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FD News
March 2009

In this issue:

Kinetin Study Underway

FD Research Conference

FD Organizations Collaborate

New Research Equipment

Foundation Updates

Group Home Initiative

FD In The News

Fundraising

In Other News...

Recent Research Publications

FD Poet


 

 
Kinetin Study Underway

 
Kinetin, 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.

 
   
 

 

Upcoming Dates

Bowl-a-thon  
March 22

Blue Genes
April 26

FD Day
June14

  Golf Classic
Long Island
June 23

 Golf Classic
Chicago
August 3
 


FD Research Conference

 
FD 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 Board.

 
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.

  
 
 
 
 

 
conf2009

 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 someone special.
 
Visit our 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 continued generosity.   

 

 
Blue Genes 2009
Blue Genes
Click on picture for details

 Foundation Updates

 
New Media

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 community.
 

 
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 the same.

 
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.

 
 

    
 
 

 Coming Soon!

The world through my eyes:
A photo exhibition for
people with FD.

 

 

 
 
Suggestions? Comments?
 
We welcome your advice. Please contact us at info@famdys.org or
(212) 279-1066
 
 
 
 
 
 
 
  
   
Tax Deductions  
 
All donations to the Dysautonomia Foundation are tax deductible to the extent permitted by law.  
 
 

 
 
 
  
 
Planned Giving


Please contact us for information on how you can include the Foundation in your estate planning, deferred giving or the donation of financial instruments.
 

 
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 info@famdys.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 www.carshelpingamerica.org

 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.
 

 
   
 
 Click picture for article

Dr. Maayan at work
 
 
 
 

Professor Pinker

 
Fundraising
 
Recent Events


Cycle Tour

 

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 pictures from the event.

 
Journal

 
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 version available.  
 

  
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 pictures from the event.  
 

  
Upcoming Events

 
2009 Fundraisers

 
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

Alyssa Joseph

 
 
  
 

 
 
 
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 partnership possible.
  

  
   
 
 
Recent FD-Related Research Publications

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.
 

 
 Charitable Contributions
 
All contributions to the Dysautonomia Foundation are tax deductible to the extent permitted by law.
 


 

 
FD Poet

 
Zak Rosen, a 15 year-old with FD, recently shared a poem he wrote for his English class about having FD.
 

F.D.

 
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

 

 
 Planned Giving
 
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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FD News is available online at www.famdys.org/WNew.php.
 FD News is published quarterly by the Dysautonomia Foundation.
Visit us on the web at
www.famdys.org.



 
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