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 Wiedemann-Steiner Syndrome Foundation will provide 2-year grants to support research related to Wiedemann-Steiner Syndrome. At least 3 awards will be granted.
Background
Wiedemann-Steiner Syndrome (WSS) is a rare genetic disorder resulting from mutations in the MLL gene (also known as KMT2A) on the long arm of chromosome 11. The syndrome’s genetic underpinnings were clarified in 2012 by a group of researchers led by Dr. Wendy Jones. The gene encodes a histone methyl transferase which helps modify the expression of many other genes. The condition is autosomal dominant, and in most cases, the mutation occurred de novo. From an unpublished survey of 76 WSS families, the symptom determined to be of “Very High Impact” by most families, was disruptive behaviors. This included aggressive behaviors, impulsivity, and behaviors outside of age-appropriate societal norms and the most important therapeutic goals were to reduce these behaviors and improve cognitive functioning.
The Orphan Disease Center, in collaboration with the WSS Foundation, is seeking grant applications that aim to further progress the understanding of the disease:
- Two $90,000 grants to support the development and characterization, for the advancement toward therapeutic goal, of patient-derived cell models of WSS Syndrome (ex. iPSCs, neurons, reporter lines). These cells model will be deposited into a publicly accessible biobank.
- One $90,000 grant to support a Natural History Study. Proposals for this grant should focus on understanding the progression of the condition over time, often to support product development, especially for rare diseases. These studies are observational and aim to identify factors that influence disease development and outcomes.
Eligibility
All individuals holding a faculty-level appointment at an academic institution or a senior position at a non-profit institution or foundation are eligible to respond to this RFA.
Letter of Interest Instructions
All applicants must first submit a Letter of Interest (LOI) to be reviewed for consideration of a full application submission. Please submit your LOI by August 8th, 2025.
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 in the LOI
- Brief background including relevant literature.
- Specific Aims provided as a brief list
- Specify the variant(s) and/or cell type(s) to be studied, a high-level project timeline and budget
- Requested resources should be in terms of up to 2 years of funding and total award amount – up to $90,000 (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.
LOI Due Date: LOI document is to be uploaded no later than 5pm (ET) on August 8, 2025.
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 here before applying.
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.