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From Mendel to multi-omics: shifting paradigms

European Journal of Human Genetics volume 32, pages 139–142 (2024)Cite this article

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The foundations of the basic principles of genetic inheritance were discovered about 158 years ago by Gregor Mendel when he investigated the segregation of seven hereditary characters (now referred to as genes) in garden pea in 1865 [1]. Because Mendel’s laws explain discrete inheritance of traits controlled by a few genes with clear dominance and recessive conditions, new strategies have emerged to better understand inheritance of complex traits, including population genetics, which deals with frequencies of alleles and genotypes at a population level, and quantitative genetics, which concentrates on individual continuous phenotype variation due to genotype and environment interactions [2,3,4]. Mendel focused on the fundamental laws of inheritance of traits but not on the chemical nature of inheritance. Recent publications, by van Dijk et al. [5], Fairbanks [6], Nasmyth [7], and Berger [8], discuss the history of Mendel’s experiments, his biography, and the nature of the questions that he investigated.

The discovery of the double-stranded helical structure of DNA in 1953 marked the transition from classical genetics to molecular genetics and paved the way for a vastly increased understanding of the biological mechanisms of life and diseases [9]. Since then, genetics has been led by molecular, statistical, mathematical, and computational methods to identity and unravel the role of about 20,000 human genes and a nearly limitless number of variant combinations. Understanding the function of every gene is important for determining the role of genomics in human health. Genetics is rapidly becoming the backbone of all biomedical research, and as of this publication, there are over 4802 human genes that are biologically implicated in at least one phenotype for a total of 7372 phenotypes (accessed May 20, 2023) [10]. According to the National Human Genome Research Institute’s bold prediction, the use of genetic information will be routine in research laboratory and clinical settings and the biological function of every human gene will be known by 2030 [11]. Although this prediction is an optimistic view, genetic discovery has led us to where we are, and it will lead us to the future.

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Fig. 1: A timeline depicting the key events in the history of genetic research and advances in the methods to study genes and gene function.

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Acknowledgements

We thank Shawna Hottinger for editorial assistance.

Funding

This work was supported by the National Institutes of Health (NIH) grant R01 HG011411.

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  1. Cincinnati Children’s Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA

    Tesfaye B. Mersha

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Conceptualization: TBM; Original draft preparation and writing: TBM; TBM has read and agreed to the published version of the manuscript.

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Correspondence to Tesfaye B. Mersha.

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Mersha, T.B. From Mendel to multi-omics: shifting paradigms. Eur J Hum Genet 32, 139–142 (2024). https://doi.org/10.1038/s41431-023-01420-x

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