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Our Impact on Rare Diseases

NCATS is the heart of rare diseases research at NIH. We speed the development of new rare disease treatments by focusing on approaches that can address more than one disease at a time.

Delivering Hope for Rare Diseases

There are more than 10,000 known rare diseases and only a few hundred have safe, effective treatments. In the United States, rare diseases affect about 1 in 10 people. 

We are working hard to address the significant and often unmet needs of those affected by rare diseases. Through our research programs and other activities, we partner with patients, advocates, clinicians and researchers. Together, we have moved promising therapies into clinical trials, advanced therapeutic development tools and technologies, created widely used informational resources, and raised awareness of the rare disease public health challenge. 

Our research priorities include shortening the time to diagnosis, spurring multiple treatments at a time, and making it easier and more efficient for scientists to discover and develop rare disease therapies. Because most rare diseases are genetic, we are especially focused on developing gene-targeted approaches for treating groups of rare diseases. We are also leveraging newer approaches, such as genetic analysis and machine learning, to help health care providers diagnose people with rare diseases and help people with rare diseases access the most current and reliable information. 

Explore All Areas of Our Impact


Impact Stories

NIH Study Suggests People with Rare Diseases Face Significantly Higher Health Care Costs

A retrospective study of medical and insurance records indicates health care costs for people with a rare disease have been underestimated and are three to five times greater than the costs for people without a rare disease.

NCATS-Funded Rare Disease Researchers Provide Key Data, Help Build New Kidney Atlas

NEPTUNE’s research has helped us learn more about the biology of  both rare and common kidney diseases. It has also led to better ways to diagnose and treat these conditions.


Rare Diseases Research Activities

We are addressing the public health challenges posed by rare diseases through a variety of collaborative research efforts. 

Bespoke Gene Therapy Consortium

The Bespoke Gene Therapy Consortium (BGTC) focuses on developing platforms and standards to speed the development and delivery of gene therapies for rare diseases. 

Therapeutics for Rare and Neglected Diseases (TRND)

The TRND program moves basic research discoveries in the lab closer to becoming new drugs.

Rare Diseases Clinical Research Network (RDCRN)

The RDCRN brings scientists together with rare disease organizations to study more than 200 rare diseases at sites across the country. 


Rare Diseases Research News

At a Symposium on Rare Diseases, Smiles Were in Abundance

March 28, 2024 - Grantee/Partner News

  • Our Impact on Rare Diseases

NCATS Enables a Drug’s Path to FDA Approval for Duchenne Muscular Dystrophy

March 15, 2024 - NCATS News

  • Our Impact on Drug Discovery and Development
  • Our Impact on Rare Diseases
  • Therapeutics for Rare and Neglected Diseases (TRND)

NCATS scientists conducted laboratory studies and provided guidance in the development of a drug for the rare muscle disease Duchenne muscular dystrophy.

Sharing Science and Stories at Rare Disease Day Symposium

March 7, 2024 - Grantee/Partner News

  • Our Impact on Rare Diseases

Last updated on April 19, 2024