About three decades ago, there was a Birmingham Jewish community screening for Tay-Sachs disease, the best known disease that is prevalent in Jews of European descent. Now, there are 19 such diseases identified, with one in four Jews carrying genes that can be passed on and, in some cases, result in children having one of these diseases.
On Jan. 13, Birmingham will be the site for a large-scale screening for the 19 diseases. The Victor Center for the Prevention of Jewish Genetic Diseases is partnering with the Birmingham Jewish Federation and Foundation, and physicians from the University of Alabama at Birmingham Department of Genetics.
The Victor Center was founded by Lois Victor, who lost two daughters to Jewish genetic diseases. The first center opened in Philadelphia a decade ago. Now there are centers in Boston and Miami, and community programs in Atlanta, Dallas, Pittsburgh, San Diego — and now, Birmingham.
The Center works in partnership with healthcare professionals, clergy and the community to create awareness about the need to be screened.
These diseases are autosomal recessive gene diseases. Genes are in pairs, one from each parent, so if someone is a carrier it means that one of the two genes has a mutation for the disease. Being a carrier does not mean one has the disease — one has to have both copies of the gene affected by the mutation.
That is why screening is essential. If both parents carry the same mutation, there is a one in four chance that the child will be affected by the disease. Each parent passes on one of the two genes to the child. If both pass on the mutation, disease follows. In half of the cases, only one parent passes on the mutation, making the child a carrier. In one-fourth of cases, the child receives the clean gene from both parents and is not a carrier.
Through the knowledge acquired by screening, the risk of having a child with any of these preventable genetic diseases can be avoided. Many of the diseases strike early in childhood, have no cure and lead to early death.
Even if both parents are carriers, there are ways to help ensure a healthy birth.
“The importance of being screened goes far beyond just finding out if you are a carrier,” said Caren Seligman, coordinator of this project. “This affects the life of an entire family. We are fortunate to be able to test for 19 known diseases that are preventable with a simple blood test. This is a critical public health issue for the Jewish community and we are proud to be partnering with the Victor Center in creating awareness and hosting a screening in Birmingham.”
The testing will be at the Levite Jewish Community Center from 11 a.m. to 4 p.m. Everyone of child-bearing age is urged to sign up for the simple blood test. Genetic counseling will also be part of the process.
The Victor Center recommends that all at-risk individuals — including interfaith couples and couples getting pregnant through donor egg/sperm — should be screened, with the Jewish partner being screened first.
And one does not need to be Jewish currently to be at risk — anyone with one or more Jewish grandparent should consider screening.
Couples should be screened prior to each pregnancy for any new diseases. Since there have been new advances in testing, the list of known genetic diseases is constantly being expanded.
The list of diseases includes Bloom syndrome, Canavan disease, cystic fibrosis, DLD deficiency, familial dysautonomia, familial hyperinsulinism, Fanconi anemia type C, Gaucher disease, Glycogen storage disease type 1A, Joubert syndrome, maple syrup urine disease, mucolipidosis IV, nemaline myopathy, Niemann-Pick disease type A, spinal muscular atrophy, Tay-Sachs, Usher syndrome type 1F and type III, and Walyer-Warburg syndrome.
Testing is not limited to Birmingham. Fern Shinbaum is organizing a bus for the Montgomery Jewish community, and there are plans for a social with the Birmingham young adults groups for after the screening.
For those with insurance, the maximum out-of-pocket cost for the screening is $25.
Pre-registration is strongly recommended here.