Human diseases, especially cancer and hereditary disorders, have a more or less pronounced dependence on genetic or genomic alterations such as point mutations or structural variants. In this talk, we will explore different computational approaches that have been developed to help identifying the underlying causes of diseases which affect the central nervous system.
After a (very) brief introduction to some basic concepts of molecular biology, we will see how somatic mutations can be detected in a tumor sample, and how we can estimate which mutational processes have contributed to the development of the tumor. We will further discuss methods that use gene expression information to predict novel disease genes for hereditary disorders such as X-linked mental retardation (XLMR), and methods that use such data to identify biological processes or "pathways" that are significantly de-regulated in cancer.

Rosario M. Piro is an assistant professor of medical bioinformatics at the Institute of Computer Science of Freie University Berlin (FU Berlin) and the Institute of Molecular Genetics and Human Genetics of Charité-Universitatsmedizin Berlin. He is an associated investigator of the German Cancer Consortium (DKTK) and leads the small Computational Neuropathology & Oncology (CNO) research group at FU Berlin.
After his studies in physics at the Universities of Heidelberg and Torino, he shifted his focus to bioinformatics, obtaining first a Master's degree and later a PhD at Università degli Studi di Torino. In 2011, he obtained a postdoctoral fellowship at the German Cancer Research Center (Deutsches Krebsforschungszentrum) in Heidelberg, where he stayed for four years in the Departments of Theoretical Bioinformatics and Molecular Genetics, before accepting his current position in Berlin.