FD Gene Patent
Researchers funded by the Dysautonomia Foundation have been formally
recognized for the discovery of the FD gene. On June 17 and
August 5, 2008 the United States Patent and Trademark Office (USPTO) issued
patents for the identification and methods of detecting the familial dysautonomia gene.
The patents were awarded to Dr. Susan Slaugenhaupt and Dr. James Gusella
of Massachusetts General Hospital. These patents represent an important
acknowledgement of their groundbreaking work for discovery of the
FD gene and for providing the basis for FD genetic screening.
the early 1990s, the Dysautonomia Foundation took on the mammoth task of funding research
to find the gene that causes FD. The goal was achieved in 2001; since that
time, this discovery has enabled researchers to not only develop a carrier
screening test for FD, but also to begin the difficult tasks of
understanding the function of the gene, creating an animal model of the
disease, and developing FD genetic therapies.
Dysautonomia Foundation is proud of its long history of sponsoring
research projects and treatment facilities that
have led to important advances in the care of FD. These advances have
resulted in dramatic increases in life expectancy and quality of life for FD
patients. The Foundation is especially proud of its dedicated researchers
and doctors whose work is the basis for virtually every FD research project
that has been conducted to date.
June 7th 2009
Grant Helps Fund FD Clinical Research
Dorothy B. Hersh
Foundation awarded $210,000 to the Dysautonomia Foundation for
FD research equipment. The Hersh Foundation, a
philanthropic organization based in New Jersey, provided the grant for the purchase
of medical and diagnostic equipment for the FD Research
Laboratory at NYU.
This is the third
such grant from the Hersh Foundation since 2004, and we are extremely pleased
that they continue to recognize the unique value the
Dysautonomia Center has in the FD community. Previous grants
funded the acquisition of specialized equipment that allows
doctors to evaluate many autonomic functions. The current grant
will provide funds for the purchase of specialized equipment for
ongoing FD clinical research studies. Dr. Horacio
Kaufmann, Director of the FD Research Lab, will use the
equipment to obtain extremely precise measurements of a wide
range of autonomic parameters.
The Dysautonomia Foundation
has been awarded grants from corporations,
philanthropies, government offices and local civic and
If you know of a grant program that would consider
funding FD research or treatment, please let us
Upcoming FD Research Conference
The Dysautonomia Foundation's 2008 FD Research Conference will take
place September 18th and 19th in New York
City. Experts in the field of FD will come together to share
ideas about current and future directions for basic science
research related to FD, including animal models, genetic
therapies and the function of IKAP/elongator.
Details about the conference can found at
This year�s research conference will focus on basic science
projects. In 2009, the Dysautonomia Foundation will sponsor a
research conference focusing on clinical research issues.
Since our last research conference, there have been
exciting developments on a number of FD-related research projects
including mouse models and kinetin.
The 23rd annual FD Day conference took place on June
Approximately 150 doctors, patients and family members of people
with FD attended to hear presentations on FD research and
treatment, and to participate in Q&A sessions with many of the
world�s foremost authorities on FD.
In the morning, doctors and researchers gave presentations on
the latest in FD care and research. Presentations included
results from recent clinical and basic research projects, plans
for the use of new FD therapies and a review of the use of
existing drugs and other supportive therapies for the management
of FD symptoms. A list of speakers and abstracts of the
presentations can be found at
In the afternoon, the presenters were joined by several other FD
experts for question and answer sessions which were conducted in
small groups, allowing every family member a chance to ask
questions about current and future FD research and treatment
In addition to fabulous balloon decorations,
there was a magician, a balloon artist, a photo favors booth and
an airbrush t-shirt booth to entertain children and young
adults. New this
year, the entertainment program also included a casino room set
up for teens and young adults (complete with a professional
black-jack dealer, roulette wheel and real slot machines), and
theater-style movies for kids of all ages. Photos from the day�s
activities can be found at
next FD Day
will be held on
June 7th 2009
Finding Fun in Fundraising
Scott Fass, a 28-year-old man with FD,
has been the inspiration for three FD Bowl-a-thons.
This year, Scott�s cousins, Amanda Oppenheim and Cori Sirota,
organized the Third Annual Long Island FD Bowl-a-thon and signed up nearly
100 bowlers to
participate and solicit sponsors for the event.
Through raffle sales and sponsorships, the event
raised over $30,000. Cori�s brother Jared organized the
first two Long Island bowl-a-thons in 2006 and 2007. The three
events, all of which have been held at Woodmere Lanes in
Woodmere, NY, have raised a total of over $125,000.
Frannie Cohen, a young lady with FD,
and her friend Madison Madrazo, both from North Carolina, are organizing
a bowl-a-thon for their mitzvah project. If you can�t make it to
Carolina Lanes, you can participate by sponsoring a bowler. It�s
easy to support Frannie and Madison right now by sponsoring them
. This event was inspired
by another young lady with FD, Simi Steiner, who organized an FD
bowl-a-thon for her mitzvah project in December 2008.
FD Golf Outings
There have been three FD golf outings since May, and all have
been great successes with fantastic weather. 140 golfers
gathered on June 17th for the Twelfth Annual FD Golf
Classic at Meadow Brook Club in Jericho, New York. Paul Wexler,
Steve Fass and Paul Sunderland co-chaired the all-day event,
which included brunch, 18 holes of golf, dinner, cocktails and
an auction and raffle with fabulous prizes.
In Long Grove, Illinois, over 90 golfers attended the Fifth
Annual Dysautonomia Foundation Golf Classic on July 28th
at Hillcrest Country Club. Since its inception in 2004, Gregg
Meyers has organized the event, which includes golf and dinner.
Adam Posnack coordinated a new FD Golf Benefit
at National Golf Links in Southampton, New York on May 13th and
14th. It was a fantastic event featuring two days of golf and an
overnight stay in one of the country�s most exclusive golf
Participants at all three golf events
had a great time while helping to raise vital funds for FD
treatment and research. The Dysautonomia Foundation is grateful
to all the participants and organizers of these events for their
Get Ready to Ride
The Fifth Annual FD Cycle Tour will be
held on October 12, 2008. With 25-mile and 50-mile routes,
raffle prizes and new collector�s edition FD cycle jerseys, this
event gives riders a chance to enjoy the Northeast�s finest fall
foliage while riding through Westchester County,
NY. For those of you who do not ride, you can still enjoy the
foliage and festivities by volunteering to help out on the day
of the event and cheering on the riders as they cross the finish
Please support the event by sponsoring a mile marker or
sponsoring a rider. Rumor has it that Dr. Felicia Axelrod and
Dr. David Feldman will be among this year�s participants; you
can sponsor them online. Visit www.fdcycletour.org for
Cori, Amanda and Scott Fass
Madison and Frannie
If you would like to help
organize a bowl-a-thon, a golf outing or any fundraising
event in your area,
please contact us at (212) 279-1066 or
Golfers at Meadow Brook Club
Cyclists at the 2007 Tour
FD People in the News
NYU Physician, a quarterly publication of the NYU
School of Medicine, featured Dr. Felicia B. Axelrod in the
Summer 2008 issue. The article highlights Dr. Axelrod�s
career-long dedication to FD and her current research into the
potential kinetin has for FD treatment.
a PDF of the article.
FD Research Fellowship
The Department of Neurology at NYU School of Medicine
has established a fellowship program at the Dysautonomia Center.
Alejandra Gonzalez-Duarte, MD is the first to join the research
team at the Center in this position. She comes to the Center
following a NeuroAIDS Fellowship at Mount Sinai School of
Medicine and will collaborate with the team to pursue their
goals in research and care.
Donor Wall Reception
The beautifully designed Wall of Giving has been
erected and is now on display at the Dysautonomia Center at the
NYU Langone Medical Center. The wall recognizes the generous
donors who helped establish the new FD professorship and
supported the creation of the new Dysautonomia Research
The endowed professorship, named in honor of Dr.
Felicia B. Axelrod, was awarded to Dr. Horacio Kaufmann in
October 2007. Along with the Carl Seaman Family Professorship,
awarded to Dr. Axelrod in 1990, these are the only two such
professorships in the world endowed specifically for the study
Our sincerest gratitude goes out to everyone who funded
the professorship and made all of the recent improvements to the
Center possible, and we invite all who donated to a reception at
the Center on September 9, 2008 from 4-7pm.
Greeting Card Contest!
The Dysautonomia Foundation is excited to
announce another greeting card artwork contest. We invite everyone to submit
inspiring, uplifting, creative artwork for a new series of FD
greeting cards. This is your chance to have your creation
transformed into a greeting card for special occasions.
The winners' submissions will be featured in an upcoming edition
of FD News. Please send submissions to
Donate Your Car
Did you know that you can contribute to the
by donating your car?
A car donation provides you with a tax deduction for the
full sales amount, and the Dysautonomia Foundation
receives a substantial portion of the cash proceeds.
Call Cars Helping America
at (866) 949-3668 or visit
Please be sure to specify the Dysautonomia Foundation as your charity of
Please contact us for information on how you can include
the Foundation in your estate planning, deferred giving
or the donation of financial instruments.
All contributions to the Dysautonomia Foundation are tax
deductible to the extent permitted by law.
Carrier screening for Jewish genetic diseases (JGDs)
has been steadily increasing. Through the work of the
Jewish Genetic Disease Consortium (www.jewishgeneticdiseases.org) and other organizations
focused on JGDs, more people than ever are being screened for
these diseases, which include FD and ten other diseases that
affect the Ashkenazi Jewish population. About 20% of the people
screened find out they are a carrier for one or more of the
JGDs. With the increased rate in testing, awareness about JGDs is increasing, and �carrier� families are learning about
how to avoid the risk of having a child with a JGD.
There is a new way to perform genetic
testing using saliva instead of blood. This method opens the
door for easier genetic screening. It is the hope that with the
increased ease of the process, even more people will opt to be
tested. If you or someone you know is of Ashkenazi (eastern
European) Jewish descent, carrier screening is essential for
family planning. Contact the Dysautonomia Foundation or the
Jewish Genetic Disease Consortium
for more information.
The First Annual Real Abilities: NY Disabilities Film
Festival is taking place September 21st - 23rd. The
festival promises to open discussion about living with
disabilities and to celebrate the lives of people affected by
such challenges; it is sponsored by the JCC and UJA.
precautions that people with disabilities should take to prepare
for an emergency situation. The Department of Aging,
the Mayor�s Office for People with Disabilities and the Office
of Emergency Management has published a brochure for seniors and
people with disabilities. Such helpful tips include a list of
what should be on hand in the event of a crisis and numbers to
call for help. View a copy by going to:
Get Tested for FD and other Jewish Genetic
There are 11 Jewish genetic diseases*. 1 in 5 Ashkenazi
Jews is likely to be a carrier of one or more.
The chart below indicates the
carrier frequency for each of these diseases in the
Ashkenazi Jewish population.
Disease Type 1
||1 in 14
||1 in 25
||1 in 25
||1 in 27
||1 in 40
Storage Disorder Type 1a
||1 in 71
||1 in 81
||1 in 89
||1 in 90
||1 in 100
||1 in 120
|*Autosomal recessive diseases -
each parent must be a carrier of the trait for the same disease in
order for there to be a risk of having a child with that
Help the Dysautonomia Foundation when you surf the web
or shop online
purchase required; just start your search from their site. On
your first visit, please select Dysautonomia Foundation as your
GoodSearch to search the internet,
and they'll make a donation to
Shopping online? Start at
iGive, and they'll donate a portion of your
purchase payments to the Foundation. There's no cost to you, and
you can shop at all your favorite sites, including
Best Buy, iTunes, Barnes & Noble, Staples, Home Depot,
Saks, and hundreds more! On your first visit, please select
Dysautonomia Foundation as your cause.
Please contact us at
Recent FD-Related Research Publications
Each of the following research publications includes at least
one author who has been funded by the Dysautonomia Foundation.
Goldstein DS, Eldadah B, Sharabi Y, Axelrod FB.
Cardiac sympathetic hypo-innervation in familial dysautonomia.
Clin Auton Res. 2008 Jun;18(3):115-9. Epub 2008 May 22.
David Cheishvili, Channa Maayan, Yoav Smith, Gil Ast and Aharon
IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia
patients results in down regulation of genes involved in
oligodendrocyte differentiation and in myelination.
Human Molecular Genetics, 2007, Vol. 16, No. 17 2097�2104
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