Rare Diseases

Featured Articles : Rare Diseases

Dr. Michael Collins (far left) and Dr. Alison Boyce (far right) spoke with patient community members about their experiences with FD/MAS.
June 27, 2024

More than two decades of NIH research gives answers on a rare disease affecting bones, skin, and the endocrine system

Why do patients with fibrous dysplasia/McCune-Albright Syndrome break their bones so easily? Or hit puberty as early as infancy?...

NIH Research, Rare Diseases, Dental Health, Skin Conditions
Because their eyes have similar structures to ours, geckos (like this Antilles gecko) are useful models for studying vision in humans.
October 25, 2023

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 can begin as early as 6 months of age, with symptoms being so subtle that parents may not even notice the change in their child’s development.
June 06, 2023

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
Richard Engel and his wife Mary lost their son Henry, right, in 2022 to Rett syndrome. Their younger son Theo was born in 2019.
May 30, 2023

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 “fix” genetic mutations by replacing or changing a gene that doesn’t work with one that does.
April 07, 2022

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
Research can be a source of hope for people with invisible diseases.
March 24, 2022

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

Telehealth makes it easier for some people with rare diseases to access medical care.
March 22, 2022

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
Rare Disease Day at NIH 2022
February 25, 2022

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

January 10, 2019

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
Andrea L. Gropman, M.D. researches urea cycle disorders with funding from NIH. She works at Children’s National Health System in the Washington, D.C. area.
January 10, 2019

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

Personal Story

Zoey Zalusky, right, was 19 years old when she passed away suddenly from a rare disease.
January 09, 2019

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, Personal Story