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
Image of nine-year old Amber, who is part of gene therapy trial at the NIH Clinical Center and resident of The Children's Inn at NIH, with her parents and the CEO of The Children's Inn at NIH. (Daniel Soñé Photography)
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.
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
Rare Disease Day at NIH 2024: Showcasing Voices and New Opportunities
April 23, 2024 - NCATS News
- Our Impact on Rare Diseases
The rare diseases community came together at Rare Disease Day at NIH to share inspiring stories, impactful research advances and exciting new possibilities for the future.
Families, Researchers Share Insights at Rare Disease Day
April 12, 2024 - Grantee/Partner News
- Our Impact on Rare Diseases
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.