Hi there! For the coming weeks, our blog will be dedicated to our Young SIOP Award winners!
Please meet Ulrik Stoltze, YI from the Denmark, in his own words.
I am honoured to have received the SIOP 2022 Young Investigator Award. I am a medical doctor working in the subspecialty of clinical genetics termed pediatric oncogenetics. During my PhD, my work has focused on the question "Why do children get cancer?". The research is based on data from a prospective 5-year nationwide whole genome sequencing study called STAGING, where we mapped the entire germline genome of each child that develops cancer in Denmark [n > 700]. I analyze the genetics in order to find, firstly, pathogenic mutations in genes that are known to be associated with high risk of childhood cancer and, secondly, novel links between genes are childhood cancer risk. While the work focuses on all types of cancer, Wilms tumor emerged as a pediatric tumor type with a surprisingly high degree of both known and novel underlying causes. This led to the submission of an abstract to SIOP 2022, which was selected for the Young Investigator Award.
More broadly, data from STAGING is used to investigate novel methods; one developed based on the high level of evolutionary constraint of genes related to cancer risk in childhood specifically, and another developed to lower the cost of identifying rare mutations in large cohorts at a 20-fold cost reduction. The latter renders population screening for select childhood cancer predisposition syndromes economically feasible today. Lastly, our project also performs sequencing of retrospective cohorts, including children who died of cancer and who had germline DNA available through existing repositories.
I look forward to join SIOP in Barcelona in person.
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