Computational and Disease Genomics

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We are trying to find out the DNA letter changes that cause disease, more precisely complex disease and cancer. A DNA change that alters someone’s risk of complex disease is hard to pinpoint because it is present among a large set of other changes that do not alter risk: it is a needle in a haystack. We are taking an unconventional approach that presupposes that changes in how a specific protein binds DNA alters disease risk. At the beginning of the study we do not guess which disease this is, but instead allow the human DNA data to reveal this. Our cancer research compares changes to both the DNA and RNA (a read-out of DNA) of single cells, and builds up a picture of how cancer is triggered and how its cells evolve over time. We hope to study multiple cancers that co-occur, and so find out whether they compete or cooperate. Finally, we apply our expertise in evolution to predict the functions of proteins that are altered in genetic disease.