Genetics


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


Supplements Holding Hope As Treatment For Canavan

By E.B. Solomont

New research indicates that acetate supplements may be an effective therapy for Canavan disease, a degenerative and ultimately fatal disorder of the brain and central nervous system.Currently, there is no cure for Canavan disease, a recessive genetic disorder that is carried by one in 40 Ashkenazic Jews. Canavan patients have a mutation of theRead 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


Gene Therapy Holds Hope for Disease

By Valerie Silverman

In the budding field of gene-therapy, a number of diseases and areas of the body have undergone tests and treatment — but not, until recently, the brain.Canavan patients are the first human beings to receive gene therapy in the brain, and not only has this new form of gene therapy greatly surpassed past efforts at such treatment in CanavanRead More


‘Movement for Life’: One Woman Strives Against Gaucher

By Deborah Gopstein

Suzanne Krupskas’s patients say that she is the best physical therapist they’ve ever seen. She’s better than most, they say, because she has a unique perspective that helps her empathize with her patients. After all, Krupskas has been coping with her own physical pain for more than 20 years.Krupskas has Type 1 Gaucher disease, the mostRead More


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