Föreläsningar och seminarier Nicholson Lecture 2019 - From Genes and Genomes to Biology and Health

Karolinska Institutet (KI) has an extensive cooperation agreement with world-renowned Rockefeller University (RU), New York, USA. The agreement covers three exchange programmes including the Nicholson Lectures Programme.

The Nicholson Lectures Programme consists of two annual professors’ lectures. One Nicholson Lecture is held at each university by a visiting professor chosen by the partner university.

This year KI has the honor to welcome Richard P. Lifton, M.D., PhD, President of The Rockefeller University as speaker at the Nicholson Lectures 2019. 

Abstract

The mechanisms underlying many diseases remain unknown, thwarting development of robust approaches to prevention and treatment. Unbiased genetic and genomic approaches in humans have the ability to establish causal relationships between rare genotypes and extreme phenotypes, allowing characterization of biochemical mechanisms linking genotype to phenotype and identifying targets that may be manipulated for health benefit, both in patients with extreme phenotypes as well as those with common forms of disease. We have demonstrated the utility of this approach by defining rare mutations that cause extreme forms of high and low blood pressure, providing the scientific basis for public health efforts to reduce blood pressure by reducing dietary salt intake and increasing dietary potassium. Using next-generation DNA sequencing we developed and implemented robust methods of selectively sequencing all protein-coding genes (exome sequencing), enabling exploration of the contributions of de novo mutations, mutations with large effect but incomplete penetrance, multi-locus inheritance, somatic mutations and mutations with pleiotropic effects to a wide range of diseases.  The results have identified well over 1000 new Mendelian loci and suggest that mutation of the vast majority of human genes will have large phenotypic effect, alone or in combination with specific environmental or genetic interactors. Understanding the genetic and environmental contributions to health and disease are defining the opportunities for advancing human health.

Registeration closed. (Please note that registration is required).  Refreshments will be served after the lecture.