I work as a Genetic Informatics Scientist at BpG. My role is a bit of a hybrid, since I'm a member both of the bioinformatics and interpretation teams. My main task is to lead the development of whole-exome sequencing data analysis and interpretation. I feel greatly passionate about improving diagnostics of rare genetic disorders, and work with the aim of solving each patient case that comes in front of me. One of the best aspects of BpG is that everyone shares these ambitious goals
I joined BpG after obtaining a PhD Degree from University of Helsinki, Finland in 2016. I have several years of experience in utilizing whole-exome sequencing in novel disease gene identification and diagnostics for rare disorders. My PhD research improved significantly the understanding of the genetic causes of rare epilepsy syndromes by characterizing novel disease genes and establishing new gene-phenotype in previously known genes. The PhD thesis included first-author papers in top genetics journals such as Nature Genetics and American Journal of Human Genetics. My PhD thesis was granted University of Helsinki Thesis Award 2016.
About Blueprint Genetics
We are changing diagnostics by providing accessible and actionable genetic knowledge in all medical specialties. Our mission is to support healthcare professionals around the world in providing the best care for patients and families with rare inherited diseases. We do that by delivering answers using fast, affordable, and comprehensive genetic diagnostics.
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