Student's ground-breaking research on somatic mutations published

A PhD student from Clare Hall has co-written two papers presenting new insights into how the human body develops from one cell into trillions, and the genetic mutations that cells pick up along the way. Dr Tim Coorens, who works in genomics at the Wellcome Sanger Institute, published both studies last month in Nature. They are the first to analyse somatic mutation in normal tissues across multiple organs within and between individuals.

In the studies, using mutations as markers of a cell’s past, researchers were able to retrace human development, including in a 78-year-old individual, all the way back to the first cell division. In addition, they confirmed that the mutation rate in the germline cells is much lower than in the other tissues of the body.

This fundamental knowledge will help to establish baselines for human development and how we acquire mutations throughout life, in both the cells of our body and the genetic code that is passed on to the next generation. Knowing what 'normal' development and ageing looks like will in turn help to better understand the onset of disease.

Dr Coorens commented:
"It was surprising to find how much variation there was in human development between individuals, and especially between tissues in the same person. It's not as straightforward as the same set of cells contributing to the heart or kidneys, say, in every person. What our study makes clear is that human embryology is not set in stone."

Learn more in the Wellcome Sanger Institute's news release: https://www.sanger.ac.uk/news_item/researchers-discover-individual-variation-in-how-our-bodies-develop-and-acquire-mutations/ and via the links below.

Publications:
Tim H. H. Coorens, Luiza Moore and Philip S. Robinson et al. (2021). Extensive phylogenies of human development inferred from somatic mutations. Nature. DOI: https://doi.org/10.1038/s41586-021-03790-y
Luiza Moore, Alex Cagan and Tim H. H. Coorens et al. (2021). The mutational landscape of human somatic and germline cells. Nature. DOI: https://doi.org/10.1038/s41586-021-03822-7


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