Genetic Discovery in Rare Diseases Pilot Grant RFA [Duke Internal Funding -- For Duke Faculty Only]

Funding Agency:
Duke University

The Duke School of Medicine Precision Genomics Collaboratory in collaboration with the Duke Center for Combinatorial Gene Regulation (CCGR): A Center of Excellence for Genomic Science (CEGS), is offering pilot grants to investigators to study the role of whole exome and whole genome sequencing in human cohorts with rare diseases.

The Precision Genomics Collaboratory's (PGC) fundamental mission is to coalesce, convene, coordinate, and facilitate communication between Duke genomics scientists and clinicians with the goal of creating a community for collaborative, interdisciplinary science and translation. The CCGR aims to develop and deploy technologically ambitious and highly collaborative sets of studies and methods to characterize noncoding variants.

This request for pilot grant proposals is based on the premise that whole exome/genome sequencing can be used to identify noncoding disease-causing variants, and as such, may serve as a powerful tool in patients with rare diseases in whom candidate gene sequencing has not been informative.

These pilot grants are open to investigators at all stages in their career including trainees with relevant human biospecimens for exome/genome sequencing and/or who have identified a noncoding variant in a rare disease and would like to perform functional follow-up.

We anticipate awarding up to three grants of up to $20,000 each for a duration of one year. Proposals should include details about the disease of interest, available clinical data and biospecimens, and previously conducted genetic sequencing. A brief budget detailing general use of funds should also be included (e.g. DNA extraction, biospecimen allocation, whole exome/genome sequencing, collection of additional biospecimens in family members, functional follow-up, etc.). Resources are available within the CCGR to assist investigators who do not have the appropriate expertise in these studies.

Application submission deadline is June 30, 2021.

Agency Website

Areas of Interest

Potential projects that align with this RFP include projects that aim to:

  • Find or characterize new patient cohorts (prioritized based on strongest evidence for noncoding genetic causes of disease; potential impact on patients and patient care; availability of patient phenotypes; and availability of patient samples or recall options for validation studies).
  • Prioritize noncoding variants based on clinical fit
  • Develop decision trees for patients with different criteria and/or modes of inheritance
  • Support functional follow-up studies (e.g., CRISPR editing in relevant cell line)
  • Support diagnostic whole exome/genome sequencing (i.e. in patients who have had negative candidate gene sequencing)

We are particularly interested in proposals that build new collaborations and/or new teams that might lead to extended productive and externally funded collaborations.



Funding Type



Junior Faculty


Medical - Basic Science
Medical - Clinical Science
Medical - Translational

External Deadline

June 30, 2021