Targeted career development awards for young faculty are particularly important in promoting and sustaining interest in and activity related to rare diseases. Examples of such awards include the K series grants from NIH and young investigator grants from CFF (e.g., the Leroy Matthews and Harry Shwachman Awards). The Dana Foundation’s competitive grants programs in brain and immunoimaging and neuroimmunology primarily support new investigators with innovative clinical research hypotheses to develop pilot data on brain or spinal cord diseases, most of which are rare. Some of these new investigators have NIH K-08 (or K-23) mentored grants, which provide up to 75 percent of their salaries, and Dana funds support the remaining 25 percent. Both Dana and the NIH training grants support the new investigators’ salaries, and other research-related costs often are supported by the investigators’ institutions. The Burroughs Wellcome Fund offers a postdoctoral fellow-to-faculty transition grant for physician scientists, a model for the NIH K99-R00 awards. This approach is particularly effective at establishing early independence for fellows (Pion and Ionescu, 2003), and it could be employed more broadly for researchers in rare diseases areas.
The committee did not locate any compilation of resources for training related to rare diseases. Thus, it was difficult to judge the current amount of training or its content as a basis for identifying specific gaps. The emphasis here is therefore more generally on the need for training in basic and translational or clinical research areas that will be relevant to many rare diseases.
The high costs and low success rates associated with drug discovery and development, combined with the absence, in the case of rare diseases, of a large market for approved therapies, have stimulated the development of innovation platforms on a number of levels. One typical characteristic of these emerging approaches involves the sharing of the data, biological specimens, chemical compounds, and other resources that are needed at various stages to move from discovery to product approval and marketing.
Another characteristic is the involvement of funding organizations beyond their traditional roles of supporting research projects and training. Some patient-led foundations have taken on the task of “de-risking” the early stages of drug discovery through early-stage clinical trials, for example, by combining an infusion of philanthropic capital with the development of research tools and organized access to patients. For example, CFF has assembled drug discovery tools of potential interest to the scientific community working on the disease: an antibody distribution program,