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FD News
August 2008

In this issue:

FD Gene Patents

Grant Helps Fund FD Research

2008 Research Conference

FD Day News

Recent and Upcoming Fundraisers

Donor Wall Reception

Genetic Testing Update

FD Research Fellowship

Recent Research Publications


 

 
FD Gene Patents

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. 

In 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.

The 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.
 

   
 

 

Upcoming Dates

Donor Wall
Reception
 
September 9th

North Carolina
Bowl-a-Thon
September 18th

FD Research
Conference
Sept 18-19

  Tour de Foliage
Cycle Tour
October 12th

 FD Day
Conference
June 7th 2009
 


Grant Helps Fund FD Clinical Research

The 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 religious organizations.
 

If you know of a grant program that would consider funding FD research or treatment, please let us know.

 

 

 
Upcoming FD Research Conference

 
The Dysautonomia Foundation's 2008 FD Research Conference will take place September 18
th 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  www.famdys.org/conference2008.php

 

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. 
 

 
FD Day

The 23rd annual FD Day conference took place on June 1, 2008.  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 www.famdys.org/FD-Day-2008.php

 

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 projects.

 

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  www.famdys.org/FD-Day-2008-photos.php.

 

 

Our next FD Day
will be held on
June 7th 2009

 Finding Fun in Fundraising

 
Bowl-a-Thons

 
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 at: www.famdys.org/Frannie/. 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 clubs.
 

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 generous support.
 


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 line.
 
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 more details.

    
 
 


 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 info@famdys.org
 
 
 
 
 
 
 
Golfers at Meadow Brook Club
 
 
 


Cyclists at the 2007 Tour

 Of Interest

 
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. Click here for 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 Laboratory.  
 
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 of FD.
 
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 info@famdys.org

 


 
 

 
Donate Your Car

 
Did you know that you can contribute to  the Dysautonomia Foundation
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 www.carshelpingamerica.org

 Please be sure to specify the Dysautonomia Foundation as your charity of choice.
 



 
 

 
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.
 

 
 
  
 

 
Tax Deductions

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

 
Noteworthy

 

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. www.realabilities.org/
 
A new
booklet outlines 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:
http://home2.nyc.gov/html/oem/html/ready/seniors_guide.shtml
 

 
   
 

 
Get Tested for FD and other Jewish Genetic Diseases!
  
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.
  

Gaucher Disease Type 1 1 in 14
Cystic Fibrosis 1 in 25
Tay-Sachs 1 in 25
Familial Dysautonomia 1 in 27
Canavan Disease 1 in 40
Glycogen Storage Disorder Type 1a 1 in 71
Maple Syrup Urine Disease 1 in 81
Fanconi Anemia Type C 1 in 89
Niemann-Pick (A) 1 in 90
Bloom's Syndrome 1 in 100
Mucolipidosis IV 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 disease.

 
Help the Dysautonomia Foundation when you surf the web
or shop online

 
Use
GoodSearch  to search the internet, and they'll make a donation to the Foundation.
There's no purchase required; just start your search from their site. On your first visit, please select Dysautonomia Foundation as your cause.

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.
 

 
 
Suggestions? Comments?

We welcome
your advice.
Please contact us at
info@famdys.org or
(212) 279-1066
 

 
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 Razin
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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FD News is available online at www.famdys.org/WNew.php.
 FD News is published quarterly by the Dysautonomia Foundation.
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