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 ADLD Center, in collaboration with the Orphan Disease Center, will provide a 1-year grant to support research related to Autosomal Dominant Leukodystrophy (ADLD). Up to 2 awards will be granted at $50,000 each.

Background

Adult-onset Autosomal Dominant Leukodystrophy (ADLD) is a rare genetic disorder that develops symptoms in the fourth or fifth decade due to nerve damage that slowly progresses. The onset often includes autonomic conditions such as bowel or bladder dysfunction, male impotence, loss of fine motor skills, and orthostatic hypotension. Later symptoms include difficulties using and controlling legs and arms, ultimately leading to paralysis and problems swallowing, and eventually developing into intellectual impairment. ADLD is a fatal disorder, but it is slowly progressive; patients often survive for several decades.

ADLD can be caused by one of two genetic defects - either a duplication of the gene LMNB1 that encodes for the protein Lamin B1, or an upstream deletion. Lamin B1 is a protein that is present in every cell in the body and plays an essential role in cell structure. Either of the two aforementioned genetic changes results in toxic overexpression of Lamin B1. Although Lamin B1 is present in all cells in the body, overexpression of Lamin B1 mainly causes problems in the central nervous system where it causes demyelination.

The Orphan Disease Center, in collaboration with the ADLD Center, 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 following aims to further advance ADLD research and therapeutic approaches:

  1. Identification of short-term biomarkers that can monitor disease activity and treatment response.
  2. Establishment of outcome measures for future clinical trials.
  3. Development of therapeutic approaches in early symptomatic patients.
  4. Supporting pilot clinical trials, preclinical trials, or animal model trials that promote drug repurposing strategies.
  5. Development of a standardized evaluation criteria for clinical projects allowing uniformity of patients as well as the severity and progression of the disease.
  6. Development of cellular models (i.e. oligodendrocytes) for evaluation of therapeutic options to translate for clinical use.
  7. Evaluate pre-clinical patients (MRIs, genetic testing).

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 one-page Letter of Interest (LOI) to be reviewed for consideration of a full application submission. Please submit your LOI by January 9, 2023.

Orphan Disease Center