Although many of the genes responsible for the 7,000+ rare human genetic disorders have been identified, there are still several thousand yet to be discovered. For that reason, disease gene discovery is a major research focus for the Center for Human Genomics and Precision Medicine. To address this issue, we have created the UW – Undiagnosed Diseases Program (UW-UDP) that, along with similar efforts around the world, will regularly identify candidate disease genes. However, establishing causality for these putative disease genes is a major challenge, due to the limited number individuals affected by the rare and ultra-rare genetic disorders under study.
Bench scientists play critical roles in solving this problem, by working with clinicians to develop and characterize animal and tissue culture models related to the human disorders and their candidate genes.
The Center actively supports clinician/researcher collaborations aimed at functionally assessing candidate disease genes through its UW Functional Genomics Network. Modeled after the Canadian Rare Diseases Models and Mechanisms Network (RDMMN), the UW Functional Genomics Network actively seeks to match clinicians and their candidate disease genes with researchers who can create and phenotypically characterize equivalents in model organisms. Collaborations between clinicians and researchers are then supported by pilot grant funding.
Our primary focus is on actively fostering collaborations between UW faculty. However, we recognize that the candidate genes we identify in UW patients won’t always match the interests of individual research faculty. To address this issue and increase the number of opportunities for collaboration for UW faculty, we are partnering with the Canadian RDMMN which involves 400+ clinicians and researchers across Canada. Initially this partnership will allow UW researchers and clinicians access to candidate disease genes found by Canadian clinicians and Canadian model organism researchers, thereby significantly increasing the chance of a good match and productive collaboration. Going forward, we expect to establish additional links with Australian and European efforts as well as the NIH-funded Undiagnosed Diseases Network.
Join Us! For more information on how clinicians and researchers can participate contact the UW Functional Genomics Network