María Rós is a SLC13A5 Superhero. Here are a few fun facts María Rós' family shared with us! Name: María Rós, Age: 18, Homecountry: Iceland. Maria loves to go to the animal park and the...
You may remember from our previous Science Simplified blog post that our DNA is the foundational instructional manual that our bodies use to function throughout the course of our lives. Our DNA sequence is made...
Katie Couric: Yesterday was Rare Disease Day. As many as 7,000 rare diseases affect 400 million people globally. The vast majority are not well understood, and less than 5% have approved treatment — yet worldwide,...
CZI’s Rare As One Network grant partners are driving scientific breakthroughs to fight for the lives of their loved ones. Kim Nye spent a decade traveling the world seeking a diagnosis for her daughter, Tessa,...
Nasha Fitter didn’t have time. There had to be a better, faster way, she thought — not just for her daughter, who recently turned 7, but for other people with rare diseases. Fitter tapped her tech...
The goal of genetic counseling is to help you learn more about how genetic conditions might affect you or your family. Genetic conditions are caused by a change in the normal DNA sequence, which is...
Bernharð is a SLC13A5 Superhero. Here are a few fun facts Bernharð's family shared with us! Name: Bernharð, Age: 4, Homecountry: Iceland, Bernharð has a support dog named Jaki, which means "Iceberg" in English. Jaki...
For the first decade of their daughter's life, Tessa Nye's parents desperately sought to find the cause of her hundreds of daily seizures. But after her brother Colton started having seizures shortly after birth, their...
