Human Genetics

, Volume 133, Issue 4, pp 381–382

Human Genetics’ 50th Anniversary Issue


DOI: 10.1007/s00439-014-1433-5

Cite this article as:
Hudson, T.J. Hum Genet (2014) 133: 381. doi:10.1007/s00439-014-1433-5

The journal Human Genetics celebrates its 50th anniversary in 2014. Two giants in the field of human genetics, Arno Motulsky (1923–), of the University of Washington in Seattle, and Friedrich Vogel (1925–2006), of the University of Heidelberg, co-founded the journal Humangenetik in 1964, which was renamed Human Genetics in 1976. At its launch, human genetics as a science already encompassed many of the fundamental concepts of inheritance, inborn errors of metabolism, and cytogenetics (including chromosomal abnormalities causing diseases such as Down syndrome) and population genetics (Motulsky 2010). Advances in molecular genetics resulting in part from the elucidation of the structure of DNA (Watson and Crick 1953) and the development of DNA technologies propelled the growth of medical genetics to emphasize gene discovery, the understanding of gene function, and expansion of human genetics from rare monogenetic disorders to more common and complex traits and diseases.

In the decades that followed, many major milestones were achieved as a result of international collaborative projects that generated and made available massive genome datasets (International Human Genome Sequencing Consortium 2001; International HapMap Consortium 2005); 1000 Genomes Project Consortium 2010). The development of the internet and the data sharing approaches adopted by such consortia accelerated discoveries by human geneticists worldwide (Toronto International Data Release Workshop Authors 2009). Human genetics has branched out into the clinic through formal specialities such as clinical genetics and genetic counseling. Knowledge gained from understanding the underlying causes and mechanisms of disease have permeated many other clinical disciplines. Policymakers and health-care providers are challenged by the arrival of new generations of DNA-based technologies in the clinical arena (Collins and Hamburg 2013) and medicine at large is grappling with new concepts of personalized medicine (Biankin and Chanock 2011; Dancey et al. 2012; Tran et al. 2013).

Over the past half-century, Human Genetics has been a pillar of the human genetics community. The scope of the journal has remained broad and includes articles on gene structure and function, genome-wide linkage and association studies in families and populations. Articles published by the journal have always included the latest conceptual and technological advances. The journal editors have shaped the scope of the journal to enhance submissions of articles that address clinically relevant questions or which provide new insights into human biology, including developmental genetics and complex diseases. In recent years, the journal has deliberately sought out new communities including bioinformatics and humanities such as ethics, law and sociology; the latter examples reflecting the growing requirement that human genetics be applied responsibly. An ever-growing rate of submissions to the journal, the evolution from a more European-centric author base to a worldwide community of scholars (for example, papers from Asia accounted for 24 % of all papers accepted in 2012) and a desire to maintain a high standard of excellence has led to a decrease in the acceptance rate (21 % in 2012). In recent years, the journal has created a venue for comprehensive Special Issues containing state-of-the-art reviews and perspectives in rapidly evolving areas such as the genetics of neurological and psychiatric diseases and traits (2009), personalized medicine (2011), X-inactivation (2011), biobanking (2011), genetics of substance abuse disorders and addiction (2012), genetic epidemiology (2012), and functional characterization of regulatory elements in the human genome (expected in 2014).

On this occasion, Springer has invited authors of well-cited articles published in Human Genetics to contribute to this Anniversary Issue. The topics cover areas of human genetics that were important both when the original articles were published and now. These include mechanisms of mutagenesis (Mussotter et al. 2014), cytogenetics (Cremer et al. 2014; Hook and Warburton 2014), statistical genetics (Knecht and Krawczak 2014), population genetics (Kidd et al. 2014), aging (Horan and Cooper 2014), psychiatric traits (Gelernter 2014), and cancer (Wojcicka et al. 2014).

There is little doubt that human genetics will continue to flourish as a field for decades to come. With this in mind, the editors and publishers of Human Genetics offer their best wishes to past, present and future authors, reviewers and readers of the journal. Happy 50th Anniversary!


T.J. H. is the co-editor-in-chief (Americas) of Human Genetics. T.J.H. is the recipient of a Senior Investigator Award from the Ontario Institute for Cancer Research, through generous support from the Ontario Ministry of Research and Innovation.

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Ontario Institute for Cancer ResearchMaRS CentreTorontoCanada
  2. 2.Departments of Molecular Genetics and Medical BiophysicsUniversity of TorontoTorontoCanada

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