Baylor: A little more than a year after announcing the dedication of a new center for the study of Smith-Magenis Syndrome at Baylor College of Medicine, the Smith-Magenis Syndrome Research Foundation has announced an additional $200,000 gift.
When the new program was initially launched at Baylor in September
2013, it included a five-year, $300,000 commitment to establish a
fellowship and research program.
The additional $200,000 will provide support for a graduate student
to study Smith-Magenis syndrome, which 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.
The program is directed by Dr. Sarah Elsea, associate professor of
molecular and human genetics at Baylor, and Dr. James R. Lupski, the
Cullen Professor of Molecular and Human Genetics at Baylor.
“The ability to support more trainees infuses additional creativity
into the project and increases understanding and interest in SMS that
will remain with the trainees throughout their careers,” said Elsea, who
also focuses on SMS research. “We are grateful that the SMS Research
Foundation supports these efforts in training and that they continue to
support our research goals.”
The program has a special interest in gaining a better understanding
of the function and regulation of the RAI1 gene, which has been
associated with the disease.
“The SMS Research Foundation is truly thrilled to increase our
funding commitment to the SMS Initiative at Baylor College of Medicine,”
said Dr. Christopher Iannuzzi, chair of the scientific advisory panel
of the Foundation. “We firmly believe that it will bring us one step
closer to understanding the biochemical basis of SMS and then lead to
strategies that will improve the lives of these children. We know that
supporting the laboratories of Drs. Elsea and Lupski is a critical
component of reaching our goals.”
Founded in 2010 by parent advocates, the Smith-Magenis Syndrome
Research Foundation seeks to improve the knowledge and understanding of
Smith-Magenis Syndrome so that viable therapeutic options can be
developed in order to improve the quality of life of those with the
disease.