Rare diseases research: expanding collaborative translational research opportunities

Area of Science:

• Medical Research
• Public Health
• Pharmaceutical Development

Background:

• Extensive public-private partnerships are driving an increase in rare disease interventions.
• The rare disease community sees renewed industry interest in niche markets.
• Approximately 25 million people in the US face 7,000 rare diseases with unmet needs.

Purpose of the Study:

• To highlight the collaborative efforts needed to address rare disease challenges.
• To underscore the role of patient advocacy in raising awareness and driving research.
• To detail the NIH's investment and translational research initiatives for rare diseases.

Main Methods:

• Analysis of public-private partnerships in rare disease research.
• Review of National Institutes of Health (NIH) funding and initiatives.
• Examination of the role of patient advocacy groups and regulatory processes.

Main Results:

• Significant collaborative efforts are required from diverse stakeholders.
• NIH invested over $3.5 billion in rare diseases research in 2011.
• Patient registries and observational studies are increasingly important for data collection.

Conclusions:

• An expanding emphasis on rare diseases offers hope for affected patients.
• Continued collaboration is essential to meet diagnostic and treatment needs.
• Translational research is key to overcoming data gaps for regulatory review.