Jack Bear Foundation Grant Program

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. Epilepsy and abnormal reflexes exist in a subset of affected individuals. 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.

The Orphan Disease Center, in collaboration with the Jack Bear Foundation, is seeking grant applications for multidisciplinary teams of scientists that aim to further progress our understanding of the disease, the available therapeutic options, and investigating strategies to establish outcome measurements. The RFA could focus on one, or several, of the scientific topics above to further advance SCAR-15 research and therapeutic approaches.

The Jack Bear Foundation, in collaboration with the Orphan Disease Center, will provide a 1-year grant to support several critical components of basic, clinical and translational research on disorders associated with genetic mutations in the RUBCN gene with a particular emphasis on the topics outlined below:

Scientific Topics

• Basic understanding of canonical and noncanonical functions of SCAR-15 disease associated with the RUBCN gene
• Identification of biomarkers for RUBCN gene/SCAR-15 disease using patient samples
• Development and characterization of patient-derived cell models of SCAR-15 disease (ex. iPSCs, neurons, reporter lines)
• Development and phenotypic characterization of animal models with the RUBCN gene/SCAR-15 disease
• Development of a standardized evaluation criteria for clinical projects allowing uniformity of patients as well as the severity and progression of the disease.
• Support small animal studies or assays that investigate drug repurposing strategies.

Eligibility

_You can learn more about this opportunity by visiting the funder's website._

• We welcome applications from tenure-track faculty, non-tenure-track faculty and postdoctoral (PhD or MD) fellows; applications submitted by postdoctoral fellows must include a statement of feasibility and support from their faculty mentor.
• This opportunity is open to investigators at established academic and research institutions worldwide.
• We also welcome applications from individuals in a senior position at a non-profit institution or foundation.
• Collaboration with existing SCAR-15 researchers is encouraged but not required.