MRC Human Genetics Unit
Medical Research Council Human Genetics Unit


We seek to understand how DNA changes impact on human health and disease, and how genes and the genome act in normal development and physiology.

Our research can be described by 2 broad themes:

Genome Interpretation

Generating step-change in understanding how changes to genome sequence, regulation and organisation can impact  understanding of normal human biology,  health and disease to underpin better disease diagnostics and disease management.

4D cellular medicine

Harnessing state-of-the-art cell, organoid and animal models integrated with the latest advances in genome editing, single cell ‘omics and imaging to understand genetic and molecular basis of disease and identify novel therapeutic strategies


We are also organised into three research sections to enhance collaboration, sharing and mutual feedback on our work. Section meetings are open to all and collaboration between sections is widespread and fruitful.

Research sections

Biomedical Genomics

Our research harnesses the power of large genome-size and population data to reveal the complex nature of disease processes.

Section Head: Professor Chris Ponting

Genome Regulation

Our research focuses on mechanisms that maintain the stability of the genome between cells and between generations, regulate the expression of genes and how changes to these contribute to disease.

Section Head: Professor Javier Caceres

Disease Mechanisms

Our research aims to understand how changes in our genomes cause disease by studying patients and families as well as model organisms.

Section Head: Professor Andrew Jackson

Ian Adams Research Group

Ian Adams: meiosis
Genetic and Chromosomal Stability in Mammalian Germ Cells

Wendy Bickmore Research Group

W.Bickmore research
Spatial Organisation of the Human Genome

Luke Boulter Research Group

L.Boulter - Research Image
Signalling in Tissue Repair and Cancer

Javier Caceres Research Group

J.Caceres_RNA Processing in Eukaryotes
Post-transcriptional regulation of gene expression

Oriol Canela-Xandri Research Group

High performance algorithms to analyse large and distributed datasets

Tamir Chandra Research Group

T.Chandra - Research Image
Systems Biology of Ageing and Disease

Helen Colhoun Research Group

Diabetes Medical Informatics and Epidemiology

Yanick Crow Research Group

Genetic disorders of Human Neurological and Immune Function

Tom Deegan Research Group

Mechanism and Regulation of Chromosome Replication

Malcolm Dunlop Research Group

M.Dunlop research
Colorectal Cancer, Genetic Susceptibility, Prevention

Ailith Ewing Research Group

Evolutionary trajectories of structural variation in cancer

David FitzPatrick Research Group

D.FitzPatrick - Research Image
Genetic Causes of Developmental Disorders

Jose Luis Garcia-Perez Research Group

Jose L Garcia Perez research
Regulation of LINE-1 Retrotransposition

Nick Gilbert Research Group

Nick Gilbert research 2019
Chromatin Structure and Genome Integrity

Chris Haley Research Group

C.Haley research
Complex Trait Genetics: Dissecting the genetic architecture of health and disease traits

Caroline Hayward Research Group

C.Hayward Research Image
Quantitative Traits in Health and Disease

Robert Hill Research Group

Chromatin Organisation and the Regulation of Gene Expression

Toby Hurd Research Group

T.Hurd research
Genetics of Ciliopathy

Andrew Jackson Research Group

Andrew Jackson research montage 2019
Growth, Inflammation and the Brain

Ian Jackson Research Group

I.Jackson - Research Image
Molecular Genetics and Development of Melanocytes, Genetic Models for Human Disease

Ava Khamseh Research Group

Biomedical Artificial Intelligence

Grzegorz Kudla Research Group

G.Kudla - Research Image
RNA Synthetic Biology

Hannah Long Research Group

Gene Regulation in Human Craniofacial Development and Disease

Joe Marsh Research Group

J.Marsh - Research Image
Computational Protein Biology

Richard Meehan Research Group

Richard Meehan research
Epigenetic Mechanisms in Development and Disease

Pleasantine Mill Research Group

P.Mill research image
Genetics of Cilia Biology

Liz Patton Research Group

L.Patton research
Targeting the Melanocyte Lineage in Development and Melanoma

Chris Ponting Research Group

C.Ponting research
Computational and Disease Genomics

Colin Semple Research Group

C.Semple research
Medical and Regulatory Genomics

Duncan Sproul Research Group

D.Sproul research
Epigenetics in Human Disease

Martin Taylor Research Group

Mutagenesis and its Biomedical Impact

Quantitative Trait Loci Research Group

Quantitative Traits in Health and Disease

Veronique Vitart Research Group

From GWAS to Function

Catalina Vallejos Research Group

Biomedical Data Science

Andrew Wood Research Group

A.Wood research
Genome Stability and Genome Editing

Sjoerd Beentjes (Affiliate)

Mathematical Biostatistics

Simon Biddie (Affiliate)

Genome regulation of lung inflammation, injury and repair

Rory Duncan Research Group (Affiliate)

Molecular mechanisms of secretion and autophagy
Molecular organisation of secretory machineries

Neil Henderson Group (Affiliate)

Cellular and Molecular Mechanisms of Tissue Repair and Regeneration

Tim Kendall Research Group (Affiliate)

T.Kendall research
Myofibroblast Origin and Function in Liver Fibrogenesis and Recovery

Davide Michieletto Research Group (Affiliate)

Topology and Viscoelasticity of DNA and Genomes

Albert Tenesa Research Group (Affiliate)

complex traits, statistical genetics, prediction
Understanding Human Complex Trait Variation

Ian Tomlinson (Affiliate)

Ian Tomlinson research
Cancer Genetics and Evolution

Jim Wilson Research Group (Affiliate)

J.Wilson research
Quantitative traits in health and disease