The University of Southampton
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Professor Deborah Mackay MA, PhD

Professor of Medical Epigenetics

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Professor Deborah Mackay is Professor of Medical Epigenetics within Medicine at the University of Southampton. She is the laboratory lead of the Wessex Imprinting Group, a translational research group investigating the molecular basis and clinical impact of human imprinting disorders. The group works at the interface of clinical care, diagnosis and research and has unique potential to translate novel research findings into clinical benefit.

Epigenetics is development written on the genome. For me, medical epigenetics is understanding how this writing works, and what happens to the individual when it goes wrong

Deborah studied Biochemistry at the University of Oxford, took her PhD in cell biology at ICRF, and began her postdoctoral work as a molecular cell biologist at UCL before developing her current interests in human medical genetics and epigenetics.


MA, Biochemistry, University of Oxford (1989)

PhD, University of London (1993)

Appointments held

Lecturer, University of Southampton (2007)

Reader, University of Southampton (2012)







Research interests


Deborah Mackay leads the Wessex Imprinting Group in a broad programme of research on human imprinting disorders, which are congenital disorders affecting the regulation of genes rather than their DNA sequence. Her group is delineating the genetic causes, epigenetic features and clinical consequences of imprinting disorders, with two aims: to understand the biology of imprinting, and to improve the lives of patients affected by these disorders.

Imprinting disorders

The group identified the locus for the rare imprinting disorder transient neonatal diabetes (TND, characterised by severe growth restriction and infant diabetes), defined the DNA methylation anomaly that causes it, and developed robust testing for the disorder in affected neonates. In recent years she has studied further syndromes, including the overgrowth disorder Beckwith-Wiedemann syndrome (BWS), the growth restriction disorders Silver-Russell Syndrome (SRS) and Temple Syndrome (TS14), and the metabolic disorder Pseudohypoparathyroidism type 1b (PHP1b). Moreover, her group identified the archetypal ‘multi-locus methylation disorder’ in patients with DNA methylation problems affecting multiple imprinted genes throughout the genome. This has led to a fundamental redevelopment of the way we think about evolution of the epigenome in development. The group has developed informatic tools to delineate MLMD in order to stratify patients and better understand the mechanisms and consequence of disease.

ZFP57 and NLRP5

Dr Mackay’s group showed that mutations in ZFP57 are associated with a multi-locus methylation disorder, implicating ZFP57 in regulation of imprinting during early development. The group is now defining the DNA sequences bound by ZFP57, and its protein co-factors, which should not only uncover normal mechanisms of DNA methylation but also the anomalies that can result from its breakdown. More recently the group identified maternal mutations of NLRP5 associated with MLMD and a wide range of reproductive outcomes in offspring. This work has suggested critical connections between epigenetic marks, maternal reproductive fitness and offspring development and health.


The research project “Imprinting disorders – finding out why” (IDFOW) is a pilot survey of DNA methylation anomalies in a UK-based patient cohort. With recruitment running at ~100 per year the study is indicating the prevalence and scope of anomalies in different imprinting disorders, supporting genotype-phenotype correlation, improved diagnosis, and support for clinical management. The group is also seeking novel genetic causes of epigenetic disorders. Cis- and trans-acting DNA mutations and rearrangements have been found that disrupt epigenetic control of gene expression, causing growth and developmental anomalies; exome and genome sequencing are being deployed to interpret these changes.



Academic unit(s)

Human Development and Health Academic Units

Affiliate academic unit(s)

Human development and physiology Research group

2015- Programme lead, MSc Genomic Medicine

Postgraduate student supervision

2007-10 - Claire Turner MD

2010-13 - Emma Baple PhD

2013-15 – Olumakemi Lokulo-Sodipe PhD





Professor Deborah Mackay
Professor of Medical Epigenetics Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury Wilts SO2 8BJ Tel: 01722 429080 (Main office) or 01722 425048 (direct) Fax: 01722 331531

Room Number:WRGL

Telephone:01722 425048

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