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KANSAS CITY, Mo. — It was an historic day for the Children’s Mercy Research Institute in Kansas City and the world.

The institute reached a milestone in diagnosing rare diseases. It was made possible by what the institute calls the most-advanced genomic sequencing system in the world. 

Imagine you have a sick child, and the doctors don’t have a diagnosis. The work happening inside the Kansas City Research Institute is getting more answers for families. In fact, 1,000 families have now received answers. 

“No one else in the world is doing this right now,” said Dr. Thomas Curran, the institute’s executive director and chief scientific officer.

In 2019, Tomi Pastinen, director of Children’s Mercy Kansas City Genomic Medicine Center, started the Genomic Answers for Kids program, a first-of-its-kind place to store pediatric data. 

“And those treatments can ultimately lead to cures over time,” said Paul Kempinski, president and CEO of Children’s Mercy Kansas City. 

The goal is to collect genomic data and health information for 30,000 children and their families over seven years. This will create a database of 100,000 genomes, giving perspective as to what’s abnormal. 

In just three years, they’ve achieved the diagnosis of 1,000 rare diseases in children in Kansas City and across the country.

Of that, Pastinen and his team successfully sequenced nearly 300 genome samples using cutting edge five-base sequencing and long-read data.

“With the fifth base, we are able to not only ask what are the structural differences in the patient’s DNA, but what is the functional difference causing patients disease,” Pastinen said.

There are thousands and thousands of rare diseases, and Pastinen said 60% remain unsolved. 

“Children are not small adults. We need to study their diseases directly,” Curran said, “and that’s particularly true of rare diseases.”

Curran said almost all rare diseases primarily affect children.

“So collectively rare is quite common,” he said. 

One in 10 people in Kansas city and across the globe are living with a rare disease, according to CEO of Rare KC Sara Weir.

“There’s no cure for most rare diseases. Many of those go undiagnosed,” Weir said. “That’s why today’s announcement is quite groundbreaking and will give hope to so many patients, families and caregivers.”

Organizations across Kansas City collectively donated $18.5 million to make this program happen. 

Doctors said this research is making an enormous impact on children with rare diseases and the fight to find a cure will only continue. 

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