Screening and Prevention of Jewish Genetic Diseases is Central Mission of Atlanta Jewish Gene Screen

ATLANTA, Sept. 15, 2011 /PRNewswire/ -- In the past, prospective parents had no way of knowing whether they were carriers of a genetic disease that could threaten the health and life of their children – until it was too late and a child became sick. For Jewish individuals of Central and Eastern European descent from countries, such as Poland, Russia, Germany, Austria, and Lithuania, the potential danger is particularly great, since one in five of these Ashkenazi Jews is a carrier for at least one of 19 different genetic diseases, many of which strike in childhood and can lead to an early death.

Today, with advances in the field of genetics, scientists have identified the gene mutations that cause these 19 inherited diseases, enabling healthy individuals who are screened before pregnancy to know whether their children may be at risk. Making screening widely available and affordable to potential carriers is the mission of Atlanta Jewish Gene Screen (AJGS), a project funded by The Marcus Foundation, and managed by the Victor Center for Prevention of Jewish Genetic Diseases, Albert Einstein Medical Center Philadelphia. AJGS is dedicated to preventing Jewish genetic diseases through high-quality and accessible education, affordable screening, and counseling.

AJGS was founded  by Atlanta couple Caroline and Randy Gold, whose daughter Eden was born in 2008 with Mucolipidosis Type 4 (ML4), a progressive and debilitating neurological disorder beginning in infancy with symptoms including muscle weakness, intellectual disabilities, retinal degeneration,  and a shortened life span. The Gold’s were screened before the birth of a healthy baby boy, who was born two years before Eden. At the time of their screening, there were 16 preventable Jewish genetic diseases identified for testing. Unfortunately Caroline was only screened for eight diseases and Randy for just two diseases. The Gold’s thought they did the right thing by being tested pre-conception. However, no one told them there were then 16 genetic diseases for which Ashkenazi Jews should be screened. No one told them that they should be screened before every subsequent pregnancy for any new diseases that have become available since their last test.  Not their Rabbi, not their Jewish primary care physician, nor their Jewish OBGYN.

Eden now receives 15 hours of therapy a week. She has been in and out of doctors' offices her entire life with surgeries as early as eight months. She is progressing, but doctors say most children with ML4 never walk or talk, have a maximum mental capacity of 18 months, go blind by age twelve and die in early adulthood. Every parent wants to watch their child grow and live a normal life, and that may not be possible for Eden's parents.

According to Caroline and Randy Gold, "We have made Eden's story public because we want to save other families from suffering this preventable tragedy. No one thinks this can happen to them, but it happened to us right here in Atlanta. If every prospective Jewish parent has one simple blood test, we can make sure Eden's story does not happen again."

Touched by their story, Atlanta philanthropist Bernie Marcus, co-founder of The Home Depot and head of The Marcus Foundation, funded Atlanta Jewish Gene Screen in partnership with the Victor Center to help ensure healthy children for the Jews of Atlanta. AJGS provides community and office screenings and counseling and educates healthcare professionals, clergy and individuals on the need for pre-conception screening with a simple blood test for all 19 genetic diseases.  

Individuals of every ethnic group may be carriers of recessive genetic diseases, with no way of knowing other than giving birth to an affected child or being tested, since their own health is not affected, and they may not have a family history of these diseases. However, Jews of Eastern and Central Europe carry a high risk for passing along any of the 19 identified and often life-threatening diseases to their offspring. These diseases range from the more familiar Tay-Sachs disease to lesser-known diseases such as Walker-Warburg Syndrome and Nemaline Myopathy. Many of these diseases are fatal, none have a cure, and only a few have limited treatment.

According to Dr. Paul Fernhoff, Medical Director of AJGS and Genetics Laboratory Medical Director at Emory University School of Medicine, "Every hereditary trait in a child – from eye color to height – is influenced by the genes that are passed from parent to child. If both parents are carriers for the same abnormal gene, there is a 25 percent chance with each pregnancy for a genetic disease to occur. That said, Ashkenazi Jews are at the highest risk of any ethnic group for carrying any of these 19 recessive genetic diseases."

A simple blood test is all that is necessary to screen for the current Jewish genetic disease panel of 19 and all at risk individuals including interfaith couples should be screened with the Jewish partner being screened first. Couples should be screened prior to each pregnancy for any new diseases, since with advances in testing, the list of known genetic diseases for which screening is available is constantly being expanded.

Recently, a new free interactive Gene Screen App was made available for anyone (Jews and non-Jews), who wants to learn about genetic diseases and their recessive inheritance patterns. The "Gene Screen" App can be downloaded from iTunes to any iPhone or iPad device.  Produced by Dolan DNA Lab in partnership with the Victor Center for the Prevention of Jewish Genetic Diseases at Albert Einstein Medical Center in Philadelphia and funded by The Marcus Foundation, Gene Screen was developed as a learning tool with a "prevalence calculator" to determine carrier frequencies of 28 specific diseases and an ancestry map that allows the user to zoom, scroll or tap to discover which genetic diseases are more common in the regions where their ancestors come from.

For more information regarding Atlanta Jewish Gene Screen, visit www.atlantajewishgenescreen.org.  To ask genetic experts about genetic diseases and how they can be prevented, visit www.jewishgeneticanswers.org.

Media Contact:  Cathy Callegari – 212-579-1370 or [email protected]

SOURCE Atlanta Jewish Gene Screen