Today, approximately one in ten Americans suffer from a rare disease and half of these patients are children, according to the Global Genes project. There are some 7,000 known rare disorders ranging from benign abnormalities to life-threatening diseases.
IBM’s www.ibm.com efforts to use Watson Health to study rare pediatric diseases was recently unveiled at the Global Pediatric Innovation Summit. In addition, Shahram Ebadollahi, IBM Chief Science Officer and Vice President for Innovations talked about the project at the HIMSS Connected Health Conference www.himssconnectedhealth.org held the beginning of November in the Washington D.C area.
IBM and Boston Children’s Hospital www.childrenshosp.org are collaborating to use IBM’s Watson cognitive platform to help clinicians identify possible options for the diagnosis and treatment of rare pediatric diseases.
Experts at the hospital are able to feed genomic sequencing data from retrospective patients into Watson. The goal is to create a cognitive system that can help clinicians interpret a child’s genome sequencing data, compare this data with medical literature, and then quickly identify anomalies that may be responsible for the unexplained symptoms.
In an initial project focused on kidney disease, IBM’s Watson is going to analyze the massive volumes of scientific literature and clinical databases on the Watson Health Cloud to match genetic mutations to diseases and uncover insights that could help clinicians identify treatment options.
In one specific project, Watson will be trained in nephrology by reading related medical literature and aggregating information on causative mutations for Steroid-Resistant Nephrotic Syndrome (SRNS), a rare genetic form of kidney disease.