Children's Mercy KC says its genomics system allows it to identify rare diseases like never before

Children's Mercy Kansas City (Mo.) says it has pioneered the world's most advanced genomic sequencing system, giving it the potential to diagnose a variety of rare pediatric diseases. The collaboration also includes Hassenfeld Children's Hospital at NYU Langone Health in New York City.

With 5-base genomic sequencing, researchers at the Children's Mercy Kansas City Research Institute say they can now sequence and extract the function from the full genome and methylome to identify disease variations never before done in a single 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 Tomi Pastinen, MD, PhD, director of the Genomic Medicine Center at Children's Mercy Kansas City, in a Sept. 19 hospital news release.

On average, only 30 to 40 percent of rare disease cases are diagnosed — this technology gives hope to the rest of those families, Dr. Pastinen said.

Started three years ago with $18.5 million in philanthropic funding, the Genomics Answers for Kids program at Children's Mercy aims to collect genomic data and health information on 30,000 children and families to create a database of 100,000 genomes. The program has already provided 1,000 rare disease diagnoses to families, the news release said.

"It is a major challenge to understand why many children with genetic conditions remain undiagnosed despite all the advances so far in genetics and genomics," stated Gilad Evrony, MD, PhD, from Hassenfeld Children's Hospital and the Center for Human Genetics and Genomics at NYU Langone Health. This collaboration "allows us to use the latest long-read sequencing technologies to help families find answers," he said.

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