Ailsa MacCalman

Ailsa was awarded a PhD studentship at the University of Exeter in 2019, under the supervision of Professor Jon Mill, Dr Elisa De Franco, and Dr Aaron Jeffries and collaboration with Professor Noel Morgan, and Professor Andrew Hattersley. Ailsa graduated with her Masters degree in Biomedical Science in 2018 from the University of Lincoln, where she researched autoimmune responses in Type 1 diabetes patients and HLA-DR4/DQ8 transgenic mice. With a keen interest in diabetes research, Ailsa took on the role of a research technician with the Diabetes and Metabolism group at the University of Bristol, before accepting her PhD studentship.
Ailsa’s project is focused on genomic regulation in the development of the human pancreas. Her project will evaluate the epigenetic and transcriptional changes which occur in the pancreas as it develops in utero, and compare this to patterns of gene regulation in the fully developed adult pancreas- facilitating a systematic exploration of hypotheses related to the developmental origins of diseases affecting the pancreas.

Tom Hewat

Tom is a PhD student based at the University of Exeter, supervised by Dr Sarah Flanagan and Dr Emma Dempster. He graduated from the University of Exeter in the summer of 2019 with a BSc in Medical Sciences (Human Genomics). During his undergraduate degree, he completed a summer placement within the epigenetics lab at the RILD, where he shadowed Sam Washer in his work investigating functional epigenomics and schizophrenia. His dissertation focussed on the use of whole genome sequencing data to uncover novel causes of congenital hyperinsulinism with Dr Thomas Laver. His PhD project is to investigate the role of DNA methylation in congenital disorders of insulin secretion, based on Level 3 of the RILD with Dr Flanagan’s group.

Marcelo Amorelli Kornexl

Marcelo is an Austrian third year BSc Medical Sciences (Genomics) student at the University of Exeter. He is currently completing a Professional Training Year (PTY), and will work half the year in Tokyo’s National Cancer Centre with Dr Ryoichi Sadahiro. The second half of the year will be spent working with Exeter’s Complex Disease Epigenetics Group assisting Dr Jonathan Mill. His research focuses on potential genetic and immunological biomarkers associated with the onset of delirium.

Lachlan MacBean

As part of his BSc in Biological Sciences at Bournemouth University, Lachlan conducted research into the genetic factors of type II diabetes, using Drosophila nephrocytes as a model for the human podocyte. In 2018 Lachlan completed an MSc degree in Biotechnology at the University of Essex after researching the relationships between smoking, age-related methylation and blood neutrophil-to-lymphocyte ratio. In the last year Lachlan has worked at Cambridge Epigenetix as a primary operator of the hydroxymethylcytosine-pulldown pipeline, contributing to the company’s aim of using 5-hydroxymethylcytosine signatures found in cfDNA as a diagnostic tool. Under the supervision of Professor Katie Lunnon, Lachlan is now undergoing a PhD project studying the molecular changes resulting from amyloid-beta immunisation in Alzheimer’s disease through integrated systems-level analyses.

Aisha Dahir

Aisha completed her undergraduate degree in Biomedical Sciences at the University of Birmingham. She focused on cell communication, with her research project specialising in understanding the genetic and protein changes in loss of Y chromosome in head and neck cancer. Staying on at Birmingham, she took a Msc in Bioinformatics where she analysed different datasets in several omics field using machine learning approaches. Her main project focused on single-cell RNA-seq analysis of mature and immature beta cells of healthy mouse. Aisha is interested in using these skills to understand genetic and epigenetic changes in disease and healthy states.

Betsan Jones

Betsan is a third year BSc Medical Sciences (Genomics) student at the University of Exeter. She has recently started her Professional Training Year (PTY) where she will spend 5 months with the Complex Disease Epigenetics Group under the supervision of Professor Jonathan Mill. The second half of her PTY will be spent in Tokyo at the National Cancer Centre Japan assisting Dr Ryoichi Sadahiro’s research of postoperative delirium. Her research project is titled “Gene regulatory changes through surgery and postoperative delirium”.

Joshua Harvey


Josh completed his BSc Biochemistry (Hons) at the University of Kent in 2016 and following graduation was employed as a Molecular Pathologist at Eli Lilly and Co. in Surrey. His role at Lilly involved histological analysis of pathological processes in neurodegenerative diseases. He is particularly interested in neurobiology, genetics and neurodegenerative disease, specifically synucleinopathies. This led Josh to join the Complex Disease Epigenetics Group as a PhD student, with a project investigating epigenetic changes in the brains of Dementia with Lewy Bodies (DLB) and Parkinsons Disease Dementia (PDD) donors. He will be working under the supervision of Professor Katie Lunnon, Dr. Ehsan Pishva and Professor Jonathan Mill and the project is funded by The Charles Wolfson Charitable Trust.

Barry Chioza

Barry Chioza is a Research Fellow working at the University of Exeter Medical School. Barry obtained an Honours degree in Biochemistry from Aberystwyth University before going to King’s College London to complete a M.Sc. in Neuroscience, followed by a Ph.D. in Molecular Genetics in 2002, entitled “Identification of genes involved in idiopathic generalised epilepsy”. The project aimed to identify variants in candidate genes for idiopathic generalised epilepsy (IGE) that have been previously identified to be involved in Mendelian idiopathic epilepsies in humans or mouse models using case-control and within-family association studies.

After completion of his Ph.D. Barry worked within leading research groups at the University College London, St George’s University of London and the University of Exeter. Barry’s work at St George’s primarily involved the elucidation of the genetic and molecular basis of inherited neurological conditions in genetically isolated communities such as the Amish communities of Ohio and Indiana, UK, India, Oman and Pakistan and has led to the identification of several novel disorders. These findings have provided the fundamental scientific insight required to develop therapeutic intervention for some of these disorders. Barry also has an interest in the definition of new genetic causes of inherited hearing loss and has played a central role in the identification of new syndromic forms of pre-lingual hearing loss in the Amish. Barry joined the Complex Disease Epigenetics Group in January 2018 to work on the MRC project investigating regulatory genomic variation associated with schizophrenia in human neuronal nuclei.

New study uses DNA methylation quantitative trait loci to characterize the relationship between methylomic variation, gene expression and complex traits

A new paper from our group published in the American Journal of Human Genetics highlights the utility of DNA methylation quantitative trait loci (mQTLs), for interpreting the functional consequences of common genetic variation associated with human traits. We describe the first comprehensive analysis of common genetic variation on DNA methylation using the Illumina EPIC array to profile samples from the UK Household Longitudinal (Understanding Society) study. We identified >12 million significant DNA mQTL associations including a large number not identified using previous methylation-profiling methods (i.e. the Illumina 450K array). We demonstrate the utility of these data for interpreting the functional consequences of common genetic variation associated with > 60 human traits, using Summary data–based Mendelian Randomization (SMR) to identify pleiotropic associations between complex traits and DNA methylation sites. We also use SMR to characterize the relationship between DNA methylation and gene expression. Our mQTL database and SMR results are available via a searchable online database as a resource to the research community.

Major funding to explore genomic changes in dementia

The research seeks to examine the way in which gene function changes at different stages of dementia

Exeter researchers will join forces with global experts to investigate the mechanisms behind Alzheimer’s disease, in a project announced on World Alzheimer’s Day (September 21).

The Exeter team, led by Professor Jonathan Mill, has been awarded almost £450,000 by Alzheimer’s Research UK (ARUK) to research the genomic mechanisms involved in progression of the disease. The University will team up with Eli Lilly and Company Ltd, who will collaborate with Exeter on the project as well as providing considerable matched funding.

Worldwide, nearly 44 million people live with Alzheimer’s disease or a related dementia. Alzheimer’s disease is associated with the build-up of proteins called tau and amyloid which form clumps that are damaging to brain cells. The driving mechanisms behind these changes in the brain involve both genetic and environmental factors, which are only partly understood. Further research is needed to fill the gaps in our knowledge and develop better treatments.

The project, starting in October, will use mouse models that reflect aspects of human Alzheimer’s disease to examine the way in which gene function changes at different stages of the disease. Researchers will measure the expression and regulation of genes in different regions of the brain, aiming to relate changes in gene function to changes in the progression of the disease.

Professor Mill said: “We’re delighted Alzheimer’s Research UK has funded our project, which aims to test the hypothesis that the development of Alzheimer’s disease pathology is associated with changes in the activity of genes in affected brain regions. The project brings together experts in genomics, informatics and neuroscience, and represents a novel approach for identifying the mechanisms involved in the progression of this terrible disease.”

Dr Rosa Sancho, Head of Research, at Alzheimer’s Research UK, said: “Currently 87,000 people in the South West are living with dementia, a condition which can rob people of their most precious memories and turn lives upside-down. Alzheimer’s disease is the most common cause of the condition, and while age is a big risk factor for the disease, it is not a normal part of ageing. Understanding the complex genetic processes contributing to Alzheimer’s disease is crucial in the hunt for new breakthroughs which will save lives.

“Exeter University is world-leading in this area of research, and we are very pleased to be funding Prof Mill’s pioneering project. Alzheimer’s Research UK receives no government funding for the research we support, and it is only thanks to the generosity of our supporters that we’re able to fund vital projects like this.”

The team will investigate how the findings identified in mouse brain compare to human genes by testing specific changes in their Alzheimer’s disease datasets.

Ultimately, we expect that the project will improve our knowledge of the underlying biological mechanisms leading to Alzheimer’s disease, which will allow is to nominate potential drug targets and biomarkers for treatments of the disease.

To find out more about dementia research at Exeter, follow #ExeterDementia on Twitter or visit our dementia website:

Date: 21 September 2018