All,
Allow me to introduce myself. My name is Berish Rubin. I am the
Chair of the Department of Biological Sciences at Fordham University.
I became interested in studying FD after a close friend's nephew was
diagnosed with this disease. Through this child, his siblings and
cousins, I learned first-hand how the disease can ravage a child and
a family. I decided to try to see what I could do for this family.
Several months ago, I directed the research efforts of my laboratory
towards the identification of the gene responsible for FD. I am happy
to report that we have identified the gene. The immediate result of
our finding will be the establishment of a genetic test for FD. It is
with great enthusiasm that the members of my laboratory have
pursued this effort.  We are now all committed to finding out how
this defective gene is causing FD and how we can use this knowledge
to help find a cure for FD. I am sure you all share our excitement.
I will keep you informed of our progress. For your information, I have
attached below a copy of the press release issued by Fordham
University. Finally, I would like to thank Dor Yeshorim, the Committee
for the Prevention of Jewish Genetic Diseases for their support,
assistance and encouragement.
Berish

FORDHAM TEAM DISCOVERS CAUSE OF GENETIC DISORDER THAT AFFECTS
PEOPLE OF ASHKENAZI JEWISH DESCENT

NEW YORK (Jan. 9) - Fordham University researchers have identified the cause
of a genetic disease that affects one in 30 individuals of Ashkenazi Jewish
descent. The findings are scheduled to appear in the American Journal of
Human
Genetics in March.

The Fordham team of scientists used the DNA sequence decoded by the Human
Genome Project to determine the cause of Familial Dysautonomia (FD). They
found
that FD is caused by mutations in the IKAP gene located on chromosome 9.

FD is a disorder that affects a person's autonomic nervous system, which
controls
such involuntary functions as swallowing, digestion, temperature and blood
pressure
regulation. Individuals suffering from FD, which is as prevalent as the
more familiar
Tay Sachs disorder, also have problems perceiving sensations, such as pain
and heat.
This can be so severe that researchers say an FD sufferer leaning on a
boiling pot may
not feel it and could be seriously burned. The lifespan of FD sufferers is
severely
compromised and often includes long hospital stays.

"This discovery will allow people to be tested to determine whether they
are carriers
and will allow for genetic counseling," said Berish Y. Rubin, Ph.D.,
chairman of
Fordham's biology department. "Also, once the genetic basis for any
disorder is
known, it is possible to pursue a cure. That will be the next step in our
research
effort." Rubin and his research associate, Sylvia L. Anderson, Ph.D., are
the principal
authors of the paper.

Rubin became interested in studying the disorder after a close friend's
nephew was
diagnosed with FD. Through this child, his siblings and cousins, Rubin
learned first-
hand how the disease can ravage a child and a family. "I decided to try to
see what
I could do  for this family," Rubin said. "It showed me the way FD can
affect an entire
family."

The Fordham team, which consisted of two senior scientists, four graduate
students
and one undergraduate student, received support and assistance from Dor
Yeshorim,
the Committee for the Prevention of Jewish Genetic Diseases.

Founded in 1841, Fordham is New York City's Jesuit university. It has
residential
campuses in the north Bronx and Manhattan, as well as academic centers in
Tarrytown
and Armonk, N.Y.