By Dennis Kessler,
Board Member and Former Board Chair
In 1978, our son Art
was diagnosed with "generalized dystonia." My wife, Barbara, and I were pleased
to have a diagnosis after a three-year search, but devastated to learn the
possible progression of this movement disorder. Dystonia is a condition in
which muscles contract by themselves, and they often contract too much. When
dystonia affects broad regions of the body, it is known as generalized
dystonia. Dystonia is one of the disorders more common in the Jewish
We didn't know where
to turn. Luckily we found the Dystonia Medical Research Foundation. The education and support we received from this patient advocacy group
was and remains invaluable.
In 1999, I and a few
others founded the Center for Jewish Genetics (now the Norton & Elaine
Sarnoff Center for Jewish Genetics). We founded the Center with the goal of
educating the Jewish community about Jewish genetic disorders and helping
carriers of these disorders to understand their family planning options. Later,
we added subsidized genetic screening.*
One in four
Ashkenazi Jews is a carrier of one of 19 recessive genetic disorders seen more
frequently in the Jewish population, but most do not know it. Science has now
developed ways that we can test for these 19 disorders – and many others – with
a simple saliva test. The Center’s genetic counselor delivers results to every
participant in our carrier screening program and can help carrier couples
understand their options and plan for a healthy family. Our goal is to empower
individuals with the knowledge to make informed decisions.
When the Center was
founded, there was no technology available that would allow our son Art and his
wife Wendy to be sure their natural born children would not inherit the genetic
mutation that causes dystonia. Since the time of their marriage, medical
science has developed new technology called PGD (Pre-implantation Genetic
Diagnosis) to help couples like them avoid this situation. Thanks to the work
that was done by the Dystonia Medical Research Foundation in discovering the
gene responsible for dystonia, and with the assistance of PGD, Art and Wendy
have given birth to two children who do not carry mutations in the gene
associated with dystonia.
We have stopped
dystonia from being passed on to subsequent generations in our family.
That is how the work
of the Center has changed the lives of my children and grandchildren as well as
hundreds of families. We are "Changing Jewish History," one family at a time.
It is an honor to be part of such an important endeavor.
is an autosomal dominant condition that occurs with increased frequency in the
Jewish community. Screening for dystonia is not currently available through the
Center’s carrier screening program, which focuses on autosomal recessive and
X-linked conditions. If you have questions or would like additional
information, please contact our genetic counselor.