FD News
May 2011
Familial Dysautonomia Community News

Inside this edition of
FD News

Highlights:

- FD Awareness Day in NY & PA
- FD Gene Challenge Rebuked
- New Research Publications
- Philadelphia Bike/Walk Event
- 26th Annual FD Day
- FD Golf Outings
- 6th Annual FD Bowlathon
- Natalie's FD Softball Palooza
- Nicole's FD Bracelets
- Yeshiva University FD Article

 


Challenge to FD Gene Patent is Rebuked

While researchers funded by the Dysautonomia Foundation work to discover new FD therapies and develop a better understanding of the genetic basis of FD, other researchers  have spent significant sums of money trying to gain control and ownership of past discoveries.

"One can only wonder why any researcher would want to spend precious funds on legal battles over ownership of intellectual property, rather than on research that can lead to a better life for people with FD," remarked David Brenner, Executive Director of the Dysautonomia Foundation.

The Dysautonomia Foundation, which funded the discovery of the FD gene, has an exclusive license to the intellectual property that has enabled  FD genetic therapies and carrier screening. The Foundation's policy is to allow all researchers and all nonprofit organizations to freely use the FD gene for any FD-related research, treatment and screening programs.

A US District Court judge ruled in favor of MGH researchers Dr. Susan Slaugenhaupt and Dr. James Gusella, and rejected the third attempt by Fordham  researchers Rubin and Anderson to be credited with discovery of the FD gene.  The MGH researchers were granted patents for the FD Gene in 2008, and the Fordham researchers have repeatedly sought control over that patent.

"This represents a huge victory for the FD community, insuring that FD families can protect the free use of the FD gene and prevent anyone else from commercializing it or with­holding it from fair use," added Brenner.

"We are concerned that researchers or companies that seek control over genes, as in the Canavan or  breast cancer cases, do so in order to make a profit or prevent others from working on treatments. We simply won't allow that to be the case for FD."




Bike &Walk Event for FD
Was a Huge Success

On Sunday, April 10th, the Philadelphia Chapter of the Dysautonomia Foundation was host to an amazing event that drew over 300 participants and raised over $145,000 for FD research and treatment.
   walkers

The Path To The Cure FD Bike/Walk Tour, organized by co-chairs Rabbi Larry Sernovitz and Cindy Singer, was held in Abington, Pennsylvania. See our web site for pictures and details.   more





FD Golf Outings

Our two annual FD golf outings are about to take place. With a little bit of luck, we'll have great weather and everyone on hand will have a great time, as usual.

The 15th Annual FD Golf Classic in NY will take place in Old Westbury at the Glen Oaks Club on May 23rd.

The 8th Annual FD Golf Classic in Chicago will take place at Briarwood Country Club in Deerfield on July 25th.

Both events include a great day of golf, along with auctions, raffles, cocktails and dinner. Visit our web site to participate in or sponsor the events.

You can find a full list of upcoming events  here.




6th Annual
FD Bowlathon

On Sunday, March 17th, the 6th Annual FD Bowlathon took place at Woodmere Lanes in Woodmere, NY. With the participation of 100 bowlers and their families this event raised $30,000 for FD treatment and research.

bowl 

Lexi Sirota and Ally Kaplan, along with their families, organized the event in honor of their cousin, Scott Fass.




Yeshiva University
Torah Online Web Site
Publishes Student's
FD Article
 
"Familial Dysautonomia
and the Pursuit of
Genetic Health"

In loving memory of Michael Zauder, Yeshiva University, Stern College student Miri Mandelbaum set out to help her community learn more about FD and the need for carrier screening.

The result was a wonderful article recently published in YU's Torah Online Derech HaTevah series. Derech HaTevah is a Journal of Torah and Science, a publication of the undergraduate students of Stern College for Women.

The article is a great overview of FD history and research, and it stresses the need for carrier screening and the involvement of rabbinic leaders in the effort to reduce the number of babies born with FD.


Two States Proclaim FD Day:
New York and Pennsylvania Recognize
Importance of FD Awareness

Legislators from two of the states with the largest FD populations formally recognized the importance of FD awareness and the need for FD carrier screening. The New York State Senate and Assembly declared February 28th "Familial Dysautonomia Awareness Day" and the Pennsylvania House of Representatives declared April 10th "FD Awareness Day."

Rosenthal
NY Assembly   Member Rosenthal

Stavisky
NY State Senator Stavisky

Shapiro
PA Representative Shapiro

In both states, legislators marked the day with proclamations explaining the severity of FD, the great advances that have been made in the treatment of FD, and the need for people at risk to get screened for the FD gene.

The resolutions were sponsored by NY State Assembly Member Linda Rosenthal, NY State Senator Toby Stavisky and PA Representative Josh Shapiro.

Their efforts not only raised awareness within the New York and Pennsylvania state governments (paving the way for future funding opportunities), they also helped spread the word to the general public.

 In NY, FD families in attendance for the reading of the resolution were formally recognized on the Assembly Chamber floor.

In Pennsylvania, the resolution was presented to organizers of the Path to the Cure FD Bike/Walk Tour in Abington, PA.  

For more details, please see our news pages for the New York Resolutions and the Pennsylvania Resolution.

 

Visit our news page or follow us on Facebook for the latest updates on FD awareness.



New FD-Related
Research Publications


ast
Dr. Ast

maayan
Dr. Maayan

weil
Dr. Weil


Dr. Axelrod

Researchers funded by the Dysautonomia Foundation have recently published articles that could lead to new or improved therapies for FD.

 Gil Ast, PhD, Miguel Weil, PhD (both from Tel Aviv University) and Channa Maayan, MD (who is the Director of the Israeli FD Center) have worked together on a number of research projects. Articles on two of their projects are available online.

A team of researchers led by Dr. Ast and including Dr. Maayan published "Phosphatidylserine Increases IKBKAP Levels in Familial Dysautonomia Cells" in the journal PLoS ONE  (December 2011).

Dr. Weil, along with Dr. Maayan and Dr. Ast published  "IKAP/Elp1 involvement in cyto-skeleton regulation and implication for familial dysautonomia" in Human Molecular Genetics, (January 2012). 

Dr. Felicia Axelrod, Co-Director of the NYU Dysautonomia Center,  co-authored two new FD-related publications. Olfactory Stem Cells, a New Cellular Model for Studying Molecular Mechanisms Underlying Familial Dysauto­nomia appeared in PLoS ONE and Assessing autonomic dysfunction symptoms in children: a pilot study appeared in the Journal of Child Neurology.

You can always get  a current list of FD-related publications by visiting our web site and selecting the "PubMed Search" option in the "About FD" pull-down menu.   Or, click here.



26th Annual FD Day Conference

 

The 26th Annual FD Day Conference will take place on June 12th, 2011 at NYU Langone Medical Center. Last year's 25th anniversary event was one of our best ever, and we're looking forward to another fantastic event this year with great presentations, panels, food and fun.

The conference includes presentations on FD research and treatment, Q&A with FD Experts, and a panel presentation featuring comments from FD adults.  

Attendees will be treated to a kosher breakfast and lunch buffet,  and FD adults are invited to a private dinner. There will be plenty of entertainment for kids, as well as our special FD casino for adults. 

With over a dozen FD clinicians, researchers and social services experts, the day will be packed with valuable information. All FD families are invited to attend, but pre-registration is required. Visit our FD Day web site for details and to register.   

Featured scientific and medical presentations will be given by Horacio Kaufmann, MD, Susan Slaugenhaupt, PhD, Lorenz Studer, MD, and Felicia B. Axelrod, MD.

Special Features: During the morning coffee and continental breakfast, three resource tables will be set up with special services for FD families. A representative from Make-A-Wish will be on hand to help children with FD arrange for a special wish. Representatives from Littman Krooks will be available to set up meetings for FD families to discuss legal and estate issues that commonly affect FD families. Representatives from Clark Dodge will also be on hand to discuss financial planning concerns for families with individuals who have special needs.

 One of the high points of last year's conference was a panel of FD adults that was led by Dr. Axelrod. It included six very impressive individuals talking about their life experiences, their challenges, their families and their accomplishments. This year we'll have an all-new panel of FD adults.




Caring Kids 

softball

On April 10th, Natalie Cohen organized a fun-filled "Softball Palooza" for her mitzvah project and in honor of her sister, Frannie Cohen.

The event took place in Charlotte, North Carolina, and featured softball competitions and a raffle. This is the Cohen family's second FD event. In 2008, Frannie organized a bowlathon for her mitzvah project.

Nicole Liss of Plantation, FL did something special for her mitzvah project in honor of her friend Jack Posnack. She created and sold FD bracelets inscribed with "Believe in a Cure" to raise awareness among family and friends in her community.

liss


 

Follow us on Facebook, Twitter and YouTube for all the latest news, announcements and videos from the Dysautonomia Foundation.


2011 International FD Day
Sunday, June 12th, 2011 10AM-3:30PM
Alumni Hall, NYU Langone Medical Center
550 First Avenue, NY, NY 10016

 

Our mailing address is: 315 W 39th St., #701 New York, NY 10018 
Find us on the web at: www.famdys.org Email us at: info@famdys.org Call us at: 212-279-1066
Facebook: www.facebook.com/famdys
YouTube: www.youtube.com/famdys
Twitter: www.twitter.com/famdys
Copyright (C) 2011 Dysautonomia Foundation, Inc. All rights reserved.

We regret if the email version of this newsletter has reached you in error. We send email newsletters to individuals who have provided an email address directly to us.
We NEVER provide your email address to any third parties.  
Click here to unsubscribe. Please make sure the unsubscribe email is sent from the same account to which we sent this email.
Click here to subscribe to our news emails. Please make sure the subscribe email is sent from the same account to which you want us to send newsletter and informational emails. We respect your privacy; we do not share email addresses with any third party.