National Center for Advancing Translational Sciences - Rare Diseases

The National Center for Advancing Translational Sciences' (NCATS') mission is to turn research observations into health solutions through translational science. We work to develop or enhance the development, testing, and implementation of diagnostics

The Division of Rare Diseases Research Innovation (DRDRI) facilitates and coordinates many rare disease programs at NCATS, as well as NIH-wide activities involving rare diseases research. Major efforts include the Rare Diseases Clinical Research Network and gene-targeted therapy development efforts, such as the Bespoke Gene Therapy Consortium and Platform Vector Gene Therapy Pilot Project. DRDRI also develops and manages rare disease information resources for patients and patient advocacy organizations. The Advanced Therapeutics and Research Branch supports novel and innovative research efforts related to innovation in clinical trial design of treatments and therapies for rare disease patients. It also supports novel and innovative research efforts related to innovation in clinical trials of gene-targeted therapies. The Collaborative Research, Informatics and Special Programs Branch coordinates NIH-wide activities involving research into combating and treating the broad array of rare diseases and maintains a centralized informational database on rare diseases. It also collaborates within and outside NCATS in assessing the burden of rare diseases on the healthcare system.

NCATS is all about getting more treatments to all patients more quickly. There are more than 10,000 known rare diseases and only a few hundred have safe, effective treatments. A novel drug, device or intervention can take 14 years and $2 billion to develop, with a failure rate exceeding 95%. NCATS is directly addressing this problem by discovering new technologies and other approaches that could greatly accelerate the process of developing and deploying solutions that can be used by all translational researchers. NCATS supports a network of research consortia, each targeted to several related rare diseases. NCATS also supports an extensive resource of information for the public on rare diseases. NCATS supports expansion of the target landscape for therapeutic development by supporting pilot studies on druggable proteins that have largely been neglected by the research community, but are associated with rare diseases. It also supports strategies that will enable targeting biologic entities that cannot be modulated with traditional drug development of biologic strategies. In cases where a potential therapeutic has been identified for a rare disease, and a model system for testing the treatment has already been established, NCATS will support proof of concept studies to advance development of the candidate treatment.

The major elements in evaluating proposals include assessments of: (1) The scientific merit and general significance of the proposed study and its objectives; (2) the technical adequacy of the experimental design and approach; (3) the competency of the proposed investigator or group to successfully pursue the project; (4) the adequacy of the available and proposed facilities and resources; (5) the necessity of the budget components requested in relation to the proposed project; and (6) the relevance and importance to announced program objectives and (7) the availability of funds.

The initial review of applications from eligible institutions is conducted by committees comprised of authorities in various fields of biomedical research and science education, as appropriate. Each application is given a peer evaluation for merit. Recommendations for award are forwarded to the NCATS Advisory Council for the second level of review and recommendation for award.

From 15 to 30 days. Principal investigators (P.I.) may question the substantive or procedural aspects of the review of their applications by communicating with the NCATS staff. A description of the NIH Peer Review Appeal procedures is available on the NIH home page http://grants.nih.gov/grants/guide/notice-files/NOT-OD-11-064.html