2012 Grant Awarded

The SMS Research Foundation is proud to announce that its second annual grant for $50,000.00 has been awarded to Sarah Elsea, Ph.D. Dr. Elsea is an Associate Professor of Pediatrics & Human and Molecular Genetics at the Virginia Commonwealth University School of Medicine. She identified the key gene for SMS (RAI-1) in 2003 and has focused her efforts on SMS and the further elucidation of the gene and its protein product. She has an international reputation and is the author of numerous papers dealing with SMS and other genetic issues. She currently serves as the Chairperson for the Professional Advisory board for PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome).

It is a privilege for our foundation to collaborate with Dr. Elsea and we are truly excited about her upcoming project to be funded by SMSRF.

The title of her project is “A cell culture model to detect drug-induced expression of RAI-1”.

The project has two major goals:
1. Formally determine the effect of varying doses of retinoic acid on gene expression.
2. Develop a cell culture model to test compounds for the ability to enhance expression of RAI-1.

Her novel approach will help to better understand the biochemical basis of SMS and hopefully bring us one step closer to some form of therapeutic intervention.