nerships as well as explore new arrangements. For example, this report recommends that NIH and FDA cooperate to ensure that NIH-funded research for product development meets FDA expectations for regulatory approval. Another example is the potential for new public-private partnerships involving the federal government, industry, and patient advocacy groups to identify high-priority lines of research, jointly fund such research, and otherwise combine resources to accelerate the process of converting basic research findings into therapeutic discoveries and ultimately into effective preventive, diagnostic, and therapeutic measures. Although research on individual disease pathogenesis and treatment is essential, this research can potentially be further accelerated by identifying networks of biological pathways that are common to clusters of rare diseases. The task force can also explore incentives and other strategies beyond those identified in this report to further engage the biopharmaceutical and medical device industry in various stages of the drug and device development process.

Common diseases are increasingly “personalized” as researchers identify a spectrum of genotypes that can cause these diseases and find that patients with different genotypes may respond differently to different treatments. As a result, rare conditions that are actually subsets of common conditions will become more frequent. Researchers and companies studying these subsets will encounter the challenges of conducting research and developing products for small populations. Tensions may arise in health care delivery and financing between current concepts of evidence-based medicine (often promoting the best treatment for the “average” patient with a disease or identifying patient variables that warrant differences in treatment) and an emerging emphasis on personalized medicine (where the use of conventional methods to meet evidence thresholds on outcomes is inherently constrained). Well-organized and appropriately funded collaborative initiatives to accelerate research and product development for rare diseases may provide models for a broader array of diseases in the future.

A task force on rare diseases research and product development will not lessen the need for participants to improve their individual efforts and relationships as outlined in this report. Individual improvement will strengthen the foundation for collaboration.

In summary, the development of more effective drugs and medical devices for people with rare diseases represents an enormous challenge as well as a timely opportunity to improve public health. A successful response depends on further movement toward a more collaborative, coordinated, open, and sustained approach to rare diseases. Although the effort and investment needed are great, the stakes are high. The potential benefits justify a renewed, high-level commitment to accelerating rare diseases research and product development.



The National Academies | 500 Fifth St. N.W. | Washington, D.C. 20001
Copyright © National Academy of Sciences. All rights reserved.
Terms of Use and Privacy Statement