1029B Poster - 16. Techniques and technology
Friday April 08, 2:00 PM - 4:00 PM

Authors:
Shinya Yamamoto ^1,2; J Michael Harnish ^1,2; Lucian Li ^2,3; Seon-Young Kim ^2,3; Sanja Rogic ^4,5; Guillaume Poirier-Morency ^4,5; Kym M Boycott ⁶; Philip Hieter ⁴; Paul Pavlidis ^4,5; Michael F Wangler ^1,2; Hugo J Bellen ^1,2; Zhandong Liu ^2,3; Undiagnosed Diseases Network

Affiliations:
1) Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; 2) Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; 3) Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; 4) Michael Smith Laboratories, University of British Columbia, Vancouver, BC, Canada; 5) Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada; 6) Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada

Keywords:
m. webtools and databases; x. other (diverse human diseases)

Progress in clinical genomic technologies such as whole-exome and whole-genome sequencing is leading to identification of novel genetic causes of human diseases. In order to understand the functional consequences of disease-associated genetic variants and to reveal the underlying pathogenic mechanisms, it is important to facilitate interdisciplinary collaborations between clinicians and basic scientists who share interests in the same/orthologous genes. While a number of national and regional efforts, such as the Undiagnosed Diseases Network (UDN) in the USA and Rare Diseases Models and Mechanisms Network (RDMM) in Canada, have been established to facilitate such collaborations, efforts to stimulate international collaborations have been lagging. To fill this gap, we have been developing MARRVEL (https://marrvel.org) and ModelMatcher (https://www.modelmatcher.net), two informatic tools that allow scientists to effectively gather information about a gene of interest in diverse species including human and to identify clinical collaborators on a global scale, respectively. Using these tools, Drosophila researchers can quicky gather information about the human and other model organism orthologs of their genes of interest and identify potential clinical and scientific collaborators around the world. While there is a lot of value in pursuing fundamental scientific questions that do not have obvious or immediate clinical value, an active involvement in a clinical project may help increase the significance of a specific research project, and increase the impact of the basic scientific work.