UCL Institute of Health Informatics


Genetic Association Studies and Mendelian Randomisation

Mendelian randomisation studies have become increasingly popular in the past decade following the growth in availability of genome-wide data. Initially the course will cover basic concepts behind genetic association studies with focus on genome-wide association studies (GWAS).

The practical component will take you through quality controlling genetic datasets as well as using the latest statistical methods and software to analyse and visualise results for genome-wide data.

The second part of the course will then focus on Mendelian Randomization (MR), and more specifically using genetic variants identified through GWAS to estimate the causal relationship of a non-genetic risk factor on an outcome of interest. The practicals will be implemented in PLINK, HAPLOVIEW, R and Stata.

Planned Timetable

Day 1: Monday 17th 

TimeSession TitleLead tutor
09:00-09:30Registration and coffee 
09:30-10:30Introduction to genetic association studies and genome-wide association studies Dr Ghazaleh Fatemifar 
Dr Victoria Garfield
10:45-12:30Genome-wide association studies practical

Dr Ghazaleh Fatemifar 
Dr Victoria Garfield 
Dr Aliki-Eleni Farmaki

13:15-14:15Introduction to Mendelian RandomisationDr Michail Katsoulis
14:15-15:00Mendelian randomisation using individual-level dataDr Michail Katsoulis
15.15-16.00Mendelian randomisation using individual-level data (continued)Dr Tom Palmer
16:00-17:00Practical: individual-level dataDr Tom Palmer, 
Dr Michail Katsoulis, 
Mr Okazie Uche-Ikonne


Day 2: Tuesday 18th

TimeSessionsLead tutor
09:30-10:15Two-sample Mendelian randomisationDr Michail Katsoulis
10:30-11:30Two-sample Mendelian randomisation (continued)Dr Tom Palmer
11:30-12:45Practical: Two-sample Mendelian randomisationDr Tom Palmer,
Dr Michail Katsoulis,
Mr Okazie Uche-Ikonne
13:45-14:15Non-linear Mendelian randomisationDr Tom Palmer
14:15-14:45Practical: Non-linear Mendelian randomisationDr Tom Palmer,
Dr Michail Katsoulis
14:45-15:45Discussion of MR papersDr Tom Palmer,
Dr Michail Katsoulis
16:00-17:00Using genes for drug discoveryProf Aroon Hingorani


Course Team

Dr Ghazaleh Fatemifar (Lead Tutor)

Ghazaleh has a background in genetic epidemiology. Her research is focused on using genome-wide association studies to identify instruments for Mendelian randomisation. She completed her PhD at the University of Bristol before joining the Farr Institute of Health Informatics in October 2015. Her research interests include genetic epidemiology, Mendelian randomisation and machine learning. She was recently awarded an American Heart Association fellowship to work on clustering heart failure patients using unsupervised machine learning algorithms in contemporary electronic health records linked to genetic data.
Dr Victoria Garfield (Lead Tutor)

Victoria Garfield
Victoria is a genetic epidemiologist with a background in psychology and statistics. She is interested in using a combination of observational and genetic epidemiology to understand the aetiology of complex traits/diseases. She is currently a postdoctoral researcher in Prof. Nish Chaturvedi's group and she works in collaboration with Prof. Aroon Hingorani's group. She is also a Visiting Research Fellow at LSHTM, as she works closely with Prof. Liam Smeeth and Dr Ruth Farmer in the Department of Non-communicable Disease Epidemiology.
Dr Michail Katsoulis (Lead tutor)

Michail Katsoulis
Michail holds a BSc in Applied Mathematical and Physical Sciences (2006), an MSc in Statistics (2007) and a PhD in Epidemiology (2015).

He worked at the Hellenic Health Foundation and the University of Athens for 7 years (2008-2015) before joining the Farr Institute of Health Informatics Research London as a Medical Statistician (Research Associate) in December 2015.

His research interests include interaction and mediation analysis, Mendelian randomisation and application of causal inference methods to deal with time-dependent confounding.

He was awarded a British Heart Foundation Immediate Post-doctoral Basic Science Research Fellowship to work on weight change and cardiovascular disease using electronic health records.

Dr Tom Palmer (Lead Tutor)

Tom Palmer
Tom holds a BSc in Mathematics and Economics, an MSc in Medical Statistics, and a PhD in Medical Statistics/Genetic Epidemiology. He has worked in the MRC Centre for Causal Analyses for Translational Epidemiology and at Warwick Medical School. His research interests include methods for Mendelian randomization studies and meta-analysis. He is a lecturer in Medical Statistics in the Department of Mathematics and Statistics at Lancaster University, where he teaches masters level modules on epidemiology and multilevel models.
Prof Aroon Hingorani

Aroon Hingorani
Aroon obtained his medical degree in Oxford and London and undertook specialist training in Clinical Pharmacology and General (Internal) Medicine. He completed a PhD in Cambridge before undertaking a period of research at UCL as British Heart Foundation Intermediate and then Senior Fellow. He is currently UCL Chair of Genetic Epidemiology and Honorary Consultant at UCL Hospitals NHS Foundation Trust. His research applies genomic data to help identify new drug targets for heart disease prevention and treatment. Together with colleagues he runs a specialist blood pressure clinic and looks after patients with cardiovascular and general medical problems. He has been the Director of the UCL Institute of Cardiovascular Science since 2011.
Mr Okezie Uche-Ikonne

Okezie holds a Bsc in Statistics from Abia State University and an Msc in Operations Research and Applied Statistics from Cardiff University. He has worked as an assistant lecturer at Abia State University. He is currently a PhD Student at Lancaster University with a research interest in Mendelian randomization.
Dr Aliki-Eleni Farmaki

Alina (Aliki-Eleni) is a genetic epidemiologist with a background in Dietetics and Nutrition (Harokopio University of Athens, 2008), having done her master’s degree (MMedSci) at the University of Sheffield (2010).

In the frames of her doctorate, she participated as coordinator of the Hellenic Isolated Cohorts (HELIC) project, studying the environmental effects (mainly in the form of dietary patterns) and genetic predisposition of several cardiovascular risk factors (2011-2016). She has been trained in statistical genetics and data handling during a funded training at the Wellcome Trust Sanger Institute (2014). She worked in the Genetic Epidemiology Group at the University of Leicester (2017-2018) before joining the Institute of Cardiovascular Science, UCL as a postdoctoral researcher in Prof. Nish Chaturvedi's group.

Her research interests include genetic and observational epidemiology, Mendelian randomisation and mediation analysis to understand differences in glycaemic traits across populations.