What animals can teach us about evolution, the human genome, and human disease

Abstract

During the past 20 years, since I started as a postdoc, the world of genetics and genomics has changed dramatically. My main research goal throughout my career has been to understand human disease genetics, and I have developed comparative genomics and comparative genetics to generate resources and tools for understanding human disease. Through comparative genomics I have worked to sequence enough mammals to understand the functional potential of each base in the human genome as well as chosen vertebrates to study the evolutionary changes that have given many species their key traits. Through comparative genetics, I have developed the dog as a model for human disease, characterising the genome itself and determining a list of germ-line loci and somatic mutations causing complex diseases and cancer in the dog. Pulling all these findings and resources together opens new doors for understanding genome evolution, the genetics of complex traits and cancer in man and his best friend.

Keywords:

• Canine genetics
• comparative genomics
• genome sequencing
• human genetics

Acknowledgements

I am indebted to all the people in my groups in Sweden and the United States, as well as a large number of collaborators around the world for their hard work on these projects. This science would not have been possible without you! I thank Elisabeth Sundström, Ann-Catherine Lindblad, and Sue Wincent-Dodd for useful commentary and proof-reading of the manuscript and Kai Siang Toh for help with illustrations.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

Financial support has been received from the Knut and Alice Wallenberg Foundation, NIH, Cancerfonden, and FORMAS. The author is a Distinguished Professor at the Swedish Research Council.

Notes on contributors

Kerstin Lindblad-Toh

Professor Lindblad-Toh received her PhD in human genetics at the Karolinska Institute. After a short Postdoc at the Whitehead Institute/MIT Genome institute, she went on to lead many vertebrate genome projects, as well as canine disease projects. She was one of the founders of SciLifeLab. She is currently a Professor at Uppsala University and the Scientific Director of Vertebrate Genomics at the Broad Institute.