Model organisms facilitate rare disease diagnosis and therapeutic research

Undiagnosed Diseases Network (UDN)

Research output: Contribution to journalReview article

40 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)9-27
Number of pages19
JournalGenetics
Volume207
Issue number1
DOIs
StatePublished - 2017

Fingerprint

Therapeutic Human Experimentation
Rare Diseases
Research
Genes
Comparative Genomic Hybridization
Genetic Models
Medical Genetics
North America
Genomics
Proteins

Keywords

  • Diagnostics
  • Drosophila
  • Functional genomics
  • Genetic diseases
  • Human
  • Whole-exome sequencing
  • Zebrafish

ASJC Scopus subject areas

  • Genetics

Cite this

Model organisms facilitate rare disease diagnosis and therapeutic research. / Undiagnosed Diseases Network (UDN).

In: Genetics, Vol. 207, No. 1, 2017, p. 9-27.

Research output: Contribution to journalReview article

Undiagnosed Diseases Network (UDN). / Model organisms facilitate rare disease diagnosis and therapeutic research. In: Genetics. 2017 ; Vol. 207, No. 1. pp. 9-27.
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