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November PMSF symposium features Nobel Prize winner,

focuses on SHANK mutations, synaptic function




A recent Nobel Prize winner is scheduled to be the keynote speaker at the Phelan-McDermid Syndrome Foundation’s scientific symposium in Washington, D.C., Nov. 13-14. Dr. Thomas Südhof of the Stanford School of Medicine won the 2013 Nobel Prize in Physiology or Medicine for cell research.


Sudhof’s findings demonstrated how cell vesicles are held in place waiting to release signal-bearing molecules, according to nobelprize.org. Molecular signaling at cellular synapses will be a key topic of discussion at the PMS Foundation’s third symposium, titled “Synaptopathies in neurodevelopmental disorders: SHANK mutations as a window into synaptic function.”


The symposium, a satellite event of the Society for Neuroscience’s annual meeting, will feature researchers who study SHANK3 (the gene implicated in Phelan-McDermid Syndrome) and other genes that code for proteins at the synapses. Disorders of the synapse, often called synaptopathies, are a major cause of autism, intellectual disability, epilepsy and schizophrenia. SHANK3, because of its key role in the structure and function of synapses, provides important insights into the neurobiology of synaptopathies.


Despite breakthroughs in recent years, there are still questions about the basic properties and function of SHANK3 and related proteins in the brain. One of the goals of the symposium is to attract young basic scientists to the field so they can help to answer these important questions. Organizers expect 150 senior scientists, young investigators and students to attend.


Families are welcome to attend and can also participate by entering their stories in an upcoming contest. Watch your inbox and Facebook for details. Go to www.regonline.com/shanksymposium to register.


PMSF is seeking symposium sponsorships to help keep registration fees affordable for young investigators and students and to offset expenses. Sponsors can choose from various levels of support, beginning at $500 to provide a young investigator scholarship to $25,000 to be a major partner of the event at the Marriott Marquis, 901 Massachusetts Ave. NW.


For information on attendance or sponsorship, contact Geraldine Bliss at This e-mail address is being protected from spambots. You need JavaScript enabled to view it .

 

Click on News/Announcements in the Research box to the left for symposium flier, sponsorship information and more.

 


 


International 2014 Conference

By Sue Lomas
Dear Families and Friends,


It was so wonderful to see so many families from so many places at our International Conference in Orlando, Fla.

Thank you all for making the trip and for the incredible outpouring of love and friendship.I also want to thank the families who could not make it to the conference but were so enthusiastic about watching and commenting on the live streaming of sessions.

Each conference, we see how strong, resilient and caring our group is. Even with all our growth, we continue to believe and nurture our one voice, our one mission: to improve the quality of life for all of our children.
And each conference, our resolve is reinforced.

Thank you all for being part of it, part of this amazing family.

Best,
Sue
Board President, Phelan-McDermid Syndrome Foundation
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International 2014 Conference
By Barbara Cruz:

Dear PMSF Family,

I would like to offer a sincere thank you to this years conference sponsors and the team of volunteers who gave so freely of their time to make our 2014 conference a success.  Without the generosity and hard work of these individuals our conference would not have been possible.



Gratefully,
Barbara Cruz,
Executive Director
Phelan-McDermid Syndrome Foundation

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Largest number of families ever attends
Phelan-McDermid Syndrome conference


By Nick Assendelft
Vice President, Board of Directors

Outstanding. Wonderful. Enriching.

That's how many family members described their experiences at the 2014 Phelan-McDermid Syndrome Foundation International Conference in Orlando, Fla., the largest gathering ever of families affected by Phelan-McDermid Syndrome.

Click Here to Read Full Story

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HELP US REACH OUR GOAL !!


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Mission Accomplished 2013 – Challenge Accepted 2014!

On behalf of the PMSF Board of Directors we want to thank
EVERYONE that contributed in 2013 to help us exceed our
projected income goal.  As a matter of fact, we
“blew the top off” the thermometer. The goal was $277,000.
We raised $472,115! A significant portion of the funds
raised came from the Giving Challenge last year. We had no
idea  what to expect given it was our first year to participate
and the $145,000 from the Challenge (which consisted of
$90,000 in  contributions and $55,000 in matching gifts,
grants and awards)  was a huge surprise. We raised
THE MOST out of 285 non-profits.
A total of 678 contributions were made to PMSF from 40
different states and 15 countries.

This year’s Giving Challenge goal to surpass the $90,000
contributed  directly from PMSF families and their generous
networks is a lofty  goal. However, we believe it is entirely
possible. There’s no doubt  we have a lot of families and
friends of PMSF that are passionate about helping. And,
the Giving Challenge gives contributors a chance to have
their donation multiplied by a matching gift, grant or award.
It is paramount that EVERYONE contributes what they can
in 2014 so  we can advance our understanding of
Phelan-McDermid Syndrome  and potentially unlock some
of the mysteries of Autism.
Learn more about the 2014 Giving Challenge by clicking
Here:


If you are here learning more about Phelan-McDermid
Syndrome and  considering a donation I encourage you
to take a peek at the following link.  It’s an on-line brochure
with details about our research  efforts.
Click Here:
We’re embracing today and empowering tomorrow!

Please gear up for this year’s Giving Challenge May 6th and 7th.
Do what you can to help that “special someone” you know
affected by Phelan-McDermid Syndrome.

Kurt Koester – Kylie’s Dad

Urbandale, Iowa
Director/Fundraising Committee Chair

Phelan-McDermid Syndrome Foundation


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