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 Bow Foundation will provide a 1-year grant to support research related to GNAO1
Neurodevelopmental Disorder. At least 2 awards will be granted at $100,000 each.
Background
GNAO1 (G Protein Subunit Alpha O1) is a protein coding gene. Most patients with a GNAO1
neurodevelopmental disorder are diagnosed as infants or young children. Many of the patients begin
experiencing seizures, abnormal movements and developmental delays in their infancy. The
seizures are often refractory, and the patients seem to cycle through numerous medications as they
try to find relief. The abnormal movements seem to worsen as the patients age. Several patients have
benefited from deep brain stimulation surgery, including the youngest patient in the world to receive
the procedure (a 2-year-old in the UK).
The Orphan Disease Center, in collaboration with the Bow Foundation, is seeking grant applications
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 GNAO1 research and therapeutic approaches:
- Novel therapeutic approaches, including, but not limited to, techniques in genome editing,
RNA-based mechanisms, biologics, novel cell-based therapeutics, and development of novel
therapeutic compounds, including through small molecule repurposing or screening against
validated phenotypes in human cellular systems.
- Proposals that include collaboration across organizations or other rare diseases.
- Establishment of outcome measures for future clinical trials.
- Supporting pilot clinical trials, preclinical trials, or animal model trials that promote drug
repurposing strategies.
- Other aims are welcome and will be considered.
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.