Sanna Gudmundsson

My work aims to advance rare disease diagnosis and treatment by improving our understanding of variant-disease relationship and fundamental biological mechanisms. I am especially interested in using large-scale data to better understand factors that protect some carriers from severe disease, resulting in variable penetrance. Besides my reserarch at SciLifeLab/ KTH (Dept. of Gene Technology) with Prof. Tuuli Lappalainen, I work closely with Dr. Anne O'Donnell-Luria at the Broad Institute of MIT and Harvard on the world's largest population dataset, the Genome Aggregation Database (gnomAD).