Rare Diseases
Featured Articles : Rare Diseases
Big lessons from small creatures
For centuries, scientists have used small animal models to study everything from how genes work to how diseases develop. And...
NIH Research, Rare Diseases, Eye Disease
Rett syndrome: an overview of this rare genetic disorder
What is Rett syndrome? Rett syndrome is a rare genetic disorder in which a child’s early growth and development regresses...
Rare Diseases
Weathering a rare childhood disorder
As a chief foreign correspondent for NBC News over the past 15 years, Richard Engel has covered wars and conflicts around...
Rare Diseases
Gene therapies are a promising path to treating rare diseases
Researching and developing new treatments for rare diseases is time consuming, complex, and often expensive. Most rare diseases (almost 80%) are...
Rare Diseases
When there’s research, there’s hope
The first sign Meredith Winchell noticed was trouble breathing. At the time, she worked as an analyst at NIH. First,...
Rare Diseases
COVID-19 makes living with a rare disease even harder
Ongoing uncertainty, being alone, and not being able to get treatment. In many ways, the widespread challenges the COVID-19 pandemic...
Rare Diseases, COVID-19
Virtual Rare Disease Day at NIH 2022
In the United States, diseases that each affect less than 200,000 people are called “rare diseases.” There are about 7,000 – 10,000...
Rare Diseases
Supporting rare disease research at NIH
Tiina K. Urv, Ph.D., leads the Rare Diseases Clinical Research Network, part of NIH’s Office of Rare Diseases Research....
Rare Diseases
What is it like to research a rare disease?
Andrea L. Gropman, M.D., studies rare diseases with support from NIH and the Rare Diseases Clinical Research Network. She...
Rare Diseases
Zoey’s story: One family’s experience with a rare disease
In 2015, college student Zoey Zalusky was 19 years old with an exciting future ahead of her. She had a supportive, loving family,...
Rare Diseases