All Press Releases

Gene42 collaborates with Gabriella Miller Kids First Data Resource Center on childhood cancer and structural birth defect research

September 10, 2018

TORONTO, CANADA — Gene42 Inc., a Toronto-based company that develops software for precision medicine, is collaborating with the Gabriella Miller Kids First Data Resource Center (DRC) at the Children's Hospital of Philadelphia. The DRC is a new, collaborative, pediatric research effort with the goal of understanding the genetic causes of, and links between childhood cancer and structural birth defects. The Kids First DRC is led by the Center for Data Driven Discovery in Biomedicine at Children’s Hospital of Philadelphia, in partnership with Children’s National Medical Center, Ontario Institute of Cancer Research, Center for Data Intensive Science at the University of Chicago, Oregon Health and Science University and Seven Bridges and funded through the NIH Common Fund’s Gabriella Miller Kids First Pediatric Research Program.

Gene42’s PhenoTips® software is used around the world by leading hospitals and research institutions for deep clinical phenotyping and pedigree drawing as part of genetic-based disorder and rare disease investigation. Gene42 will co-develop an integrated PhenoTips® platform for standardized deep phenotyping alongside the genomic data in the Kids First Data Resource Portal.

As the DRC's primary outward-facing tool, the Kids First Data Resource Portal will serve the needs of a diverse group of patients, researchers, and clinicians partnering together to create the largest database of pediatric genomic data and provides the necessary tools and computational resources for analysis and interpretation of these complex data. This information will be used to advance personalized medicine for the detection, therapy, and the management of childhood cancer and structural birth defects.

“The DRC is a fantastic resource to study the relationship between pediatric cancers and structural birth defects,” said Dr. Pawel Buczkowicz, Chief Medical Affairs Officer at Gene42. “Cloud-based data portals such as this one, which engage patients, researchers, and clinicians from around the world are the future of how genomic medicine research will shape clinical practice.”

The Kids First Data Resource Portal provides access to newly released, large-scale NIH-sponsored and consortia-based pediatric genomic and clinical disease data. It empowers accelerated discovery efforts by enabling collaborative cloud-based analyses across institutions within an NIH-Trusted Partner and security compliant environment. Data from approximately 8,000 DNA and RNA samples from children affected with childhood cancer and structural birth defects and their families will be available for analysis with a total of 30,000 expected to become available over the next few years to researchers, clinicians and patients within the collaborative, cloud-based environment.

Useful links:

About Gene42 Inc.

Founded in 2014, Gene42 develops software for the investigation and treatment of people with genetic based disease. The Toronto-based team of computer scientists, software engineers, and medical experts develops specialized software to solve today's challenges and discover tomorrow's opportunities in medical genetics.