Center for Orphan Disease Research and Therapy

Areas of Rare Disease Focus for the Center

Based on the existing strengths within the Penn and CHOP communities, we have identified five initial areas of rare disease focus for the Center and five individuals to advise and help coordinate research and development in these areas. We anticipate that more focus areas will be added as the Center evolves.

They are:

• Neuromuscular Disease  - H. Lee Sweeney, Ph.D.
• Metabolic Disorders  - James M. Wilson, M.D., Ph.D.
• Ocular Disorders - Jean Bennett, M.D., Ph.D.
• Hematological Disorders  - Katherine A. High, M.D.
• Rare Cardiovascular Diseases - Daniel J. Rader, M.D.

Center-Sponsored Research Projects on Rare Diseases for Members

To date, the Center has awarded over $2.8 million dollars to researchers on rare diseases. So far these grants have focused on lysosomal storage diseases, but in the future we plan to broaden the research awards to other rare disease areas as resources permit.  These awards have not been limited to the Penn/CHOP community, as the Center strives to support rare disease efforts nationally and internationally. We plan to continue funding rare disease projects and expand to other rare diseases.

To gain access to funding opportunities, please click on Grants and Pilot Projects.  These funding opportunities and other resources are only are available to members of the Center. Please click on the Membership page to join our Center.

Additional resources within Penn are available to Penn/CHOP researches who are members of the Center. Core and screening facilities will be available to center members; details of facilities will be available soon.

Animal Testing Cores

Preclinical testing cores, that will maintain animal models of rare diseases, are being developed to support the disease focus areas of the Center. As Center supported Cores are developed, information on the services they provide and how to get access will be posted on this site.

Links to Outside Resources

• National Organization for Rare Disorders
• NIH– ORDR – Office of Rare Disease Research
• FDA- Office of Orphan Products Development Funding Source
• Rare Disease Legislative Advocates

Links to Outside Funding Opportunities

• BSF Research Grant Program
  2013 Request for Research Proposals_Barth Syndrome Foundation
• Request for Proposals: National Organization for Rare Disorders Research Grant Program

Grants and Pilot Projects

RFA- Improved Therapies for MPS I 2013

The Center for Orphan Disease Research and Therapy announces a Request for Applications (RFA) to support research on the development of improved therapies for patients with syndromes due to MPS I including Hurler, Hurler-Scheie and Scheie. Particular emphasis will be on treatments that improve aspects of the disease which are not adequately treated by enzyme replacement therapy such as pathology in the CNS, skeletal system, eye and heart among others.   

Click here to download the RFA.

Click here on-line Pre-application.

It is anticipated that most grants will utilize pre-clinical and clinical models of MPS I. However, applications will also be considered that utilize models of mucopolysaccharidoses other than MPS I if their use is scientifically justified and the data can be directly applied to improved therapies for MPS I.

Pre-application deadline: Monday September 16, 2013

Full Application deadline (invitation only): Monday October 14, 2013

Earliest anticipated start date: November 15, 2013

Eligibility:

1. All individuals holding a faculty-level appointment at an academic institution or a senior scientific position at a biopharmaceutical company are eligible to respond to this RFA.
2. All applicants must become a member in the Center for Orphan Disease Research and Therapy to participate in this RFA.  Please click here for membership details.

Budget and Duration: Grants will be awarded for 1 to 2 years at $150,000 direct costs per year (10% indirect cost rate).

Questions: Please contact Linda Aversa-Caldwell by phone at 215-898-6111 or by email at laversa@mail.med.upenn.edu if you have questions or need additional information.

* Pre-application deadline is Monday September 16, 2013, submitted in .pdf format to: On-line Pre-Application