Smith-Magenis Syndrome Research Foundation Ups Research Commitment

Video jpeg edited for Baylor

A little more than a year afteannouncing 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.  Read the full Press Release

Creation of the SMS Initiative

Check presentation

The SMS Research Foundation Board of Directors is ecstatic to announce the SMS Initiative—a 5 year commitment and collaboration between the SMSRF and the researchers at the Baylor College of Medicine. The SMS Initiative will commence on September 30, 2013 with the presentation of a $100,000 check, in person in Houston, to Dr. James Lupski and Dr. Sarah Elsea, two of the most important researchers involved in the study of Smith-Magenis Syndrome.

This is the Foundation’s largest single grant to date and the partnership marks a huge milestone for both the SMS Research Foundation and the basic science research of Smith-Magenis Syndrome. We will continue to fund their work over the next four years, with your support. This has been made possible by YOU, our partners, so we hope you will join us in celebrating the beginning of this new and exciting chapter!

SMS Research Foundation 2012 Grant

ElseaThe 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.