About the speaker
Samuli Ripatti, PhD, is the Director of the Institute for Molecular Medicine Finland (FIMM), HiLIFE, Professor of Biometry at the Faculty of Medicine, University of Helsinki, and Affiliated Faculty Memberat Massachusetts General Hospital and Broad Institute of MIT and Harvard. He is chairing the Research Council Finland’s Centre of Excellence in Complex Disease Genetics and the EU H2020-funded Intervene Consortium. His research group studies genetic variation in the Finnish population and its effects on common complex disease risks and management. He is one of the pioneers in developing and testing the clinical translation of polygenic risk scores in disease prevention and early detection.
Dr Ripatti’s research focuses on cardiometabolic diseases and cancers as models to learn about new disease mechanisms and to develop novel genome-based strategies for diagnosis, prevention and stratified treatment. He has played a central role in developing and testing the use of polygenic risk in prevention of cardiometabolic diseases and common cancers. He is also the PI of the GeneRISK Study, a pioneering longitudinal research project in studying the health impact of returning genetic and clinical risk for cardiovascular diseases to the study participants. He has published over 450 articles and book chapters.
Abstract
Large-scale genetic biobank studies play a crucial role in medicine, enabling the discovery of disease mechanisms without prior assumptions about the biological processes. Unlike many biological observations that can either cause or result from a disease, germline genetic variation has a one-way direction – from genotype to phenotype. Genetics influences susceptibility, progression, and treatment response across a wide range of diseases. It also provides a framework for enhancing our understanding of common diseases through systematic patient screening, helping identify disease variants, genes, mechanisms, and treatment targets, ultimately paving the way for innovative genetics-driven medical interventions.
However, critical to translate these genetic discoveries into clinical practice, key gaps remain. In this presentation, I will discuss and address some of these gaps by showing examples from large-scale Finnish and international genetic discovery, risk evaluation and translational studies in health care setting.
To join this seminar remotely, follow this Zoom link: https://uio.zoom.us/j/63833264607
Meeting ID: 638 3326 4607
About the seminar series
Once a month, NCMM invites international guest speakers to present on topics within molecular life science and medicine.
The seminar is open to all, with no registration needed.
Tea, coffee and a simple lunch will be served at 11.30 before the seminar.
NCMM International seminar schedule for 2024 can be found here.