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Children's Mercy Research Institute announces rare disease diagnosis advancements

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Posted at 10:02 AM, Sep 14, 2022
and last updated 2022-09-14 11:02:44-04

KANSAS CITY, Mo. — Children's Mercy Kansas City Research Institute announced Wednesday new advancements the organization has made that transform "diagnosing and understanding of unsolved pediatric disease."

The institute says its five-base genomic sequencing system is the most advanced in the world and will assist in diagnosing rare diseases worldwide, allowing researchers to see disease variations that were previously unable to be seen in one test.

"The technology allows us to see into part of the human genome that has never been clinically tested and interpret changes beyond genetic code,” said Dr. Tomi Pastinen, director of the Genomic Medicine Center at Children’s Mercy Kansas City. “On average, only 30-40% of rare disease cases are diagnosed. What we are doing is giving those remaining 60% of families hope that we’ll find answers by discovering relevant gene variations in long-read sequencing only detectable by using this technology.”

The organization says it is working to gather the genomic data and health information of 30,000 children and their families over the course of seven years through the Genomic Answers for Kids (GA4k) program. This information will be used to create a database of 100,000 genomes.

The program was launched three years ago with the backing of $18.5 million in philanthropic funds.

In that span of time, GA4k has given 1,000 rare disease diagnoses to families, which the institute says far outpaces other rare disease diagnostic programs.

Of those 1,000 diagnoses, 300 genome samples were successfully sequenced using the new advanced system. These genomes contained rare functional variations that the release says expands the "genome alphabet" for studying unsolved rare disease.

“What once was a previously undiagnosed disease-causing mutation in a rare disease case is now discoverable because of full 5-base genome sequencing,” Pastinen said in a statement.

Due to the genomic advancements, Pastinen and his team are working with health care organizations and undiagnosed disease clinics around the United States to solve rare disease cases.

"We are years ahead in this space and have been driven by the realization that clinical sequencing as it was being done today was not sufficient, so we set out to advance the science in hopes of moving kids to the forefront of research discoveries much sooner,” said Dr. Tom Curran, senior vice president, executive director and chief scientific officer of the Children’s Mercy Research Institute.