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 2025 APBDRF Pilot Grant Program will provide a 1-year grant to support research related to Adult Polyglucosan Body Disease. Either two grants for small, independent project(s) with one PI for up to $50,000 each or one grant for up to $100,000 (if appropriately justified) for a larger, collaborative project will be awarded.
Background:
Adult Polyglucosan Body Disease (APBD) is an adult-onset, neurological form of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme (GBE1) gene. Deficiency of GBE1 results in the pathogenic accumulation of polyglucosan bodies in the nervous system.
APBD symptoms typically develop in the fourth or fifth decade of life and include bladder dysfunction, gait disturbance, sensory and motor neuropathy, weakness, and fatigue. Cognitive decline is seen in approximately half of the individuals with APBD. Progressive symptoms lead to wheelchair dependence and premature death. APBD is commonly misdiagnosed as multiple sclerosis, amyotrophic lateral sclerosis, and peripheral neuropathies. There are presently no treatments available for APBD.
The primary focus for this grant opportunity is basic science or clinical studies aimed at biomarker development (e.g., neurofilament light chain and glial fibrillary acidic protein assays) that could be used to demonstrate the effectiveness of a therapeutic for APBD. The APBD Research Foundation will also consider research proposals (or resubmission of updated/revised previously submitted proposals) that support:
● advancing the understanding of mechanisms of the disease, or
● clinical phenotyping and/or outcome measure identification that will facilitate future treatment trials, or
● development of approaches that will prevent polyglucosan body accumulation or will facilitate its removal from the central and peripheral nervous systems, or
● development of novel treatments.
Applicants are encouraged to collaborate with other scientists and clinicians and should include a statement on resource sharing in their proposal. Studies that showcase collaboration and have a strong likelihood of future follow-on funding are highly encouraged. Include a description of your research’s implications for the broader rare and neurodegenerative diseases landscape. Applicants should use existing disease models (i.e., mouse models, cultured skin fibroblasts) and work with existing APBD repositories to bank clinical samples and/or natural history data. Please contact the APBD Research Foundation’s Research Manager, Lindsay Gill, Ph.D. (lindsay@apbdrf.org) with any questions about these resources.
Eligibility
We welcome applications from tenure-track faculty, non-tenure-track faculty and postdoctoral fellows (PhD and/or MD); 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 APBD researchers is encouraged but not required.
Please review the RFA before submission
The ODC MDBR Pilot Grant Program provides a one‐year grant to support research related to a rare disease represented in the 2025 Million Dollar Bike Ride. Number of awards and dollar amounts vary per disease based on fundraising totals by each disease team.
Eligibility
This RFA is open globally. International applicants are invited to apply. All individuals holding a faculty‐level appointment at an academic institution or a senior scientific position at a non-profit institution or foundation are eligible to respond to this RFA. Prior MDBR award recipients must have current and updated project reporting to be eligible for selection.
This one-page LOI is due no later than Friday, September 19, 2025 by 8pm (EST).
Confidentiality:
The MDBR Grant Program is a confidential process and all content of the LOIs and Full Applications will be kept confidential by the ODC; our expert reviewers sign a CDA in advance of the review process. In order to encourage sharing of new techniques and findings to advance science, after funding decisions are made, the ODC will share a non-confidential lay summary of the research proposals received (required with your letter of interest), including those that were not funded, with each participating funding organization upon request.
Please review the RFA Guidelines before submitting your LOI.