4.4 Article

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

期刊

GENETICS
卷 207, 期 1, 页码 9-27

出版社

GENETICS SOCIETY AMERICA
DOI: 10.1534/genetics.117.203067

关键词

functional genomics; Drosophila; zebrafish; human; genetic diseases; whole-exome sequencing; diagnostics

资金

  1. National Institutes of Health (NIH) [U54NS093793, R24OD022005, R01GM067858, HD22486, GM114438]
  2. Alzheimer's Association [NIRH-15-364099]
  3. Simons Foundation Autism Research Initiative [368479]
  4. Robert A. and Renee E. Belfer Family Foundation
  5. Huffington Foundation
  6. Target ALS
  7. American Academy of Neurology (AAN) Neuroscience Research Scholarship
  8. CNCDP-K12 Fellowship from the National Institute of Neurological Disorders and Stroke [1K12NS098482]
  9. Ting Tsung and Wei Fong Chao Foundation
  10. National Human Genome Research Institute (NHGRI) [K08 HG008986]
  11. Canadian Institutes of Health Research [RCN-137793]
  12. Canadian Institutes of Health Research (CIHR) [RN-315908)]
  13. FRQS [30647]

向作者/读者索取更多资源

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.

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