2022 Year in Review

Research is at the heart of our mission

The mission of the SMS Research Foundation is to advance scientific research leading to innovative treatment options for people living with Smith-Magenis Syndrome (SMS). To achieve our mission the foundation started an annual grant program to fund novel but scientifically sound ideas from new and experienced researchers interested in SMS. Our goal is to create a consistent stream of available funds to facilitate the SMS research community and foster collaboration and stimulate intellectual discussion as we move the field forward towards a therapeutic intervention. Through this science, the SMS Research Foundation is committed to improving the lives of SMS individuals around the world.

Research Grant at McGill University-Dr. Wei-Hsiang Huang

Dr. Wei-Hsiang Huang’s lab at McGill University is one of the few laboratories in the world that is primarily focused on studying Smith-Magenis Syndrome (SMS). The Huang lab uses modern human cell lines and animal models, as well as cutting-edge molecular and neuroscience technologies to develop a therapy for SMS through understanding the basic neurobiology of the RAI1 protein. The first year of support from the SMSRF allowed Dr. Huang’s team to make preliminary, but exciting, discoveries in the function of RAI1. The 2022 SMSRF Research Grant helped generate an advanced animal model for SMS, which has tremendous potential for studying the developmental trajectories in brain function. This project has a high translational impact and provides a unique path towards the future development of therapeutic approaches to normalize RAI1 levels and improve quality of life for individuals with SMS.

Research Grant at Yale University Department of Neuroscience, Kavli Institute for Neuroscience- Michael J. Higley, MD, PhD/Jessica A. Cardin, PhD

A major challenge to treating and preventing neurodevelopmental disorders is understanding the complex links between genetics and behavior.  Despite identification of the gene Rai1 (retinoic acid-induced 1) as the central factor in Smith-Magenis Syndrome, we still know relatively little about how disruption of this gene alters the development and function of the brain. The Higley/Cardin lab has developed novel strategies using light microscopy to monitor or “image” the activity of millions of neurons in the brains of awake, behaving mice to investigate how patterns of neural signals, which reflect the underlying connections of brain networks, occur spontaneously or in response to sensory inputs. This research will provide fundamental insight into the function of Rai1 in the neocortex and also generate a novel experimental platform from which to evaluate potential therapies aimed at modifying brain activity and improving functional outcomes for SMS patients.

Research Grant at the University of Michigan- Michael Sutton, PhD/ Shigeki Iwase PhD

The Sutton and Iwase laboratories have a joint mission to uncover chromatin regulatory mechanisms that underlie Smith Magenis Syndrome (SMS). A complete understanding of these mechanisms will be an important guide in the development of novel treatment approaches for SMS. The Sutton and Iwase labs ongoing work uses a combination of cutting-edge technologies to identify RAI1 target genes in neurons, the degree to which these RAI1 targets are unique to human vs. rodent neurons, and how these target genes act to fine-tune synaptic function. These studies have the potential to identify new RAI1 regulated genes that could be targeted for future treatment of SMS.

Thank you for your Support!

The SMS Research Foundation has created greater urgency around the need for new and continued science investigation by raising over $1 million dollars to go toward SMS research. Additional research funding is critical in order to fund life changing treatments for this rare disorder. We want to take a moment to thank you, our generous supporters, who help ensure we accomplish our mission! In 2022, with your support, the SMS Research Foundation raised $227,000 through several fundraising events and campaigns, including our signature event, the Steps Move Science Virtual Walk. Thank you!

We are growing

In 2022 the SMSRF added two new members to our Board of Directors, Jérémie Hains-Pouliot and Jennifer Sauer. Jérémie is honored to be a member of the SMSRF Board and to promote the SMSR Foundation in Québec and Canada. Jennifer is excited to join the board and help raise awareness through fundraising.

Also in 2022, the Smith-Magenis Syndrome Research Foundation Board of Directors began the search to identify the next leader of the SMS Research Foundation. The Search Committee received more than 175 applications from candidates across the country for the Executive Director position. Over three months, the committee conducted a rigorous and thorough process of reviewing these applications and holding multiple stages of interviews with numerous well-qualified candidates. Significant consideration was given to the skills, experiences and expertise needed to successfully guide the SMS Research Foundation in its next phase of growth. After an extensive search process, led by members of the Board of Directors, an Executive Director was selected to begin in January 2023!

2023 is going to be a big year!

Announcing our New Executive Director

After an extensive search led by our Search Committee and Board, we are thrilled to announce our new Executive Director, Angela Weaver. Angela brings nearly 20 years of experience in the rare disease and nonprofit community, on both a professional and personal level. Most recently, Angela served as the Executive Director of a nonprofit that funded student scholarships and programs. Her work focused on fund development, grant writing, and strategic operations. As a parent to a child who was born with a rare disease, Angela deeply understands the urgency and need for continued research for the SMS Community. Angela’s nonprofit knowledge, leadership skills, commitment to research, and experience with the rare disease community make her an exceptional individual for the role of Executive Director. We are confident that Angela has the expertise needed to successfully guide the SMS Research Foundation in its next phase of growth.

More Big News

The National Organization for Rare Disorders (NORD) has officially approved the SMS Research Foundation to become a 2023 Platinum NORD Member Organization! NORD sets very high standards for its members and we are proud to be a partner in amplifying the voice of all those living with rare diseases. NORD members recognize the power of working together to promote shared interests, even when each group’s disease-specific missions may be different. As a member of NORD, we will have access to a network of rare disease advocacy organizations willing to share and learn from one another. Membership also includes opportunities to partner with NORD in areas that include advocacy, awareness, education, organizational growth and research. We are thrilled to join the NORD membership community!

Save the Date

Save the Date and please join us for the SMS Research Foundation’s Annual Steps Move Science Virtual Walk- September 2023

Help us spread SMS Awareness

In 2023 we are spreading SMS Awareness by featuring stories of strength from our community. We are looking for personal stories that highlight the many ways you, your SMS loved one, and/or your family/caregivers have displayed Strength with the many challenges faced by SMS. Please send your stories to jsauer@smsresearchfoundation.org.

Thank you again for your support in making 2022 an exceptional year. We remain dedicated to our mission, and excited for the big year ahead for the SMS Research Foundation and SMS Community!

With thanks,
SMSRF Board of Directors