PUBLICATION

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Authors
Wangler, M.F., Yamamoto, S., Chao, H.T., Posey, J.E., Westerfield, M., Postlethwait, J., Hieter, P., Boycott, K.M., Campeau, P.M., Bellen, H.J.
ID
ZDB-PUB-170907-7
Date
2017
Source
Genetics   207: 9-27 (Review)
Registered Authors
Postlethwait, John H., Westerfield, Monte
Keywords
Drosophila, diagnostics, functional genomics, genetic diseases, human, whole-exome sequencing, zebrafish
MeSH Terms
  • Animals
  • Disease Models, Animal*
  • Drosophila/genetics
  • Exome
  • Genetic Diseases, Inborn/diagnosis
  • Genetic Diseases, Inborn/genetics*
  • Genetic Diseases, Inborn/therapy
  • Genetic Testing/methods
  • Humans
  • Rare Diseases/diagnosis
  • Rare Diseases/genetics*
  • Rare Diseases/therapy
  • Zebrafish/genetics
PubMed
28874452 Full text @ Genetics
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.
Genes / Markers
Figures
Show all Figures
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping