Five researchers studying SHANK3 and its role in Phelan-McDermid Syndrome and autism spectrum disorders have been awarded travel grants to attend the Society for Neuroscience meeting in Washington, D.C.

The $1,000 grants cover travel, hotel and meals at the annual meeting in November for students and postdoctoral fellows presenting work related to PMS or SHANK3, the gene implicated as the cause of PMS and autism. The Phelan-McDermid Syndrome Foundation chose the winners Sept. 30.

“We are extremely proud to present these grants to such outstanding researchers,” said Susan Lomas, president of the Foundation. “Their study of SHANK3 shows promise that we will gain a deeper understanding of the gene and its role in shaping the lives of those with Phelan-McDermid Syndrome.”

The winners are:

-- Orion Furmanski, Ph.D., Johns Hopkins University School of Medicine: Studying pain responses in mutant mice, Furmanski found SHANK3 mutant mice exhibit decreased behavioral responses to long-lasting painful stimuli, but normal responses to brief stimuli. Future studies will examine the function of brain and spinal cord pain processing regions in SHANK3 mutant mice.

-- Mehreen Kouser, University of Texas Southwestern Medical Center: This team behaviorally characterized a novel mouse model of autism through deletion of the SHANK3 gene. Their mice show deficits in two out of three core features of autism: Decreased communication and increased repetitive behaviors whereas no social or learning disabilities were found.

-- Patrick Redman, Ph.D., Picower Institute, Massachusetts Institute of Technology: Redman says little is known about the precise role of the three SHANK protein members in regulating synaptic function. By studying the synapse after removing specific SHANK family members, his team has learned how each SHANK family protein contributes to synaptic communication. The information may potentially inform new therapies for PMS.

-- Chiara Verpelli, Ph.D., CNR Institute of Neuroscience in Rome: Characterizing the role of SHANK3 in the functioning of brain synapses is the focus of Verpelli’s study. Her team will use animal models and neurons from human pluripotent cells from patients affected by 22q13 deletion syndrome and non-affected individuals to clarify the neuronal alterations underlying the syndrome.

-- Xiaoming Wang, M.D., Ph.D., Duke University School of Medicine: Wang’s research has identified many isoforms of SHANK3. To uncover the role of SHANK3 in autism spectrum disorders and PMS, the Duke team has generated isoform-specific SHANK3 exons 4-9 deletion and complete deficiency of exons 4-22 deletion mice. Data from the analysis of exons 4-22 mice will be presented at the conference. Dr. Wang is also the recipient of the first Phelan-McDermid Syndrome Foundation post-doctoral fellowship, worth $100,000 over two years.

“We are pleased to recognize, through our travel grant program, the contributions to PMS science being made by these young investigators,” said Geraldine Bliss, chairwoman of the Foundation’s Research Support Committee. “The selected projects represent exciting and diverse approaches to understanding important questions related to PMS. Moreover, nurturing the careers of promising young investigators is one of the best investments we can make to encourage scientists to enter and remain in the field of PMS research.”

The researchers will present their findings at either The Society for Neuroscience (SfN) Nov. 12-16 in Washington, D.C., or the Cell Symposia satellite meeting, Autism Spectrum Disorders: From Mechanisms to Therapies, Nov. 9-11.

The Board of Directors of the Phelan-McDermid Syndrome Foundation is pleased to announce the release of the PMSF 2010/2011 in Review Report. This report provides an overview of the most crucial developments within our organization this past year.

For many non-profit organizations, 2010 was a year of unprecedented negatives and unsettling news; however, the PMS Foundation is pleased to report a year of record achievements.

Within the reviews pages you will learn more about the programs that the foundation provides to support families, facilitate research and remain responsive to the needs of individuals impacted by PMS, including their families, educators, therapists, and medical professionals.

We believe that the best years lie ahead for the PMS Foundation and are grateful to our members, donors and employees for their ongoing confidence and support.

Click here  to download our PMSF 2010/2011 in Review.

Be Part of Our International Registry

The Phelan-McDermid Syndrome Foundation announces the launch of its International Registry. If you are a parent or caregiver to someone with PMS, then you want to be a part of building a better future.

We need your help in taking a critical step toward learning more about those affected by Phelan-McDermid Syndrome and possibly identifying promising treatments to help people with PMS experience life to the fullest.

The Registry will provide valuable information for families and doctors to make the best care decisions possible, and it will help researchers decide what are the most important challenges to address in PMS. Establishing the registry addresses two important scientific needs. First, scientists studying PMS need accurate, firsthand information to understand how PMS affects people. Second, scientists who are ready to start studies, such as those that test new treatments, will be able to access The Registry to identify people that may be eligible to participate in studies. In either case, your privacy is assured while the cause of research is advanced. While raw data about PMS will be available to scientists, they won't have access to any identifying information about your child unless you agree to have your child's identity released.

The PMS Foundation is requesting your help.

The first step is to read “Your Participation” at www.pmsiregistry.org. If you agree to be a part of the registry at no cost, indicate your consent at the bottom of the form and “register” for a login username and password. Once you create this login, you are ready to create a registry profile.

By participating, you also can help raise money for the Foundation. Go to www.pmsiregistry.org NOW to learn how $3,000 will be donated to PMSF through participation by you and others.

The Foundation and its Board of Directors believe firmly in the enormous benefits of creating this important one-of-a-kind library of information about PMS. You have told us medical and scientific research is a very important aspect of your support for the Foundation and we feel this is a key step in realizing your goal.

Please join us in making the launch of the registry a success.