Children's Mercy on Ending Diagnostic Odysseys

In the sixteenth installment of the PhenoTips Speaker Series, Clinical/Research Assistant Director of the Molecular Genetics Laboratory at Children’s Mercy Center for Pediatric Genetic Medicine presents how Children’s Mercy’s Genomic Answers for Kids initiative uses PhenoTips software to find answers for children and families affected by rare diseases.


Globally, 300 million people, many of which are children, are living with rare diseases, facing long and often fruitless diagnostic journeys. Children's Mercy Research Institute's Genomic Answers for Kids initiative is building a first-of-its-kind pediatric data repository that will contain the genomic data and health information for 30,000 children and their families. This pioneering research will create a database of almost 100,000 genomes, facilitating lifesaving answers and acting as a rich resource in the fight to end diagnostic odysseys. In order to capture and manage this abundance of data, Children's Mercy uses PhenoTips software for their Genomic Answers for Kids (GA4K) project.

Dr. Ana Cohen is an ABMGG-certified clinical laboratory geneticist with a focus on the analysis and interpretation of genomic variants detected among pediatric rare disease patients. She completed her Masters in Biomedical Sciences at the University of Glasgow in Scotland, and her PhD in Medical Genetics at the University of British Columbia in Canada, where she explored the power of deep phenotyping end described the first two patients with EED-related overgrowth (also known as Cohen-Gibson syndrome). As part of the GA4K research program at the Children’s Mercy Research Institute in Kansas City, Dr. Cohen is currently investigating additional strategies for diagnostic success in patients with rare diseases.

In this webinar hosted by Dr. Pawel Buczkowicz, Dr. Ana Cohen will present:

  • The ways in which Children's Mercy and Genomic Answers for Kids use PhenoTips software
  • Cases solved by the Genomic Answers for Kids initiative with the use of PhenoTips software

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