Genetics


Who Gets Tested for BRCA, and Why?

By Adam Marcus

Many Jewish women of Ashkenazi origin face an increased risk of inherited breast and ovarian cancers, the result of mutations in two genes that became relatively common to Eastern Europeans. Women with bad copies of either gene, called BRCA1 and BRCA2, have a lifetime risk of breast cancer that approaches 85%. Their overall risk of ovarianRead 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


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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