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
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.
Board President, Phelan-McDermid Syndrome Foundation