JScreen, a nonprofit group affiliated with Atlanta’s Emory University, spent October — Gaucher Disease Awareness Month — screening Jewish students for Gaucher and other genetic conditions at U.S. college campuses with high Jewish populations.
Gaucher occurs when the body doesn’t produce enough glucocerebrosidase, an enzyme that breaks down glucocerebroside. When this fatty substance can’t be broken down, Gaucher cells get backed up in the spleen, liver and bone marrow, resulting in low blood counts, easy bleeding and bruising, and bone problems.
Although considered a rare disease, affecting one in every 40,000 Americans, its prevalence among Ashkenazi Jews — or those of mainly Eastern European descent — is about one in 450 live births. One in 12 Ashkenazi Jews carries the disease. Carriers don’t show symptoms of Gaucher but can pass the disease onto their children.
Early screening could reduce the damage caused by Gaucher, mainly for those who are more symptomatic. Available treatments can help, as long as people know more about the condition they live with, including gene therapy or enzyme replacement therapy.
Amy Blum, head of the National Gaucher Foundation, said the U.S. Food and Drug Administration has approved five treatments for the disease, with more in development. “And that’s unusual for such a rare disease,” said Blum recently told the Jewish News Service.
Jews with Gaucher normally have type 1, which has fewer neurological symptoms and is less damaging than types 2 or 3, according to Neal Weinreb, southeastern U.S. regional coordinator for the International Collaborative Gaucher Group.
“One of the mysteries is, you can have two siblings with the same mutation with very different cases,” said Weinreb, who lectures human genetics and hematology at the University of Miami’s Leonard M. Miller School of Medicine. “That’s why they need to be evaluated and followed by people who know about Gaucher.”
During October, JScreen partnered with rabbis and gynecologists to encourage engaged couples to be tested. If both partners carry the disease, they may choose to undergo pre-implantation genetic diagnosis, followed by in vitro fertilization to make sure their children will be Gaucher-free.
“Knowledge is power,” said Karen Grinzard, executive director of JScreen. “Whether you’re single, engaged, newlyweds or already parents, having the knowledge allows everyone to take steps and make informed decisions to have healthy children and live healthy lives.”