Tiny models to answer big questions: The worm and the yeast as tools in human genetics research

Patricia S. Pardo, Katherina Walz

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations


Astounding recent advances in the technology for determining DNA sequences have made personalized genomics a reachable goal, and have also led to the surprising finding that there are more genetic variants in an individual genome, both in coding and noncoding regions, than previously anticipated. This incredible amount of information presents a new challenge for personalized medicine: connecting the genotype to the phenotype. Big limitations are a lack of knowledge regarding gene function and an inability to predict the impact of genetic variation on the encoded protein function and abundance. This constraint might be overcome, at least partially, by using experimental organisms such as yeast and worms, where (compared with mammals) it is relatively straightforward to carry out systematic genetic screens. By combining the powerful advances in human genetics with model organism research, we may be able to gain new insights into disease pathogenesis, uncover new therapeutic strategies, and fulfill the promise of personalized medicine.

Original languageEnglish (US)
Title of host publicationCellular and Animal Models in Human Genomics Research
Number of pages20
ISBN (Electronic)9780128165737
StatePublished - Jan 1 2019


  • Caenorhabditis elegans
  • Genetic variation
  • Precision medicine
  • Saccharomyces cerevisiae
  • Schizosaccharomyces pombe

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)


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