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
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
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
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
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
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
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
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
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
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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