Smith-Magenis Syndrome (SMS) is a rare neurodevelopmental disorder that results from a missing piece of genetic material on the 17th chromosome. This deleted portion includes the RAI1 gene, which causes many of the features we commonly see in SMS, including intellectual disability, early onset obesity, an inverted sleep cycle, self-injurious behaviors, and craniofacial anomalies, among other concerns. 

The SMS Research Foundation is a 501(c)(3) nonprofit organization founded in June 2010 by SMS parents who saw a significant gap in professional awareness, treatment knowledge, and research funding for SMS. The mission of the Foundation is to fund research leading to innovative treatment options for those living with SMS. Your support helps us move one step closer to finding answers to this complex disorder and create a brighter future for SMS individuals and their families.

Learn More About the Reseach Projects Funded by the SMS Research Foundation With Your Support!

Dr. Wei-Hsiang Huang’s lab at McGill University is one of the few laboratories in the world primarily focused on studying Smith-Magenis Syndrome. The Huang lab uses modern human cell lines, animal models, and cutting-edge molecular and neuroscience technologies to develop a therapy for SMS through understanding the basic neurobiology of the RAI1 protein. With support from the SMSRF, the Huang lab is currently studying the neuroanatomical distribution of Rai1 in different species and cell types. The goal is to establish a cross-species platform to interrogate Rai1 function and test different treatments, aiming to improve the quality of life for individuals living with SMS. 

At the Michigan Neuroscience Institute, researchers are focusing on how Rai1 disruption alters the development & function of the brain. With continued support from the SMS Research Foundation, they are using single-cell RNA sequencing (scRNAseq) to extend their previous work by profiling RAI-regulated genes in different human cell types as they differentiate into mature neurons. They expect these studies to reveal key genes and molecular pathways dysregulated by the loss of RAI1 that can then be targeted for future treatments for SMS.

Learn more about our current and past research projects-RESEARCH