Genetics


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


‘Neverland’ Producer Searches for a Cure to Son’s Bloom’s Syndrome

By Ariella Cohen

In the press notes to the 2004 movie “Finding Neverland,” director Mark Forster ruminates on the “deep human need for illusions and dreams” and “belief in the face of tragedy.”Producer Richard Gladstein does not offer anything quite so sentimental when I ask him, about one year after the film’s blockbuster success, to muse on itsRead 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


Where to find support and assistance

CANAVAN FOUNDATION110 Riverside Dr., #4FNew York, NY 10024(212) 873-4640(877) 4-canavanfax: (212) 873-7892 www.canavanfoundation.org

info@canavanfoundation.org A volunteer, nonprofit foundation, whose goals are to support research and to educate the medical community and at-risk populations.FANCONI ANEMIA RESEARCH FUND1801 Willamette St.,Read More


Two Young Women, One Bad Leukemia

By Ross Schneiderman

In a small auditorium in the basement of the 369th Regiment Armory in Harlem, Jackie Donahue is chatting with a co-worker. A bright orange head-wrap covers her bald head and gold hoop dangle from her ear lobes. She looks happy, almost ebullient — characteristics that seem incongruous with someone in her condition.Elsewhere, in St. Paul, Minn.,Read More


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