Our Research
Research is at the heart of our mission. It is our goal to advance the scientific understanding of this rare syndrome so that effective treatments can be developed to positively impact cognition, sleep, obesity, and behavioral issues experienced by those living with SMS.
The SMS Research Foundation has created greater urgency around the need for new and continued science investigation by raising $1.5 million to go toward SMS research. Additional research funding is critical in order to fund life changing treatments for this rare disorder.
Click here for this short video which provides an overview of Smith-Magenis Syndrome and a visual introduction to the research focus of the SMSRF. This is a valuable tool available to help others understand both the syndrome and the mission of the SMS Research Foundation. Please feel free to share this in your outreach and support efforts for children and families living with SMS.
Scientific Advisory Panel (SAP)
The SMS Research Foundation funds the most comprehensive and promising SMS research projects being conducted by scientists specializing in rare diseases and genetics. The Scientific Advisory Panel (SAP) is responsible for overseeing all research grants funded by the SMSRF.
With the expertise from both MD and PhD scientists, the SAP has a blue-ribbon, rigorous review process based on five categories: significance, investigator, innovation, approach, and environment. The panel is responsible for reviewing all grant applications on an annual basis and making funding recommendations to the SMSRF Board. All grantees are required to update the SAP at specific intervals to ensure that progress is being demonstrated.
Through this science, the SMS Research Foundation is committed to improving the lives of individuals 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:
Our Progress
Since its founding, the SMS Research Foundation (SMSRF) has focused on advancing the scientific understanding of Smith–Magenis Syndrome (SMS) and accelerating the development of treatments that address its underlying biology.
In 2017, SMSRF launched the first SMS-focused gene therapy initiative in collaboration with Baylor College of Medicine and Sanofi Genzyme, exploring approaches to restore or enhance the activity of the RAI1 gene—the primary gene responsible for SMS. This effort marked an important step in moving the field beyond symptom management and toward potential disease-modifying therapies.
To expand scientific engagement, SMSRF established an annual research grant program in 2018. These seed grants have helped attract new investigators to the field, generate preliminary data, and position researchers to compete successfully for larger grants from organizations such as the National Institutes of Health.
Over the past several years, SMSRF-supported research has significantly advanced our understanding of RAI1 biology and its role in neurodevelopment, circadian rhythms, cognition, behavior, and metabolism. Researchers at leading institutions, including McGill University and Yale School of Medicine, have explored how reduced RAI1 activity disrupts brain development and function, while identifying potential therapeutic targets that may increase RAI1 expression or restore downstream biological pathways.
Recent publications have provided important evidence that restoring RAI1 activity can improve key disease-related features in SMS animal models. Additional studies have identified new biological pathways regulating RAI1 protein stability, further expanding the range of potential therapeutic approaches. Together, these discoveries have helped shift the field from primarily describing SMS to actively exploring ways to modify its underlying biology.
Recognizing this unprecedented opportunity, SMSRF is launching its 5-Year Research Roadmap, a strategic initiative designed to accelerate the path toward a first-in-human syndrome-modifying clinical trial for SMS by approximately 2030. The roadmap focuses on three core priorities: expanding the field by recruiting leading scientific experts, funding milestone-driven therapeutic research, and strengthening the patient registry and clinical infrastructure needed for future trials.
SMSRF has also built strong partnerships with international organizations, including Pas à Pas avec Alexia, Smith Magenis Mexico, and Association Smith Magenis 17, helping create a more connected global research and advocacy community.
All SMSRF-funded projects undergo review and approval by the Foundation’s Blue-Ribbon Scientific Advisory Panel, ensuring that investments are scientifically rigorous, strategically aligned, and focused on advancing meaningful progress toward new treatments for individuals and families living with Smith–Magenis syndrome.