Genetics


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


Cord Blood Transplants Eyed As Therapy for Some Diseases

By E.B. Solomont

In a medical development with potentially far-reaching effects, researchers have transplanted cord blood into newborns with a rare genetic disease, preserving their brain development and performing a life-saving treatment for babies with a fatal genetic disorder.Scientists from Duke University Medical Center and the University of North Carolina atRead More


Scientists Seek New Crohn’s Treatments

By Mordechai Shinefield

Researchers are exploring two possible new treatments — one in trials, the other still speculative — for Crohn’s disease, a genetically linked digestive-tract disorder suffered by an estimated 500,000 Americans, mostly Jews of Ashkenazic descent.Discovered by Dr. Burrill Crohn in 1932, Crohn’s, which is similar toRead More


Surgery Promises Relief for Dystonia

By Ethan Porter

When Peter Cohen entered a public swimming pool recently, he was greeted with several rounds of applause. Cohen is not a person whom one would normally expect to be met with such a reception; he has never been an Olympian, nor has he ever held public office.Merely attempting to move about freely in a pool was regarded as heroic, because, as isRead More


DNA Bank Dilemma: Who Owns the Data?

Two years ago, the Israeli company Genomica embarked on a comprehensive and unprecedented study in which DNA samples were collected from thousands of patients to build a private DNA bank for the purpose of finding new disease-causing genes.The establishment of the private DNA bank caught the Health Ministry off guard; no public debate had beenRead More


Oncologist Seeks To Develop Vaccine Against Pancreatic Cancer

By Nancy Sokoler Steiner

When Elizabeth Jaffee was studying to become a doctor, back in the 1980s, her uncle was diagnosed with pancreatic cancer. Yet even with her medical knowledge, “there was nothing I could even suggest,” said Jaffee, whose uncle passed away three months later. “The fact that there’s no hope bothers me more than anything.”Now Jaffee isRead More


Little Girl’s Affliction Sparks Flowering of Creativity

By Deborah Gopstein

In the close-knit community of Greenmeadow, Calif., a 2-year-old girl diagnosed with a rare Jewish genetic disease cannot talk, but her spirit speaks loudly enough to touch many people beyond her neighborhood.There is no cure for the disease afflicting Sophia Herzog-Sachs, who was diagnosed with Niemann-Pick Type A in early 2002 and whose lifeRead More


Doctors Find Fanconi Link to Pancreatic Cancer

By Ross Schneiderman

There is some bad news for those carrying genes that can lead to Fanconi anemia, a rare blood disorder.Recently, a team of scientists at Johns Hopkins Kimmel Cancer Center found that three genes linked to Fanconi anemia play a role in pancreatic cancer, one of the most lethal forms of the malignancy.The study, directed by Dr. Scott Kern,Read More


‘Daylight Breaks’ for Canavan Boy

By Max Gross

Jordana Holovach is tenacious.In the first few minutes of “As Daylight Breaks,” a documentary about Holovach, 33, and her 7-year-old son, Jacob Sontag, Holovach reads aloud the first page of her journal.“November 19, 2002,” the pretty, blond-haired Holovach says, without betraying any emotion. “My Jacob — my beautifulRead More


Models Open Door for Gaucher Cure

By Deborah Gopstein

A team of scientists at the Weizmann Institute of Science in Rehovot, Israel, recently solved the three-dimensional structure of glucocerebrosidase, the enzyme whose deficiency causes Gaucher disease.As a result of this development, new therapies for Gaucher patients may become available soon. The development was reported in JulyRead More


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