The Jack Bear Foundation, in partnership with the Orphan Disease Center, University of Pennsylvania, is now accepting applications for the 2025 Grant Program to support critical research on SCAR-15, a rare degenerative genetic disorder linked to mutations in the RUBCN gene.
This grant will provide up to $100,000 for innovative research aimed at advancing our understanding of SCAR-15 and exploring therapeutic options.
Background
Spinocerebellar Ataxia Recessive Type 15 (SCAR-15) is a rare degenerative genetic disorder impacting the cerebellum, which is characterized by early-onset progressive loss of coordination of hands, gait, speech, eye movement, dysarthria, and developmental delay. SCAR-15 is inherited in an autosomal recessive manner and can be caused by homozygous or compound heterozygous mutations in the KIAA0226 (or RUBCN gene). Today there are only a handful cases of SCAR-15 reported in literature, and around a dozen cases in the world are known to the Foundation. However, given that the RUBCN gene was only recently upgraded to a causative disease gene in 2021, it is likely that this condition is underdiagnosed in the general population.
Grant details:
Deadline for Letters of Interest (LOI): April 18, 2025.
More information and application process: https://www.orphandiseasecenter.med.upenn.edu/grants/bloomsyndromegrant-4lc9n-pyyp7