“People of every ethnic group can potentially be carriers of certain diseases,” explains Adele Schneider, M.D, FACMG, Director of Clinical Genetics and Medical Director, Victor Center for Jewish Genetic Diseases at Albert Einstein Medical Center in Philadelphia. “But the carriers themselves are healthy and usually have no prior family history of the disease.”

Basically, a child can only inherit a disease if both parents carry the gene mutation for that condition, and each passes it down to the child.

Here’s the good news: Simple pre-conception blood tests can now detect carriers of certain mutations and predict a couple’s chance of conceiving children with the genetic disease.  All those thinking about starting or expanding a family should assess their odds of passing on a disease because of their genetic blueprint. Certain couples, however, may have a higher than average risk.

“We now know that one in four Jewish individuals of Central and Eastern European descent from countries such as Poland, Russia, Germany, Austria, and Lithuania, is a carrier for at least one of 19 genetic diseases.  Most of these conditions strike in childhood and have no cure; all are debilitating, and in many instances life-threatening,” says Dr. Schneider.

Through the Victor Center Screening Program, adults with health insurance who are at risk for Jewish genetic diseases can now be tested at clinics nationwide for about $25. Those with Health Savings Accounts or no health insurance may obtain further information by calling the Victor Center at 877-401-1093.

So, who should get this test?

“Through interfaith marriages and adoption, people who may not identify as Jewish or are unaware of their ancestry may have unknowingly inherited ‘Jewish’ genes and be carriers of a Jewish genetic disease,” counsels Dr. Schneider. “But individuals with one Jewish grandparent should be screened, and interfaith couples also need to be tested, with the Jewish partner being tested first.”

Learn more about pre-conception tests and counseling for genetic diseases from the National Library of Medicine.

Plan Ahead with Pre-Conception Gene Tests The Saturday Evening Post

A first-of-its-kind experimental therapy featured last fall in the Medical Update http://www.saturdayeveningpost.com/2009/09/19/wellness/medical-update/hand-therapy-advancements.html is the first drug FDA-approved for treating Dupuytren’s, a condition that progressively pulls fingers toward the palm and locks them there.

The new biologic drug Xiaflex is injected into the hand  to weaken and “break” abnormal cords of connective tissue that are hallmarks of the disease, restoring full motion and function of affected hands and fingers.

“Xiaflex is an enzyme that comes from the bacterium called Clostridium histolyticum,” study investigator Dr. Thomas Kaplan explained to the Post. “In Dupuytren’s disease, multiple fibers of collagen run along the cord. When the enzyme is injected into the cord, it starts ‘cutting’ the fibers into progressively smaller fragments, weakening the cord in that section.”

Drug manufacturer Auxilium Pharmaceuticals, Inc. expects shipments of Xiaflex to reach physicians in late March 2010. In the past, conventional surgery was the only way to remove Dupuytren’s cords affecting the MP joint (where the finger meets the palm) and the PIP joint (the finger’s middle joint.)

“People with Dupuytren’s contractures that are severe enough to warrant surgical treatment finally have a nonsurgical option to correct their deformities,” reports Dr. Larry Hurst, who led the Xiaflex studies at SUNY Stony Brook where he is a professor and Chair of the Department of Orthopaedics.

Those considering Xiaflex therapy need to consult an expert to discuss the new procedure, its risks, and alternatives, adds Dr. Hurst.

Dupuytren’s contracture is most common among Caucasians (especially those of Northern European descent) over age 50 and tends to run in families.

For more information about Xiaflex and Dupuytren’s disease, click here XIAFLEX (collagenase clostridium histolyticum)| Official Site or call Auxilium at 1-877-942-3539. In the future, the Web site will also feature patient stories and an online tool to locate trained specialists in your area.

New Therapy Straightens Fingers (Dupuytren’s Disease) The Saturday Evening Post