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 millions of 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
New FDA Designations May Jumpstart Gene Therapy Development
New FDA designations granted to NCATS for rare disease therapies provide financial incentives for companies to further develop treatments.
NCATS Helped Develop a Gene Therapy for a Rare Brain Disorder
NCATS’ Therapeutics for Rare and Neglected Diseases (TRND) program helped develop a recently approved gene therapy for a rare genetic brain disorder.
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
NCATS Team Creates Novel Computational Pipeline to Find New Ways to Treat Glioblastoma
March 10, 2025 - NCATS News
- Analytical Chemistry
- Biomedical Data Translator (Translator)
- Informatics (IFX)
- Our Impact on Drug Discovery and Development
- Our Impact on Rare Diseases
NCATS scientists tested a new method that could identify existing drugs effective against glioblastoma, a type of brain cancer that currently has no adequate treatments and a very low five-year survival rate.
Read ArticleA Combination of Tests Shows Learning Capabilities of Nonverbal Children with Rare Brain Disorder
February 25, 2025 - NCATS News
- Our Impact on Rare Diseases
- Rare Diseases Clinical Research Network (RDCRN)
NCATS-funded scientists found that a pair of tests can measure nonverbal learning skills and show the cognitive abilities of children with Aicardi-Goutières syndrome.
AI Tool Helps Find Life-Saving Medicine for Rare Disease
February 5, 2025 - Grantee/Partner News
- Biomedical Data Translator (Translator)
- Our Impact on Rare Diseases
New Path for a Gene Therapy Trial at NIH for a Rare Metabolic Disease
November 19, 2024 - NCATS News
- Bespoke Gene Therapy Consortium (BGTC)
- Our Impact on Clinical Trials
- Our Impact on Drug Discovery and Development
- Our Impact on Rare Diseases
- Platform Vector Gene Therapy (PaVe-GT)
Scientists at NCATS and other NIH institutes and centers are teaming up to advance a gene therapy treatment for MMA, a rare and potentially life-threatening genetic disorder.