ORCID Profile
0000-0001-9969-8610
Current Organisation
Lewis and Clark College
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Publisher: Elsevier BV
Date: 03-2018
Publisher: Oxford University Press (OUP)
Date: 22-11-2018
DOI: 10.1093/NAR/GKY1105
Publisher: Elsevier BV
Date: 2017
Publisher: Elsevier BV
Date: 06-2017
Publisher: Elsevier BV
Date: 04-2018
DOI: 10.1038/GIM.2017.128
Publisher: Elsevier BV
Date: 2019
Publisher: Oxford University Press (OUP)
Date: 31-08-2017
DOI: 10.1534/GENETICS.117.203067
Abstract: Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic hybridization methods. These efforts are limited by a lack of knowledge regarding gene function, and an inability to predict the impact of genetic variation on the encoded protein function. Diagnostic challenges posed by undiagnosed diseases have solutions in model organism research, which provides a wealth of detailed biological information. Model organism geneticists are by necessity experts in particular genes, gene families, specific organs, and biological functions. Here, we review the current state of research into undiagnosed diseases, highlighting large efforts in North America and internationally, including the Undiagnosed Diseases Network (UDN) (Supplemental Material, File S1) and UDN International (UDNI), the Centers for Mendelian Genomics (CMG), and the Canadian Rare Diseases Models and Mechanisms Network (RDMM). We discuss how merging human genetics with model organism research guides experimental studies to solve these medical mysteries, gain new insights into disease pathogenesis, and uncover new therapeutic strategies.
Location: United States of America
Location: France
Location: France
No related grants have been discovered for Jean-Philippe Gourdine.