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.
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
- In 2017, the SMSRF launched the first-ever SMS gene therapy project in collaboration with Baylor College of Medicine and Sanofi Genzyme, a global pharmaceutical company with gene therapy and rare disease expertise.
- The purpose of the gene therapy project is to restore or enhance the critically missing RAI1 gene and reverse some of the most challenging aspects of SMS.
- In 2018, the SMSRF started an annual grant cycle to promote scientific interest in SMS. The grants are generally between $75,000-$100,000 and are seed money that can help lead to larger grants funded by the National Institute of Health.
- Researchers at the Lab for Neurodevelopmental Disorders at McGill University are leveraging molecular screening tools to identify key targets that alter RAI1 protein levels. By identifying these targets, researchers can then begin to develop drugs against these targets, with the goal of improving SMS symptoms.
- Researchers at the Kavli Institute for Neuroscience at Yale School of Medicine are studying how the disruption of RAI1 alters the development and function of the brain. A major hypothesis across many neurodevelopmental disorders is that the coordination of activity between different brain areas is disrupted, negatively affecting cognitive and emotional abilities.By imaging neocortical signals in mice lacking the RAI1 gene, they hope to identify previously unknown functional signatures of brain activity associated with SMS. They also hope to generate a novel experimental platform from which to evaluate potential therapies aimed at modifying brain activity and improving functional outcomes for SMS patients.
- In its initial years, the SMSRF funded basic research around the cellular and developmental roles of RAI1, the primary gene responsible for SMS. The data generated from this initiative provided significant insight into the specific function of RAI1 in the circadian rhythm, cognitive development, growth, and developmental pathways that are affected in individuals with SMS.
- Partnerships were established with international SMS foundations, including Pas a Pas avec Alexia in France, Smith Magenis Mexico, and Association Smith Magenis 17 in France, bringing a global focus to the progress of SMS research.
- All research projects are approved by a Blue-Ribbon Scientific Advisory Panel as a critical step towards the goal of developing treatments for Smith-Magenis Syndrome.