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The Opportunity and Challenges of Rare Disease Research

By September 30, 2010December 5th, 2023Awareness

Ed. note: This is the second post by Dr. Kim Hunter-Schaedle recapping the Conference on Clinical Research for Rare Diseases to see the first post please click here.

Rare diseases are no longer being thought of as unattractive markets by industry, especially with the consideration that 25 million persons in the United States collectively are living with one of 7,000 rare diseases; and that research on rare diseases can ultimately inform conditions that are much more common (e.g. while the Children’s Tumor Foundation funds research into NF1, NF2, and schwannomatosis, this research sheds new light on learning disabilities, bone deformities, brain tumors, and a variety of other manifestations of NF). Both NIH and the Food and Drug Administration (FDA) have increased resources for rare disease research in recent years.  From the perspective of the FDA, finding treatments for rare disease has moved up significantly as a priority in the last couple of years.  FDA now offers much more hands-on assistance than in the past for companies seeking to develop a new product for orphan diseases.

A number of other challenges remain for rare disease research. We still don’t know real prevalence of rare diseases, as many are estimated; though there is a lot of talk about biotech and pharma growing interest in rare diseases, we still don’t know the full extent of rare disease research ongoing in the private sector; we don’t have a full picture of where the research centers of excellence are for each disease and patient registries are not fully integrated. On the other hand there is a terrific opportunity for repurposing therapeutics originally developed for larger markets to those affected by rare diseases. Also of interest, an educational program on rare diseases is being developed for the US middle school curriculum to begin education early on this important area.