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.
Genetics Experts Support Adding Hundreds of Treatable Rare Diseases to Newborn Screening
Nearly nine of 10 experts on rare diseases agreed that sequencing healthy newborns’ DNA to reveal treatable genetic disorders should be available for all infants.
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
NIH Gene Therapy Team Reveals Its Path to FDA Orphan Drug and Rare Pediatric Disease Designations
March 29, 2023 - NCATS News
When NCATS received an Orphan Drug Designation (ODD) from the U.S. Food and Drug Administration (FDA), it marked a key accomplishment for researchers in the NIH's Platform Vector Gene Therapy (PaVe-GT) project.
Read ArticleA Rare Public Health Challenge
January 24, 2023 - NCATS News
In this NIH Director’s Blog guest post, NCATS Director Joni Rutter, Ph.D., discusses the public health challenge of rare diseases and how NCATS is working to bring more treatments to people with ra
mRNA COVID Vaccine Technology Is Leading Breakthroughs in Addressing Very Rare Diseases
January 12, 2023 - Grantee/Partner News
Leading Translational Gastroenterology Research
August 30, 2022 - Grantee/Partner News