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GenomeWeb: Genomic Answers for Kids Team Releases Thousands of Genomes to Gain Insights Into Rare Diseases


By Andrea Anderson

Investigators with the Children's Mercy Research Institute in Kansas City's Genomic Answers for Kids (GA4K) project have released genome sequence data for thousands of participants in an effort to better understand pediatric rare diseases. But this first batch of data only represents a fraction of what they expect to be able to share in coming years as the program continues.

"Genomic Answers for Kids is our approach to change the outcomes for rare disease families, primarily in the greater Kansas City area, where Children's Mercy's main catchment area is," explained Tomi Pastinen, director of the Children's Mercy Genomic Medicine Center and a researcher with the University of Missouri-Kansas City School of Medicine. While the program accepts patients from other institutions, as well, more than 90 percent of patients come from the area, he added.

"By building a large database from tens of thousands of individuals in our area, we will disseminate the data and enable rare disease discovery throughout the country and beyond, globally," he noted.

The GA4K project is being done through the Children's Mercy Research Institute, which opened this year, following a large fundraising effort. The team has been doing related sequencing work for two years and has already enrolled thousands of pediatric patients and their family members.


Read the full article via GenomeWeb

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