Two new SETBP1 research projects funded through 2021 Million Dollar Bike Ride grants

Austin, TX — March 1, 2022 – In June of 2021, Team SETBP1Strong participated in the Million Dollar Bike Ride (MDBR) hosted by the Penn Medicine Orphan Disease Center (ODC). MDBR brings together over 750 cyclists and volunteers to ride virtually or physically on Penn’s campus to raise funds for rare disease research. Noting that 100% of the funds raised go toward the awarded pilot grants, with no overhead taken out. The ODC secures philanthropic donations that are used to match, dollar for dollar, the funds raised by the cyclist teams.

For the 3rd year in a row, SETBP1 Society’s application qualified for participation in the MDBR and received grant funding from the ODC for SETBP1-focused research. SETBP1 haploinsufficiency disorder or SETBP1-HD, is a very rare genetic neurodevelopmental disorder caused by a loss-of-function mutation in one of the two copies of the SETBP1 gene. The one copy of the SETBP1 gene does not produce a sufficient amount of SETBP1 protein for the body to function normally. SETBP1-HD is characterized by moderate to severe speech impairment which can present as Childhood Apraxia of Speech (CAS), motor developmental delay, a wide range of intellectual functioning (from normal IQ to severe ID), hypotonia, and behavior challenges which can be due to attention issues and/or autistic traits/autism spectrum disorder (ASD) .

When SETBP1 Society was created, the mission was to create visibility into the ultra-rare world of SETBP1-HD for diagnosed families but also to promote global discussion and fund research. With this recent grant, SETBP1 Society is able to realize this mission by splitting the 2021 MDBR SETBP1 grant funds evenly among two worthy researchers, Dr. Vanessa Fear, a senior researcher at the Telethon Institute for Kids in Perth, Australia, and Dr. Jerome Baudry, a molecular biophysicist and professor at the University of Alabama, Huntsville. Both will be actively working to provide the tools necessary to uncover potential targets for therapeutics in the future.

Dr. Fear’s study will utilize CRISPR gene editing and neuronal disease modeling to identify SETBP1-HD disease-specific molecular pathways, facilitate understanding of disease mechanisms, and identify potential cellular targets for treatment. In addition, SETBP1 variants of uncertain significance (VUS) will be assessed as disease pathogenic or benign. With a growing number of individuals in the SETBP1-HD community with VUS, Dr. Fear’s work will look to identify if some of these VUS variants cause SETBP1-HD or another SETBP1-related disorder.

For the first time in the history of SETBP1 genetic research, Dr. Baudry and his doctoral student, Maher Mansur, have used supercomputers to create a 3D model of the gene structure. In his recent interview with the University of Alabama in Huntsville, Dr. Baudry shared the significance of this work, “It is very important because it is the starting point of virtually every modern drug discovery campaign.” Their work will allow software to analyze how different molecules would work as drugs to treat SETBP1-related diseases.

For more information about the SETBP1 Society: https://www.setbp1.org

Learn more about Dr. Vanessa Fear: https://www.telethonkids.org.au/contact-us/our-people/f/vanessa-fear/

Learn more about Dr. Jerome Baudry: https://www.uah.edu/science/departments/biology/people/faculty-staff/jerome-baudry

Read recent UAH Press Release announcing Dr. Baudry’s grant: https://www.uah.edu/news/items/grant-helps-baudry-lab-research-protein-s-interactions-in-so-called-orphan-diseases

For more information, press only:
Kelsey Bennett
402-619-8695
info@setbp1.org