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Published: October 25 2013

Sarah H. Elsea Ph.D. Vice Chair of Molecular Genetics at BCM FT. LAUDERDALE, FL – With new funding support from the Smith-Magenis Syndrome Research Foundation based in South Florida, Baylor College of Medicine in Houston, Texas will establish a new center focused on expanding research into this complex genomic disorder.
 
The center will be named the SMS Initiative sponsored by the SMS Research Foundation at BCM. The Foundation will contribute $300,000 over five years to establish a fellowship and research program.
 
The program will enable trainees (graduate students or postdoctoral fellows) to learn, develop and focus research efforts on Smith-Magenis syndrome, with special focus on the function and regulation of the RAI1 gene which has been associated with the disease.
 
Smith-Magenis syndrome is a genetic disability that affects many parts of the body. Individuals with the syndrome may have mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, obesity, sleep disturbance and behavioral problems.
 
“We are thrilled to have this new center that focuses on basic research targeted toward this complex syndrome. It will help to answer some very difficult questions, provide better understanding of the molecular pathology behind Smith-Magenis syndrome and we hope will lead to therapeutic interventions for individuals with this disorder,” said Dr. Sarah Elsea, associate professor of molecular and human genetics at BCM (www.bcm.edu/genetics/index.cfm?pmid=24519).
 
Elsea and Dr. James R. Lupski, the Cullen Professor and Vice Chair of Molecular Genetics at BCM, will help direct the program.
 
“The need for organizations such as the Smith-Magenis Syndrome Research Foundation to support the ever declining research funding base is incredibly important to advance our understanding of rare disease,” said Elsea. “We commend the efforts of the Foundation and appreciate the trust and confidence they have placed in us to push knowledge forward in this area.”
 
 The funding provided over the next five years will support critical research efforts, will train the next generation of scientists about Smith-Magenis syndrome and intellectual disability, and will provide the necessary support to lead us to a higher level of understanding about the developmental effects of the genetic abnormalities that result in the disease and its association with other intellectual disability syndromes, Elsea said.
 
"This partnership is a huge milestone for the Foundation and for the research of Smith-Magenis syndrome,” said Missy Longman, president and co-founder of the SMS Research Foundation based in Ft. Lauderdale, Florida. “It is something we have been working towards since we started fundraising four years ago. We are thrilled. It is only the beginning of what we envision will become an aggressive pursuit of solutions that will improve the quality of the lives of everyone affected by SMS, directly and indirectly.”

“With this new funding and center, we will advance our understanding of the function of this important gene,” said Lupski. “This is critical to move toward appropriately targeted therapeutic intervention.”  

The SMS Research Foundation was co-founded by president, Missy Longman from Ft. Lauderdale, Florida and vice president Jennifer M. Iannuzzi of Wilton, Connecticut.  Missy’s oldest daughter, Sienna, was diagnosed with Smith-Magenis Syndrome at 4 weeks old after having open-heart surgery.  Jennifer’s daughter Sydney was diagnosed with SMS at the age of 2.  Missy and Jennifer both recognized the paucity in the amount of clinical research being performed for SMS and decided to form The SMS Research Foundation in June of 2010.  The mission of this 501(c)(3) non-profit organization is to support research to improve the knowledge and understanding of SMS so that viable therapeutic options can be developed in order to improve the quality of life of those with SMS.

The next major event to benefit The SMS Research Foundation is “A Night of Laughter” slated for November 13, 2013, which will be held at the Improv Ft. Lauderdale in the Hollywood Hard Rock Seminole Casino.  Doors open at 6:00 pm and the show will begin at 7 pm.  Tickets and sponsorships are still available and can be purchased by visiting www.smsresearchfoundation.org or by calling (203) 450-9022.