Our community feels intense urgency for research advancements that support therapy development for the estimated 10,000 rare diseases and conditions, but most especially for the 95 percent of those within our community still awaiting their first Food and Drug Administration (FDA) approval. The National Institutes of Health (NIH) plays a pivotal role in driving research, innovation, and policy development for rare diseases, which affect over 30 million Americans. Through its extensive network of institutes and centers, the NIH supports cutting-edge research, fosters public-private collaborations, and champions patient-centered initiatives.
Institutes and Centers
The National Institutes of Health (NIH) funds and conducts innovative rare disease research, without which rare diseases would go unstudied, and therapy development would be nearly impossible. While the NIH is comprised of 27 Institutes and Centers, there are several that focus on issues related to rare diseases.
National Center for Advancing Translational Sciences (NCATS)
The National Center for Advancing Translational Sciences (NCATS) has played a pivotal role in providing hope for the rare disease community since its establishment in 2011. NCATS speeds the development of new rare disease treatments by focusing on scientific approaches that can address more than one disease at a time. NCATS mission to facilitate innovative collaborations and novel infrastructure, fund cutting edge research, and drive landmark therapy development has supported 55 Investigational New Drugs and 14 approved therapies.
Advanced Research Projects Agency for Health (ARPA-H)
ARPA-H aims to accelerate better health outcomes for everyone by supporting the development of high-impact solutions to society’s most challenging health problems. ARPA-H aims to support projects that do not have traditional solutions by funding short-term novel projects from academia and industry to solve societal health-related challenge.
ARPA-H has dedicated $48.3 million over 3-years to revolutionize drug repurposing utilizing artificial intelligence technology through a collaboration with Every Cure, an organization founded by a Dr. David Fajgenbaum. This funding will allow Every Cure to develop an open-source drug repurposing database, create a portal for stakeholders to contribute repurposing ideas, and select drug candidates for advancement to address neglected diseases in neglected populations. This cutting-edge project builds on the Biomedical Data Translator Program, previous research funded by NCATS and aimed at reviewing comprehensive information to better understand pathophysiology to improve identifying therapeutic interventions.
The Common Fund
The Common Fund provides an avenue to fund innovative ideas that need time to develop into impactful programs. A key example of one such program with significant impact on the rare disease community was the Undiagnosed Disease Network (UDN). The UDN was a research study aimed to improve the level of diagnosis in rare and undiagnosed diseases in the United States initiated in 2014. Since its launch, the UDN has led to confirmed diagnoses of over 1,000 patients across 23 centers while providing genome sequencing, exome sequencing, RNA sequencing, and metabolic analyses. This program is currently housed within the National Institute of Neurological Disorders and Stroke (NINDS) and receives input and assistance from 17 NIH Institutes and Centers to ensure lasting support for the UDN.
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Protect Rare Disease Experts, Funding, and Stability of our Nation’s Biomedical Research and Public Health Agencies
For the over 30 million Americans living with one or more rare diseases, steady federal support for robust biomedical research and stability at national public health agencies are essential to […]
Public Engagement
Public–Private partnerships are a cornerstone of NIH’s rare disease strategy, ensuring that patient, academic, industry, and scientific stakeholders have a seat at the table. NIH involves rare disease patient organizations as research partners at every level, ensuring the patient voice in research. All consortia efforts include patient advocacy partners, helping set research priorities and design studies that matter to families.
Collaborative Partnerships
The Bespoke Gene Therapy Consortium brings together NIH, FDA, industry, and nonprofits to tackle gene therapy development collectively Likewise, the Accelerating Medicines Partnership programs (e.g., AMP-ALS for ALS research) unite NIH with private foundations and companies to share data and accelerate trials for rare neurodegenerative diseases. Such collaborations leverage NIH scientific expertise alongside outside resources to de-risk and speed up development of rare disease treatments.
The Rare Disease Clinical Research Network (RDCRN) is comprised of 127 patient groups that are integral collaborators, co-designing studies and participating in consortium governance.
Patient Engagement
NIH engages the rare disease community through information services and outreach. The Genetic and Rare Diseases Information Center (GARD), supported by NCATS, has handled tens of thousands of inquiries from patients and doctors – over 60,000 questions received from 2002–2016 alone – providing expert, tailored information on more than 4,000 rare conditions. This free service empowers patients and researchers with vetted knowledge about rare diseases and available resources.
ARPA-H’s RAPID program explicitly will fund partnerships with patient advocacy groups to guide data collection and tool development, ensuring new diagnostic technologies address real patient needs. This model of researchers and patient advocates working hand-in-hand has been crucial for successful recruitment, study design, and outcomes that matter to patients.
Rare Disease Day at NIH has grown into a major annual event co-sponsored by NCATS and the NIH Clinical Center to raise awareness and share progress. In 2024, over 2,000 patients, families, researchers, advocates, and other stakeholders attended Rare Disease Day at NIH, which featured patient storytelling, research updates, art exhibits, and scientific panels. NIH leadership emphasized that caring for rare disease patients “is at the heart of everything we do,” underscoring the institute’s commitment.
Previous Activities
- August 16, 2024: Commentary on the Proposed National Institute of Health (NIH) Reform to Committee Leadership
