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Rare Diseases Research and Resources

P.J. Brooks, Ph.D., and Joni L. Rutter, Ph.D., raising their hands in front of the lit-up Building 38A on the NIH main campus.
Rare Diseases Patients Share Their Journeys

During this past Rare Disease Day at NIH, people with rare diseases shared their stories while researchers discussed the importance of diversity and equity in rare diseases research and efforts to bring more treatments to all people more quickly.

Female doctor uses a stethoscope to measure a child’s heartbeat in a doctor’s office.
NCATS Supports Research to Shorten the Rare Diseases Diagnostic Odyssey

To improve the lives of people with rare diseases, NCATS is funding innovative research to shorten the time it takes to identify and accurately diagnose rare diseases.

Rare Diseases Clinical Research Network (RDCRN)

The RDCRN program is designed to advance medical research on rare diseases by facilitating collaboration, study enrollment and data sharing.

Gene Therapy and Gene Editing Programs

NCATS is involved with multiple programs for accelerating gene-targeted therapies using approaches that speed the development of treatments for multiple rare diseases at a time.

Therapeutics for Rare and Neglected Diseases (TRND)

The TRND program supports preclinical development of therapeutic candidates intended to treat rare or neglected disorders, with the goal of enabling an Investigational New Drug application.

Resources for People with Rare Diseases

To ensure patient involvement and engagement throughout the research process, institutions must collaborate with patients and patient groups to identify and understand public health needs.

Additional Rare Diseases Research and Initiatives

NCATS funds extramural research and participates in initiatives and activities aimed at addressing rare diseases.

Rare Diseases Clinical Research Network (RDCRN)

The RDCRN program is designed to advance medical research on rare diseases by facilitating collaboration, study enrollment and data sharing.

Gene Therapy and Gene Editing Programs

NCATS is involved with multiple programs for accelerating gene-targeted therapies using approaches that speed the development of treatments for multiple rare diseases at a time.

Therapeutics for Rare and Neglected Diseases (TRND)

The TRND program supports preclinical development of therapeutic candidates intended to treat rare or neglected disorders, with the goal of enabling an Investigational New Drug application.

Resources for People with Rare Diseases

To ensure patient involvement and engagement throughout the research process, institutions must collaborate with patients and patient groups to identify and understand public health needs.

Additional Rare Diseases Research and Initiatives

NCATS funds extramural research and participates in initiatives and activities aimed at addressing rare diseases.

Cost of Living with a Rare Disease

An NCATS-led study finds that the number of individuals with rare diseases and their medical costs have been underestimated, suggesting that nationwide health care costs associated with rare diseases are likely similar to common diseases such as cancer.

Learn more about the IDeaS (Impact of Rare Diseases on Patients and Healthcare Systems) study.

Download the IDeaS study fact sheet.

Rare Diseases Research Funding

NCATS seeks to facilitate rare diseases research by enabling efficient and effective movement of candidate therapies and diagnostics toward clinical trials and to increase their likelihood of success.

Learn more about Clinical Trial Readiness for Rare Diseases, Disorders and Syndromes grants, including current funding opportunities.

Browse our Open Funding Opportunities for additional rare diseases research funding.

Interested in Clinical Trials at NIH?

Patient involvement in clinical research helps investigators uncover better ways to treat, prevent, diagnose and understand human diseases.

Visit ClinicalTrials.gov for information about clinical studies at NIH and other institutions that are currently enrolling patients.

Division of Rare Diseases Research Innovation

Get in touch with Division of Rare Diseases Research Innovation staff for more information on programs and areas of expertise.

Stay connected with the Division of Rare Diseases Research Innovation on Facebook and Twitter.