Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
| Autor: | Michael Wangler, Donna Brown, Hugo Bellen, Jennifer Posey, Mahshid Azamian, Matthew Wheeler, Ellen Macnamara, Shinya Yamamoto, Emilie Douine, Jennifer Louise Patrick Murphy, Jean-Philippe Gourdine, Katrina Waters, Philippe Campeau, Paul Fisher, Jordan Orange, Bobbie-Jo Webb-Robertson, Nicholas Stong |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
ved/biology.organism_classification_rank.species Genomics Review Biology 03 medical and health sciences symbols.namesake 0302 clinical medicine Rare Diseases genetic diseases Genetics diagnostics Animals Humans Lack of knowledge Exome Genetic Testing human whole-exome sequencing Model organism Exome sequencing ved/biology Genetic Diseases Inborn zebrafish Human genetics 3. Good health Disease Models Animal 030104 developmental biology Mendelian inheritance symbols Drosophila Functional genomics functional genomics 030217 neurology & neurosurgery Rare disease |
| Zdroj: | Genetics |
| ISSN: | 1943-2631 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|