Seminars take place monthly, featuring a leading speaker from the cardiovascular field and attracting an audience from around Cambridge and beyond. A light lunch is provided for attendees at 12.30.
If there is someone you would like to invite to give a seminar, virtually or in person please contact Denise Hatherly who will pass your suggestion onto our Seminar Oversight Panel.
Our seminars are also listed on talks.cam. Please feel free to share the details of this seminar on X & LinkedIn.
Thursday 28 March 2024, 13:00 - 14:00
Title: Mapping the genetic and cellular basis of atherosclerosis using single cell sequencing and functional genomics |
Prof Minna Kaikkonen-Määttä - Professor of Cardiovascular Genomics and Director of the Single Cell Genomics at University of Eastern Finland. |
Abstract: Genome-wide association studies (GWAS) have effectively charted thousands of loci linked to complex traits, illuminating the molecular mechanisms underlying complex diseases and contributing to the discovery of innovative drug targets. However, GWAS have also raised numerous questions. Notably, the majority of disease-associated loci reside in non-protein coding elements of the genome, with a significant portion of genetic risk stemming from perturbations in gene regulation. Given that regulatory elements, especially enhancers, are often specific to cell type and state, identifying these elements, the genes they regulate, and the relevant cell types and tissues remains a significant challenge for understanding the functional implications of risk loci. In this lecture, we tackle these critical challenges with a focus on coronary artery disease (CAD). First, we will explore how cutting-edge single-cell sequencing methods can pinpoint the tissues and cell types implicated in diseases by testing for enrichment of GWAS variants in genomic annotations. Next, we will discuss the use of high-throughput technologies, such as massively parallel reporter assays, to identify the causal variants. Finally, we will delve into the identification of genes regulated by GWAS loci, employing methods that test for colocalization of GWAS signals with molecular phenotypes and their correlations with single-cell sequencing outputs. This lecture demonstrates how acquiring knowledge through a functional genomics approach has led to a deeper understanding of the genetic basis of atherosclerosis. |
Host: Helle Jørgensen
Venue: Rooms 0.R100-102, Victor Phillip Dahdaleh Heart and Lung Research Institute (VPD-HLRI), Papworth Road, Cambridge Biomedical Campus Cambridge, CB2 0BB
A light lunch will be available from 12:30
Whilst we encourage attendance in person, if you are unable to join, please email Jane Sugars for a virtual link.
Dates for your 2024 diary
Thursday 11 April 2024 13:00 - 14:00 - Prof Enzo Porrello, Murdoch Children's Research Institute, Australia
Thursday 23 May 2024, 13:00 - 14:00 - Prof Colin Berry University of Glasgow, UK
Thursday 27 June 2024, 13:00 - 14:00
Thursday 25 July 2024, 13:00 - 14:00
Thursday 26 September 2024, 13:00 - 14:00
Thursday 24 October 2024, 13:00 - 14:00
Thursday 28 November 2024, 13:00 - 14:00