Research is at the heart of our mission. The SMS Research Foundation knows that increased funding for research is the only way to improve the lives of children born throughout the world with this complex, congenital disorder.
It is our goal to advance the scientific understanding of this rare syndrome so that effective treatments can be developed to improve the cognitive delays and behavioral issues of those living with SMS. Families of children with SMS are faced with physical, developmental, neurological, and behavioral conditions.
Through 2015, the SMS Research Foundation has created greater urgency around the need for new and continued science investigation by raising $750,000 to go towards SMS research. New research funding is needed immediately to help these children.
Scientific Advisory Panel (SAP)
The SMS Research Foundation only funds the best, most comprehensive SMS research projects along with the best and brightest scientists focused in this area. The Scientific Advisory Panel (SAP) oversees all elements of the scientific endeavors of the organization.
With the expertise from both MD and PhD scientists, the SAP has a blue-ribbon, rigorous review process based on 5 categories: significance, investigator, innovation, approach, and environment. The panel reviews all grant applications on an annual basis and makes funding recommendations to the SMSRF Board. All grants and scientists funded update the SAP at specific intervals to ensure the organization is funding only the best opportunities and progress is being demonstrated.
Through this science, SMS Research Foundation is committed to improving the lives of children around the world.
The Baylor Initiative:
Top Science Drives Top Results
SMS Research Foundation has made a major commitment to the Baylor College of Medicine and has launched the Smith-Magenis Syndrome Research Initiative. This significant endeavor covering 5 years is designed to further basic research around the function of RAI1, the primary gene responsible for SMS. The Initiative currently provides funding to support investigation of the cellular and developmental roles of RAI1. The data generated in this project will provide significant insight into the specific roles for RAI1 in the circadian rhythm, cognitive development, growth, and developmental pathways that are all affected in individuals with SMS.
This data is required to move toward appropriately targeted therapeutic interventions to improve quality of life for persons with SMS. The first year of the Initiative led to improved understanding of the role of RAI1 in the control of body weight, satiety, and the development of obesity. Investigations focused on the circadian rhythm defect in SMS also revealed significant connections to other neurodevelopmental disorders that have similar but less severe sleep disturbances that may also benefit from these research studies. Ongoing and future studies will continue to focus efforts on RAI1 and its role in neuronal function. Skin cells donated by individuals with SMS have been used to generate induced pluripotent stem cells, which were then converted to neuronal cells to create a cell-based system to further assess RAI1 function in neurons. These studies will enhance our knowledge of the cellular pathways affected by RAI1 and will inform our understanding of neuronal function in SMS.
This is also the link to the press release:
Key Figures of the Baylor Initiative:
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).
James R. Lupski, M.D., PH.D., D.SC.
James R. Lupski, M.D., Ph.D. is a Professor in the Department of Pediatrics at Baylor College of Medicine. Lupski obtained his BA degree from New York University in 1979 and his PhD and MD degrees in 1984 and 1985, respectively, from the same institution. He later moved for his Residency in Pediatrics to Baylor College of Medicine, where he has stayed since. Lupski is affected by a genetic disease called Charcot-Marie-Tooth (CMT) and has studied the condition as part of his research. He has contributed to the discovery and definition of genomic disorders and several genetic diseases.