Monarch collaborates with Kids First to advance pediatric care-title-h1

A plethora of data, including gene sequence data and phenotypic descriptions describing childhood cancers and structural birth defects, is collected from pediatric patients across the country, but this data are not always accessible to clinicians and researchers, or when it is, it is not always consistently structured. These factors limit the kinds of computational analyses that could be done to inform clinical decision-making; this, in turn, creates barriers to improved diagnosis and treatment.

The Gabriella Miller Kids First Pediatric Research Program (Kids First) aims to address some of these needs through the creation of the Gabriella Miller Kids First Data Resource Center (DRC). The DRC manages, curates, and harmonizes data from patient encounters and disease research studies on structural birth defects and childhood cancers. Currently, this includes clinical, genomic, and imaging data modalities for computational analytics and public access. The DRC Portal provides a public entry point for searching and discovering the data, as well as interoperability with Cavatica as a cloud-based workspace to analyze the data in place on the cloud. “Monarch’s partnership with the Kids First DRC will harness transformative expertise to accelerate data-driven discovery across the childhood disease landscape,” says Dr. Adam Resnick, the Principal Investigator of the DRC.

One of the primary goals of the collaboration with Monarch is to assist in modeling and integrating data for computational utility so as to take advantage of Monarch’s cross-species ontologies and algorithms that help support diagnosis and mechanistic discovery. Refining the Kids First DRC data model and curation of diseases and phenotype data using the Monarch Merged Disease Ontology (MONDO), the Human Phenotype Ontology (HPO), and the National Cancer Institute Thesaurus (NCIt) will enable improved searching and analysis. These efforts will be in accordance with standards developed within the Global Alliance for Genomics and Health (GA4GH), where Monarch is a driver project and both programs are key contributors.

Additionally, the collaboration will strive to leverage and extend Monarch’s patient-centered tools to help families collaborate with their clinicians on the phenotyping and patient-community development. Dr. Haendel, one of the three leads of the Monarch Initiative, suggests that “the partnership aims to extend the translational reach of both programs by bringing together organismal data and resources, clinical phenotyping and clinical geneticists, and patients and families, supporting innovative collaboration.”

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