Familial Dysautonomia, Inc. Special Bulletin
October, 2001

FAMILIAL DYSAUTONOMIA TESTING REACHES THE NATIONAL LEVEL
--Genzyme to offer testing for familial dysautonomia (FD)
--Houston area Jewish Family Services to offer FD testing during
Ashkenazi Genetic Disease screening program


GENZYME GENETICS NOW OFFERING FAMILIAL DYSAUTONOMIA TESTING

Familial Dysautonomia Hope (FD Hope, Inc.) is pleased to announce
that Genzyme Genetics is now offering familial dysautonomia
testing . Genzyme Genetics is the largest provider of genetic
services in the United States, including testing, counseling and
educational services. The test can be ordered as a stand-alone test
or part of its Ashkenazi Jewish Carrier Testing panel. Effective
October 8th, individuals wishing to be tested for familial
dysautonomia by the genetic services division of Genzyme Corporation
will be tested for both of the genetic mutations that are known to
cause FD.

While carrier testing has been available since April, 2001 from
various regional medical centers, Genzyme Genetics' offering brings
FD testing to the national level. Genzyme's services are covered by
many insurance carriers nationwide . For more information on
whether testing is covered under your specific policy, please
contact your local Genzyme Genetics representative or your insurance
carrier. For professional support to physicians, Genzyme Genetics
can be reached at (800) 255-7357.

Other labs that are currently testing for FD carrier status include:
--Albert Einstein College, Yeshiva University, Bronx, NY - 1-877-
327-5962
(both mutations);
--Baylor College of Medicine, Houston, TX - 1-713-798-6536 (both
mutations, beginning in December, 2001). Please see details below
for special testing program in Houston;
--Children's Hospital of Los Angeles, CA - 1-323-669-2271 (both
mutations);
--Dor Yeshorim, Brooklyn, NY - 1-718-384-2332 (both
mutations);
--Dor Yeshorim, Israeli Office, Rechov Strauss 21, Jerusalem 91506,
Israel
(both mutations)
--Mt. Sinai Hospital, NY, NY - 1-212-263-5746 (only one
mutation);
--New York University, NY, NY - 1-212-263-5746 (only one
mutation);

In January, 2001, two research labs announced the identification of
the mutations that cause familial dysautonomia. Drs. Berish Rubin and
Sylvia Anderson, of Fordham University, identified the FD gene as
IKBKAP, which encodes for the IKAP protein. Drs. Sue Slaugenhaupt and
James Gusella, of Massachusetts General Hospital, confirmed the same
two mutations. Papers from both research groups were published in the
March edition of the American Journal of Human Genetics.

The FD mutation follows striking founder effect genetics. The major
mutation, which occurs in 99.5% of the patients studied, causes a
problem in the splicing of the IKBKAP RNA, resulting in a deletion of
one of the protein's exons. A second, "minor" mutation causes a
single amino acid substitution in an important regulatory part of the
protein. For more information, please contact the authors:

Dr. Berish Rubin, Dept. of Biological Sciences, Larkin Hall 160,
Fordham University, Bronx, NY 10458, Phone 718-817-3642, Fax 718-817-
3645, Email rubin@....

Dr. James Gusella, Dept. of Molecular Neurogenetics, MGH East, Room
6214, 149 13th St., Charlestown, MA 02129, Phone 617-726-5724, Fax
617-726-5736, Email gusella@....

Genzyme Corporation is a biotechnology company that develops and
markets innovative products and services for unmet medical needs.
With a strong international infrastructure, including extensive
capabilities in sales and marketing, manufacturing, and regulatory
affairs, Genzyme has a successful track record of working closely
with patients and physicians.


HOUSTON JEWISH FAMILY SERVICES TO OFFER ASHKENAZI GENETIC DISEASE
TESTING, TO INCLUDE FAMILIAL DYSAUTONOMIA

Jewish Family Service of Houston is sponsoring a special screening
program for Ashkenazi Jewish genetic disorders, including familial
dysautonomia, on November 18th. The event, which will be held at the
Jewish Community Center from 10 a.m. until 3 p.m., will include
genetic screening at significantly reduced cost, genetic counseling,
as well as education on the Ashkenazi Jewish genetic disorders.
Screening for Tay-Sachs Disease, cystic fibrosis, and Canavan's
Disease will be available for a suggested minimum donation of $36.
Testing for familial dysautonomia will be available for an additional
$25. For more information on this program, please contact Mr. Donald
Wilson at Jewish Family Service, 713-667-9336.