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Rare-X: Everything’s up to Date in Kansas City, at Least When It Comes to Genomics

The Genomic Medicine Center at Children’s Mercy is working to sequence 100,000 genomes of children, siblings, and their parents with the hope of producing the largest data set of genetic information about children with rare diseases created to date.

The effort, known as the Genomic Answers for Kids program, is a seven-year, $80 million project at the Kansas City, Missouri-based hospital. The expectation is that studying the genetics of thousands of children will fuel progress in understanding rare diseases, identify undiscovered ones, and lead to faster diagnosis and new treatments. 

“Families have struggled sometimes for decades, not getting a diagnosis,” said Dr. Tom Curran, senior vice president, chief scientific officer, and executive director of the Children’s Mercy Research Institute. “Providing that upfront as part of a research study, but under conditions that allows the data to be returned to the families, meant that we could provide answers for a very large number of families while advancing the field.” 

The project has made a significant commitment to data sharing. Its data will be uploaded to the National Center for Biotechnology Information database of Genotypes and Phenotypes (dbGaP), which was developed to archive and distribute data and results from studies that have investigated the interaction of genotype and phenotype in humans. He said the research center is also developing a platform for real-time sharing that ultimately will be expanded for wide access.

“No single group has all the answers. And particularly with rare diseases, it’s very important to share information. You can learn from the experiences of others,” said Curran. 

“And our philosophy at Children’s Mercy in Kansas City is that although we’re very focused on our local demographic population, we actually believe we’re working for children everywhere in the world.”


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Learn more about Genomic Answers for Kids at Children's Mercy