Mission
The Orphan Disease Center will develop transformative therapies using platform technologies that can be deployed across multiple rare diseases. We will emphasize disorders with substantial unmet need independent of their incidence and will strive to assure access to patients of all populations.
Impact
Each type of orphan disease affects such a small subset of the population, so the need for research and funding in this area is largely unmet. Our Center, the first of its kind, works closely with patient groups and foundations, pharma and biotech, and the academic community. We bring a unique set of programs to the table, enabling us to add value at any stage - from building the initial knowledge base to enabling therapeutic development. Through our grants, Programs of Excellence, International Patient Registries, Jump Start programs, and a number of new initiatives, the ODC seeks to drive therapeutic development for rare diseases. We help identify and fund the most promising therapeutics while also tackling obstacles present in rare disease drug development.
About Our Grantmaking
The ODC offers over 50 grant opportunities in 30+ disease areas annually to researchers across the globe, as well as within the Penn and CHOP community. Since 2011, our grant programs have funded $17.2 million in rare disease research.
See Available Grants Below:
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.
- Please take special consideration to describe the proposed work and its potential impact on SCAR-15 disease in a language appropriate for non-scientific audiences.
Duration and Budget
- Expected duration is 12 months
- Up to 2 awards of up to $50,000 per grant / At least 1 award of up to $100,000
- Renewals could be considered at the end of the 1 year grant period
- IDCs of up to 10% should be included in the total award amount
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.
Requirements and Eligibility
Data generated as a result of Jack Bear Foundation seed funding must be made accessible to the Foundation. Data can be embargoed for a period of time to be defined in a Data Use Agreement and/or Material Transfer Agreement to provide time to publish, protect intellectual property, etc. Resources generated as a result of Jack Bear Foundation funding (development of cell or animal models) must be made available to other interested researchers and the Jack Bear Foundation Biorepository.
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.
Letter of Interest Instructions
All applicants must first submit a Letter of Interest (LOI) to be reviewed for consideration of a full application submission.
Format for the 1‐page LOI:
- Project Title
- PI and Co‐PIs, and associated institutions or organizations
- Overall goal of the project
- Why application is responsive to the RFA: please note that the applicant will not be invited to submit a full application if relevance to the RFA is not clearly described
- Brief background
- Specific Aims provided as a brief list
- Specify the area to be studied, a high-level project timeline and amount to be requested
Requested resources should be in terms of 1 year of funding and total award amount – up to $50,000 or up to $100,000 (including direct and indirect costs). It is strongly preferred that applicant institutions waive indirect costs allowing the total amount to go towards research, but indirect costs up to a maximum of 10% could be accepted in exceptional cases. Please specify the amount requested in the LOI.
LOI Due Date: LOI document is to be uploaded no later than 8pm (ET) on APRIL 18 2025, via this form. Applicants will be notified via email with a decision regarding their LOI, which, if successful, will invite the applicant to submit a full application.
Please review RFA before submission.