Ontology Development Group Awarded Funding from Undiagnosed Disease Program

Melissa Haendel, in the Ontology Development Group in the OHSU Library was awarded a one year contract in the amount of $200,000 from the NIH Undiagnosed Disease Program (UDP) to support collaboration between the UDP and the Monarch Initiative.

The goal of this effort is to leverage phenotype information obtained from model organisms such as mice, zebrafish, fruit flies, and worms, to help identify potential genes that are implicated in human undiagnosed diseases. The project will make available the most phenotypically similar models and their related genes directly to the clinical application used by the UDP, Phenotips.

Enhancement of this clinical application with basic science knowledge will help prioritize candidate gene variants of the patients participating in the UDP identified from genome and whole exome sequencing.

The Monarch Initiative is a collaboration with researchers at OHSU, the Lawrence Berkeley National Laboratory, the University of California San Diego, and the University of Pittsburgh.

For more information, contact Melissa Haendel: haendel@ohsu.edu.