An innovative group of researchers and technology companies is currently meeting in San Diego to try to produce new hypotheses for a set of six patients struggling with undiagnosed diseases. The UnDx Consortium, which is composed of five precision medicine technology providers and experts from medical centers and universities across the U.S. will explore results of novel tests analyzing samples from these patients and their families. An estimated 350 million people suffer from rare diseases.

“It has been 13 years since science mapped the human genome, but the promise of personalized medicine remains largely unfulfilled,” says Douglas Jamison, co-organizer of the UnDx Consortium and chairman of Interome. “Genetics alone is not enough to provide the answers we need. We believe there may be opportunities by applying precision medicine technologies in a multidisciplinary approach that, combined with gene sequencing, will offer new insights on these difficult medical cases.”

The five technology providers that have donated their services to the UnDx Consortium include Genome Profiling (epigenetic analysis), The Lab of Rob Knight and the American Gut Project at the University of California San Diego (microbiome analysis), KromaTiD (chromosomal imaging platform for the detection of chromosomal rearrangements), Metabolon (metabolomic analysis), and ORIG3N (sample collection and stem cell analysis).

The main question addressed by the consortium is whether the contextual information provided by precision medicine technologies can be used in conjunction with genomic information to provide further hypotheses to the six patients covered in the documentary, Undiagnosed: Medical Refugees, and perhaps become a model to help other undiagnosed patients. The contextual information will complement genomic analyses previously performed in the CLARITY Undiagnosed Challenge, a virtual medical crowdsourcing effort established in conjunction with Boston Children’s and Harvard’s CLARITY Challenge, in an attempt to diagnose five patients whose undiagnosed odyssey was chronicled by the documentary.


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