Genomes from 240 mammal species explain human disease risks


In a large international project jointly led by Uppsala University and the Broad Institute, more than 30 research teams have together surveyed and analysed the genomes of 240 mammal species. The results, now published in 11 articles in the journal Science, show mutations that can cause disease. Karin Forsberg Nilsson and Ananya Roy at IGP have participated in one of the papers, where they have identified mutations associated with the cancer type medulloblastoma.

In the study, the researchers have regions in the genome that lie outside the genes, and compared them between different species. Regions that are evolutionary conserved between different species are most likely functionally important. By linking the positions in the genome conserved by evolution to known conditions, researchers can gain new insights on how diseases arise.

Karin Forsberg Nilsson led the cancer part of the study. Here the genome in patients with medulloblastoma was analysed and the researchers discovered many new mutations in evolutionarily conserved positions. They hope that analysis of these mutations will lay the ground for new diagnostics and therapies.

The project has been performed by an international consortium, led by Kerstin Lindblad-Toh, Uppsala University, and Elinor K Karlsson, Broad Institute, USA. All articles are published in Science Zoonomia, Science, 27 April 2023.

More information:

Press release Uppsala University

Science Zoonomia, Science

Video: Zoonomia – Hereditary diseases

Karin Forsberg Nilsson’s research

Last modified: 2022-01-26