Külalisseminar 7. novembril: „Sügoodist inimeseni: geenid, epigeneetika, keskkond ja juhus“

The life span of an individual starts from a single cell to forming a complex organism that may last for decades. We already know that these processes are regulated by several factors, including our genetic constitution, epigenetic modifications, environmental effects, and in part by chance. After the advent of genome-wide association studies (GWAS) in 2007, there were high hopes of developing predictive tests for common, complex disorders, such as coronary artery disease. Nearly two decades later, no such predictive tests based on even risk variant combinations, polygenic risk scores (PRS), have emerged to clinical use.

However, we have obtained important findings teaching us of population differences, regulation of genes, and the importance of rare mutations. In this presentation, I attempt to relate the different effectors and findings to each other to build a picture of what we may or may not achieve with the information gathered.

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Juha Kere, MD, PhD, specialist physician in clinical genetics, is Professor of Molecular Genetics at Karolinska Institutet, Stockholm, Sweden. During 2016-2019 he served as Professor of Genetics and Molecular Medicine at King’s College London. He has broad experience in the molecular analysis of single-gene and complex disorders and functional genomics. Recently, his laboratory reported the reprogramming of human embryonic stem cells to the early 8-cell-like phenotype. Dr. Kere has supervised or cosupervised 59 PhD theses and hosted 55 postdoctoral researchers, and he has published over 700 original research articles, reviews, or papers for common readership.