Kinetin Study Underway
a natural compound, is being used at the NYU Dysautonomia Center in a
clinical investigation involving people with FD. Several years ago,
research by Dr. Sue Slaugenhaupt and her team of scientists at Massachusetts
General Hospital yielded hopeful results for correcting the FD splicing
defect. Kinetin is a natural compound widely used as a topical cream for its
cosmetic effects, but has yet to be used as a dietary supplement.
Over the last
several years, kinetin has undergone extensive safety testing, including a
clinical investigation involving FD parents and FD carriers. A new phase of
the clinical investigation involving adult FD patients is now underway at
the Dysautonomia Center at NYU Medical Center. The doctors hope to find
encouraging results in the way the substance changes protein levels in
blood. A positive result could point toward a future use of kinetin to slow
the degenerative effects of FD. This clinical investigation is headed by Dr.
Felicia B. Axelrod and Dr. Gold-von Simson in collaboration with Susan
Slaugenhaupt at MGH and David Goldstein at the NIH. If you are interested in
participating in this phase, or future phases of the study, please contact
the doctors at the Dysautonomia Center.
FD Research Conference
clinical and basic science researchers came together on
September 18th and 19th 2008 for presentations and
discussion on new and exciting FD-related work. Also in
attendance were members of the Foundation�s Scientific Advisory
The main emphasis
of this conference was on recent developments in FD basic
science research. Whereas applied and clinical research in FD
tends to focus on specific solutions to specific medical
problems, basic science research focuses on underlying
principles and mechanisms that can be used by clinicians and
translational medical researchers.
The goal of the conference was to encourage the exchange of
ideas, promote collaboration among the world's FD researchers
and determine the path for new research projects. Researchers
presented updates on animal models, genetic therapies and the
function of IKBKAP/elongator.
The conference brought together researchers from all over the
world, many of whom had never met face to face and had never had
the opportunity to engage in prolonged discussions about their
work. All of the researchers also had the opportunity to hear
presentations on the latest trends in clinical care from the
team at the NYU Dysautonomia Center.
Click on picture for details
FD Organizations Collaborate
The Dysautonomia Foundation Inc., FD Hope and the Israeli
Familial Dysautonomia Organization are pleased to announce that
they have agreed to jointly sponsor two important and
complementary FD scientific research projects at Tel Aviv
University in Israel over the next two years. Support will go to
Prof. Gil Ast's group in the Department of Human Molecular
Genetics & Biochemistry and to Dr. Miguel Weil's group in the
Department of Cell Research and Immunology.
Both Drs. Ast and Weil presented their work at the
aforementioned FD Basic Science Research Conference, where they
demonstrated great energy and potential for future progress.
Their research will focus on the development and
application of new in-vitro and in-vivo models to better
understand the underlying cause of the disease, as well as
investigate new therapies.
The three organizations believe that this
unprecedented joint sponsorship reflects their common commitment
to promote ground-breaking FD research to improve patients'
lives, and also serves to demonstrate how collaboration and the
pooling of resources can advance our common goals for the
benefit of the entire FD community.
The Dysautonomia Foundation is also currently funding research
projects at Harvard (Massachusetts General Hospital) and NYU.
The Foundation is currently seeking new research proposals for
basic and clinical FD research.
Support FD research and
treatment with a Dysautonomia Foundation Tribute Card.
Send a Tribute Card in honor or in memory of
website or contact us by mail. We'll send a tribute
card or a sympathy card with your personal message.
Information resources for
people with disabilities for postsecondary and higher
education can be found at disabilityinfo.gov.
Click here to visit their site.
New Research Equipment
Thanks to a grant from the Dorothy B. Hersh Foundation, the
Dysautonomia Center continues to add new equipment to the
research laboratory. The lab has now been outfitted with a CO2
monitoring system, video recording equipment and several other
devices that will increase the scope, ease and accuracy of
testing. The more our researchers are able to delve into the
most intricate details of FD, the better they are able to
develop improved therapies.
This is the third such grant over the last five years from the
Dorothy B. Hersh Foundation for equipment to be used at the NYU
Dysautonomia Center. We are extremely grateful for their
|Blue Genes 2009
Click on picture for details
We are working on an informational
video that will show what the Foundation does, feature our new
professorships, labs and treatment facilities, and showcase some
of the families in the FD community. The video will include
interviews with Dr. Axelrod, Dr. Kaufmann and other staff at the
Dysautonomia Center as well as FD families. Some parts of those
interviews will be edited into short �youtube� videos for use on
our upcoming redesigned website and other social networking
sites. We will soon be bringing our website up to date with
videos, blogs and photos. We are certain this new forum will
improve communication and, in turn, enhance our sense of
NYS Assembly Support
The Dysautonomia Foundation is once again working to obtain
funding from New York State to help support the Dysautonomia
Center at NYU. Many of you probably remember our effort to
obtain this type of funding last year, and thanks to your help,
we received an appropriation of $50,000 from the New York State
Assembly. The success of last year's appeal has encouraged us to
try again this year.
Assemblywoman Nettie Mayersohn (D - Queens, District 27),
Assemblywoman Audrey I. Pheffer (D - Queens, District 23),
Assemblyman Jeff Dinowitz (D - Bronx, District 81) and
Assemblyman Joseph R. Lentol (D - Kings, District 50) recently
supported our cause by writing a letter asking Majority Leader
Sheldon Silver to include $100,000 of funding for the Foundation
in the NYS 2009 budget.
We are also awaiting final word on an additional $125,000
appropriation for medical/research equipment. In the meantime,
we�d like to thank everyone who helped us in this effort by
calling their local representatives and encouraging others to do
Dysautonomia Foundation not Affected by Madoff Scandal
The Dysautonomia Foundation was not directly affected by the
recent Madoff investment scandal. In general, our policy is to
put every donation to work in FD treatment and research as soon
as possible. We do invest some saved funds, but we have chosen
an extremely conservative strategy. As a result, we have not
suffered as much as some other charities by the recent stock
market declines nor by the Madoff scandal. However, many of our
supporters have been affected by these recent events, and this
indirectly affects us through decreased donations. We certainly
feel for all those affected by these recent unfortunate events.
We wish everyone well in these hard economic times, and ask you
to keep the Foundation in your thoughts.
The world through my eyes:
A photo exhibition for
people with FD.
We welcome your advice. Please contact us at
All donations to the
Dysautonomia Foundation are tax deductible to the extent
permitted by law.
Please contact us for information
on how you can include the Foundation in your estate
planning, deferred giving or the donation of financial
Group Home Initiative
We are in the preliminary stages of investigating group homes
for FD adults. In December, our first survey on the topic
yielded very positive results with many people interested in
this project and wanting to know more.
If you were not part of the survey mailing and
would like to be, please send us an email at
firstname.lastname@example.org and we will
be sure to include you in future correspondence.
We plan to organize an informational session about how these
homes operate, who can qualify, and where the first homes should
be established. Because the homes will not be operated by the
Foundation, we are also investigating qualified agencies to
operate the project.
Donate Your Car
You'll get a tax deduction for the full sales amount,
and the Foundation will receive a donation from 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 choice.
FD in the News
Israeli Treatment Center Featured
On January 4, 2008 the Jerusalem Post
featured Dr. Channa Maayan�s work with the FD community and
spotlighted the center at Hadassah University in Jerusalem. The
article portrays the joys and hardships Maayan has experienced
in her life-long service to the FD community.
Additionally, the article reports that Israel�s Health Ministry
has just recently included genetic testing as part of their
covered services. This, along with heightened awareness of the
need to be tested, are two major steps in the right direction to
prevent more cases of FD in Israel.
Full article is available online.
NY Times Sunday Magazine & Colbert
Report Steven Pinker -- Human Genome Project
On January 7, 2009, the FD gene made an appearance in the
NYTimes Sunday Magazine when Harvard Psychology Professor,
Steven Pinker, partook in the Personal Genome Project and wrote
about it for the publication. Pinker, a man of Ashkenazi Jewish
background, found that, among other things, he is a carrier of
the FD trait. A finding that would have been impossible without
the work of Dysautonomia Foundation researchers� (Drs.
Slaugenhaupt and Gusella) discovery in 2001.
Full article is available online.
Professor Pinker then appeared in an interview with Steven
Colbert on the February 11, 2009 segment of The Colbert Report.
One of the first things he shared about his genetic make-up was
that of the FD trait. He also stressed the importance of knowing
about this trait for Ashkenazi Jews who plan to have children.
To see the video,
click here and when the video starts, advance to 15 minutes
and 40 seconds into the segment.
picture for article
Dr. Maayan at work
The Fifth Annual FD Tour de Foliage took place on October 12, 2008,
a crisp and sunny Sunday morning, at Pace University in Pleasantville, New York. 25-mile and
50-mile routes took the event into the afternoon for participants. The turnout was great and
the money raised (over $200,000) was even greater. We thank all those who participated,
including Dr. Felicia B. Axelrod and Dr. David Feldman. Visit our website to view
from the event.
The love, caring, kindness and generosity in the FD community was apparent once
again in the 2008 Journal Campaign. The journal will be mailed in March. Two forms
were made available to contributors this year � a print copy, like always, and a PDF
copy on CD . This CD version, as it becomes more popular, will save us on printing and
shipping costs, and will become more popular as people move toward electronic documents.
For those who like to read the book in hardcopy form, we will always make a print
High School Fundraiser
Alyssa Joseph, a student at Eastern High School in Voorhees, New Jersey, and sister
of Mitchell Joseph who has FD, recently raised money for the Dysautonomia Foundation
in a creative way. The school�s theater program put on the play Jack and the Magic
Beans. Each cast member was part of a �village family� that raised money for a
charity of their choice. Alyssa�s village chose the Dysautonomia Foundation and raised
$450 in refreshment sales. We are grateful that these young people were so thoughtful
and generous with their time, talent and money. Visit our website for
4th Annual Long Island Bowl-a-Thon, Sunday, March 22nd at Woodmere Lanes in Woodmere, New York
2009 Blue Genes Cocktail Party, Fashion Show and Auction, Sunday, April 26th at Slate in New York City.
Click for details.
13th Annual FD Golf Classic, Tuesday, June 23rd , at Meadow Brook Club in Jericho, New York
6th Annual Golf Classic Monday, August 3rd, in Long Grove, Illinois
6th Annual Tour de Foliage FD Cycle Tour, date TBA, Pleasantville, NY
Click for more pictures
Riders at the FD Cycle Tour
|Click for more pictures
24th Annual FD Day
Sunday, June 14th
NYU Langone Medical Center.
In Other News�
Rabbis on FD
The Israeli FD Treatment Center, along with a group of Rabbis from Israel,
wrote and published a book about how Halacha (Jewish law) applies to people with FD.
The Foundation will make copies available to anyone who is interested. At present
the text is in Hebrew, but we plan on producing a translation into English.
Friend of the Foundation Publishes
Dr. Stuart Ditchek, who has been involved in the treatment and care of
many children who have FD, co-authored a book, Healthy Child, Whole Child, which hit
bookstores January 27, 2009. Ditchek spent time training under Dr. Axelrod and has gone
on to practice what the book refers to as integrative pediatrics. The book offers helpful
advice for parents facing challenges from ear infections to autism.
Available on Amazon.com.
NYU Dean�s Honor Ceremony
Dr. Horacio Kaufmann was formally recognized as a tenured faculty member,
holding an endowed chair, in NYU School of Medicine on November 10, 2008 at the annual
Dean�s Honor Day. The event included the acknowledgment of all newly endowed professorships
and appointments to department chairs, as well awards for career achievement. Dean Grossman
made special mention of the Dysautonomia Foundation�s long-standing partnership with NYU
School of Medicine. David Brenner, Executive Director, represented the Foundation and
accepted a plaque on behalf of all of the Foundation�s supporters who have made this
Recent FD-Related Research
Each of the following research publications includes at least one author who has, at some point in his or her career, been funded by and/or participated in conferences sponsored by the Dysautonomia Foundation.
Simson GG, Goldberg JD, Rolnitzky LM, Mull J, Leyne M, Voustianiouk A, Slaugenhaupt SA, Axelrod FB
Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting MRNA splicing. Pediatr Res. 2008 Nov 19.
Chen YT, Hims MM, Shetty RS, Mull J, Liu L, Leyne M, Slaugenhaupt SA.
Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP. Mol Cell Biol. 2009 Feb;23(3):736-44. Epub 2008 Nov 17.
All contributions to the Dysautonomia Foundation are tax
deductible to the extent permitted by law.
Zak Rosen, a 15 year-old with FD, recently shared a poem he wrote for his English class about having FD.
Having F. D. is not easy
Always having the disease with me
Being unlike everyone else
Needing special treatments
Like a nurse giving me medicine
Having to do surgery
For my curved back, from scoliosis
A metal rod
In my back
Beeps in the metal detector
Getting painfully and excruciating headaches
Blood pressures very high and low
Making me faint
Making me vomit
Hoping for a cure
Wishing with all my might
Hoping every day
Never losing faith
Praying and hoping for that glorious day
Please contact us for information on how you can include the Foundation in your estate planning, deferred giving or the donation of financial instruments.
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News is published quarterly by the Dysautonomia
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