Genetics


Truckers Spread Message of Niemann-Pick Awareness

By Jacob Savage

With their stereotypically gruff demeanor, truck drivers are not often known for their charitable efforts. But in Fort Atkinson, Wis., truckers are playing a key role in raising public awareness of Niemann-Pick disease, a debilitating genetic disorder that often kills its victims before they reach adulthood.W & A Distribution Services, aRead More


How a Young Woman Copes With a Rare Genetic Disorder

By Sarah Givner

‘My gums are peeling,” said a 22-year-old Elli Resnick to her mother as she removed a piece of salmon-colored flesh from her mouth.Other clues had been tipping off Resnick that she might be ill: She suffered from frequent bloody noses, always had a “potato chip feeling” in her mouth and, because she couldn’t eat salad, believed she hadRead More


San Francisco To Get a Genetics Center

By Talia Bloch

Four years ago, Michael Rancer, an administrator at the University of California, Berkeley, lost his son to familial dysautonomia, a rare genetic disorder found among Ashkenazic Jews that causes the nervous system to deteriorate. Today, Rancer is one of the prime movers behind a proposed new center for Jewish genetic diseases in San Francisco thatRead More


NEWS AND ADVANCES IN BRIEF

By Shoshana Olidort

When clinical trials began two years ago for treatment of Late Onset Tay-Sachs with the drug Zavesca, the trial was scheduled to last one year, with a possible 12-month extension. But because LOTS is such a rare disease, with only 200 known cases nationwide, researchers at New York University’s School of Medicine and the University Hospital ofRead More


Drug May Prolong Lives of Tay-Sachs Babies

By Shoshana Olidort

For the first time ever, infants with Tay-Sachs disease may have a fighting chance at prolonging their lives.In July, the pharmaceutical company Actelion approved a contract for clinical trials of the drug Zavesca for treatment of infants with Tay-Sachs disease. The proposal marks the first clinical trial ever to involve infants suffering from theRead More


NYU Move To Offer 16 Tests Ups the Ante for Screening

By Talia Bloch

In September, New York University Medical Center will become the first medical facility in the country to offer Ashkenazic Jewish couples tests for 16 inheritable genetic diseases, an expansion from the nine tests it offered until a year ago. Welcomed by some in the medical community as an advance in patient care, the move is prompting others toRead More


Mixed-heritage Family Deals With Genetic Tragedy

By Shoshana Olidort

When Rachaeli Fier uttered her first word — abba, or father — her parents had no idea it would be her last. Rachaeli was born a perfect baby girl, a “designer baby,” as the hospital’s delivery staff called her. Now, Eric and Nicole Fier watch helplessly as Rachaeli spirals downward in rapid, steady regression. Two-and-a-half-year-oldRead More


Breast Cancer Test Patent Causing a Furor

By Karen Iris Tucker

An American firm’s new European patent on a screening test for a genetic mutation that causes breast cancer has created an uproar among geneticists in Israel and Europe, who say the patent raises ethical questions because it targets Ashkenazic Jews.The firm, Myriad Genetics, of Salt Lake City, Utah, was granted the EuropeanRead More


Zebrafish Provide Key to Unlocking Secrets of Fanconi Anemia

By Mark I. Levenstein

The zebrafish, an inch-long fish indigenous to the Ganges River in East India and Burma, is proving to be a useful animal for understanding Fanconi Anemia.Drs. John Postlethwait and Tom Titus of the University of Oregon’s Institute of Neuroscience told the Forward that they have almost completed mapping the protein sequence of the lastRead More


Gene Found for Dystonia-related Disorder

By Mordechai Shinefield

Scientists have unlocked the gene responsible for a rare and debilitating genetic disorder.Rapid-onset dystonia-parkinsonism, or RDP, is a rare genetic disorder whose sufferers share symptoms with both dystonia and Parkinson’s disease. In an article published in the July 21 issue of the neuroscience journal Neuron, a research team detailed itsRead More





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