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Boston Children's Hospital Taps Watson to Explore Rare Pediatric Diseases

NEW YORK (GenomeWeb) – Boston Children's Hospital said today that it will use IBM's Watson platform to help clinicians identify possible options for diagnosing and treating rare pediatric diseases.

In an initial project that will focus on pediatric kidney disease, investigators at the Manton Center for Orphan Disease Research will use Watson to analyze scientific literature and clinical databases stored on the Watson Health cloud, match mutations to diseases, and identify possible treatment options for the condition. Specifically, Watson will be trained on peer-reviewed information on steroid-resistant nephrotic syndrome (SRNS), a rare genetic form of kidney disease as well as genomic sequencing data from retrospective patients, according to Boston Children's.

Watson will help clinicians "uncover all relevant insights from the patient's clinical history, DNA data, supporting evidence, and population health data" ensuring that "we've left no stone unturned in our search to diagnose and cure these rare diseases," Christopher Walsh, director of the Division of Genetics and Genomics at Boston Children's Hospital, said in a statement.

"Rare disease diagnosis is a fitting application for cognitive technology that can assimilate different types and sources of data to help doctors solve medical mysteries," Deborah DiSanzo, general manager, IBM Watson Health, added. "Our goal is to team with the world's leading experts to create a cognitive tool that will make it easier for doctors to find the needle in the haystack, uncovering all relevant medical advances to support effective care for the child."

The pediatric kidney disease project will be done in collaboration Boston Children's nephrology division and Claritas Genomics, a diagnostic laboratory that offers genetic testing and develops new diagnostic tests and solutions. Following its completion, Boston Children's will apply Watson to undiagnosed neurologic disorders and other disease areas studied by the Manton Center.

IBM and Boston Children's are also working together to build OPENPediatrics, an online platform designed to bring medical knowledge to pediatric caregivers worldwide. In September, the two organizations announced they will integrate Watson's deep and iterative question-and-answer capability to enhance and scale the OPENPediatrics initiative.