New center dedicated to advancing research of complex syndrome

Baylor College of Medicine and the Smith-Magenis Syndrome Research Foundation recently celebrated the dedication of a new center at Baylor focused on expanding research into this complex genomic disorder.

The center will be named the SMS Initiative sponsored by the SMS Research Foundation at Baylor. The foundation will contribute $300,000 over five years to establish a fellowship and research program.

Foundation co-founders Missy Longman and Jennifer Iannuzzi, both mothers of children with Smith-Magenis Syndrome, traveled to Baylor to participate in the dedication of the new center.

Dr. Sarah Elsea, associate professor of molecular and human genetics at BCM, in the lab with Smith-Magenis Syndrome Research Foundation founders Jennifer Ianuzzi and Missy Longman.

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.

Symptoms of Smith-Magenis syndrome

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 Baylor.

Elsea and Dr. James R. Lupski, the Cullen Professor and Vice Chair of Molecular Genetics at Baylor, will help direct the program.

Supporting research

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. “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.”

This post originally appeared on BCM Family.

-By Dana Benson

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