Meet Our Teams

The Exeter Centre for Hyperinsulinism Genetics group at the University of Exeter is advancing understanding and care of congenital hyperinsulinism through translational research.

Our teams have provided genetic testing for over 5,500 families across more than 100 countries and maintains a unique pancreatic tissue bank enabling study of disease-relevant tissue. They have discovered novel CHI genes and disease mechanisms, and published award-winning research in leading journals including Nature Genetics, Genome Medicine and The American Journal of Human Genetics. Their work shapes international care guidelines, improving variant detection, expanding phenotype knowledge, advancing personalised care for families worldwide.

The Exeter Centre for Hyperinsulinism Genetics

Genetic Discovery and Disease Mechanisms

Prof Sarah Flanagan

Sarah is Professor in Genomic Medicine and a Wellcome Trust Senior Research Fellow. She leads the congenital hyperinsulinism (CHI) programme in Exeter. The multidisciplinary team of researchers are increasing understanding of the genetic mechanisms of CHI, improving variant detection and increasing knowledge of how variants impact on phenotype and neurodevelopmental outcomes. The team use state-of-the-art technology to answer clinically important questions, with the research results being rapidly translated into routine care.

Dr Jasmin Bennett

Jasmin, a former PhD student in the HIGenes team, now works as a post-doctoral researcher. Her research focusses on discovering novel genetic causes of congenital hyperinsulinism and variant interpretation. Her recent work has concentrated on the role of beta-cell disallowed genes in the aetiology of congenital hyperinsulinism and the impact of the genotype on phenotypic outcomes in these disorders.

Sabrina Wright

Sabrina is a laboratory-based technician within the group. She oversees the laboratory testing of research samples, their shipment and storage.

Diagnostic Genomics

Dr Jayne Houghton

Jayne is lead NHS Principal Clinical Scientist for the Congenital Hyperinsulinism diagnostic testing service in Exeter where she also had overall responsibility for the Exeter Genetic Beta Cell Research Bank. Her team also provide non-invasive prenatal testing (NIPT) for at risk pregnancies where knowledge of fetal genotype will impact pregnancy management, delivery and immediate postnatal care.

NIPT Service

Dr Kevin Colclough

Kevin is a registered Clinical Molecular Geneticist based within the Genomics Laboratory at the Royal Devon University Hospital. Kevin oversees the Maturity Onset Diabetes of the Young (MODY) genetic testing service and is supports routine genetic testing for UK patients living with congenital hyperinsulinism.

Dr Rachel van Heugten

Rachel is a Clinical Scientist within the Exeter Genomics Laboratory at the Royal Devon University Hospital NHS Foundation Trust. Rachel is part of the monogenic disorders of insulin secretion team where she oversees routine genetic testing for Maturity onset Diabetes of the Young (MODY), neonatal diabetes and congenital hyperinsulinism.

Natasha Grumbt

Natasha is a healthcare scientist who is undertaking the Specialist Training Placement (STP) within the team. Her research aims to assess the prevalence of known genetic causes of congenital hyperinsulinism in individuals who clinically present with the condition for the first time in adulthood.

Dr Amy Llewellyn

Amy is a healthcare scientist within the diagnostic genetics team in Exeter.

Computational Genomics and Bioinformatics

Dr Thomas Laver

Tom is a Senior Lecturer in Human Genetics and a bioinformatician. His research focusses on the analyses of next-generation DNA sequencing data to identify novel genetic aetiologies for congenital hyperinsulinism, investigating variable penetrance and assessing gene-disease relationships. Tom is also the academic lead for the Devon Healthcare Hub, an outreach programme of the University of Exeter Medical School aimed at supporting disadvantaged pupils in Devon to achieve the grades needed to get into University.

Dr Matthew Wakeling

Matthew has developed a keen interest in novel data analysis methods for short read sequencing data, particularly for extracting information (such as copy number variants, homozygosity mapping, and relatedness) from sequence reads that would otherwise be unused. He created the software systems for the NHS Exeter rapid sequencing service for sick babies, and is the lead bioinformatician for the hyperinsulinism research being performed in Exeter.

Dr Oguzhan Kalyon

Oguzhan is a post-doctoral bioinformatician with Dr Tom Laver’s team. His previous research has focused on the role of structural variants in human rare disease. His current project investigates the contribution of both known and novel copy number variants (large deletions and duplications) to the aetiology of congenital hyperinsulinism.

Lara G.

Lara is a student at the University of Exeter who is currently undertaking her placement training year (PTY) within Dr Tom Laver’s team.

Functional Genomics, Cell Biology & Histopathology

Dr Jessica Hopkinson

Jessica is a functional biologist whose research focuses on performing laser capture microdissection, immunohistochemistry and immunofluorescence studies of patient pancreatic tissue stored in the Exeter biobank.

Jessica is the groups sustainability champion. She is also the department’s Laboratory Efficiency Assessment Framework (LEAF) ambassador and successfully led the Exeter Laboratory to achieve GOLD accreditation.

Environmental Sustainability

Michaelis Vasiliadis

Michaelis is a BRC-funded PhD student working in Prof Nick Owens team. His project looks to understand the mechanisms controlling genes selectively switched off in insulin-secreting pancreatic beta-cells.

Such genes are important to understand as they can sometimes become incorrectly switched on due to inherited genetic defects, causing diseases such as congenital hyperinsulinism.

Jacob Roberts

Jacob graduated in Biochemistry from the University of Bath and has developed strong interests in Genetics that underpin disease. He is currently working as research technician in Prof Nick Owens functional genomic team where he is studying the functional mechanisms of large deletions affecting the regulatory regions of the FOXA2 gene identified to cause congenital hyperinsulinism.

Clinical Research and Neurodevelopmental Outcomes

Prof Kash Patel

Kash Patel is an Associate Professor, a Wellcome Trust Career Development Fellow and a Consultant in Diabetes and Endocrinology at the Royal Devon University Hospital. His research focuses son using next-generation sequencing technology and large data sets to improve diagnosis and understanding of monogenic diabetes, type 1 diabetes and congenital hyperinsulinism.

Dr Pamela Bowman

Pam is an Academic Senior Clinical Lecturer and Specialist Registrar in Clinical Genetics at the University of Exeter/Royal Devon University Healthcare NHS Trust. Pam has been awarded an Exeter BRC mid-career Fellowship to undertake research into factors affecting the variability in neurodevelopmental features in individuals with neonatal diabetes and congenital hyperinsulinism.

Dr Jonna Männistö

Jonna is an honorary clinical lecturer at the University of Exeter. Her clinical background is as a paediatrician, currently focusing on clinical genetics. She joined the Exeter team from the University of Eastern Finland, Kuopio, on an European Society for Paediatric Endocrinology (ESPE) Research Fellowship. Her current research focuses on the genetics and clinical outcomes in patients with congenital hyperinsulinism.