Genetics


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


Advances and News in Brief

By Jonathan Friedman

Cancer ScreeningThe National Prostate Cancer Coalition plans to screen more than 10,000 men across the country this year in its “Drive Against Prostate Cancer” with a mobile screening unit that will enable local physicians to administer a prostate-specific antigen blood test and a physical examination.“Studies show early detection ofRead More


‘Orphan Drugs’ Orphaned by Budget Cuts

By Ethan Porter

Advocates for sufferers of rare diseases are working to ensure passage of newly introduced legislation that would counteract a recent administrative action they say deprives those with such maladies of vital medicines.The Medicare Patient Access to Drugs for Rare Diseases Act of 2003, introduced in the House of Representatives July 10, is intendedRead More


Annual Guide to Jewish Genetic Diseases

The Forward presents this section to provide information on some of the more serious Jewish genetic diseases. There are about 20 “Ashkenazic diseases,” not counting the higher rates of at least four cancer-related genes. The diseases are more prevalent in the Eastern European Jewish population because of centuries of endogamy, literally,Read More


LOTS Sufferers Combat Ignorance as Well as Symptoms

By Rachel Zuckerman

When people find out Shirley Webb has late onset Tay-Sachs disease (LOTS), their reactions have ranged from “But you’re older than 5 years old!” to “Why are you alive?” Once, at work, someone saw her pull away from her desk in her wheelchair and exclaimed, “I didn’t know you were crippled!”At 66, Webb, a co-founder of theRead More


Drug Trial Brings Hope to Late Onset Tay-Sachs Patients

By Rachel Zuckerman

Doctors are experimenting with an oral medication known as Zavesca as a possible treatment for late onset Tay-Sachs (LOTS) disease, it was reported at a conference in Philadelphia last month.New York University School of Medicine and Cleveland University Hospital both launched trials using the drug, whose chemical name is OGT918 or miglustat, onRead More





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