s leading researcher into the hereditary brain disorder is now looking to stem-cell therapy to treat the disease.Read More


How Do Sephardic Jews Figure Into The Genetic Equation?

By Schelly Talalay Dardashti

When Hispanic women in Colorado’s San Luis Valley were shown to carry a high frequency of the Ashkenazic breast-cancer gene, some genetic experts began to wonder.Read More


Scientists Meet To Discuss Rare Disorder

By Mark I. Levenstein

In what was the first meeting of its kind, respected neurologists from around the globe held a conference August 1 at which they committed themselves to increasing awareness of adult polyglucosan body disease, a rare genetic disorder occurring primarily among Ashkenazic Jews.Read More


Tay-Sachs Drug Trial Yields ‘Neutral’ Results

By Marc Tracy

Two clinical studies for the treatment of late-onset Tay-Sachs with Zavesca, a drug used to treat Gaucher disease, produced neutral results — “a scientific way of saying that it didn’t work,” said Kim Crawford, director of member services for the National Tay-Sachs & Allied Diseases Association.Read More


Doctor Looks to Ashkenazim in Search for Schizophrenia Cure

By Lea Winerman

Epidemiologist Ann Pulver found her research calling early. As an undergraduate at Boston University, she worked with schizophrenia patients and saw firsthand the devastation the disease can cause. She decided then to devote her career to fighting it.Read More


Ohio State Gets Bloom’s Syndrome Grant

By Sarah Rubin

Richard Fishel describes DNA-mismatch repair as the human body’s spell-check program. In most people, this surveillance system is always on, correcting thousands of errors as cells transfer information to new cells. Fishel and his research partner, Joanna Groden, are heading a major new project devoted to finding a cure for Bloom’s syndrome, a rare genetic disease that causes cells to be DNA-repair deficient, essentially shutting down the body’s natural editor.Read More


Researchers Into Lysosomal Storage Find Common Ground

By Marc Tracy

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.Read More


Step One Toward an ML4 Cure: Infect a Mouse

By Sara Rubin

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.Read More





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