University of Exeter Medical School, Exeter, UK
info@hyperinsulinismgenes.org
University of Exeter Medical School, Exeter, UK
info@hyperinsulinismgenes.org
Sarah is Professor in Genomic Medicine and a Wellcome Senior Research Fellow. She leads the hyperinsulinism (HI) programme in Exeter. The multidisciplinary team are increasing understanding of the genetic mechanisms of HI, 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.
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 is a laboratory-based technician within the group. She oversees the laboratory testing of research samples, their shipment and storage.
Maya has expertise in science communication and is leading on the development of genetic resources for families living with congenital hyperinsulinism.
Lara is a final year undergraduate student at Exeter who was previously a PTY student within the team. Lara’s project is focussing on improving understanding of founder variants in congenital hyperinsulinism.
Jayne is lead NHS Principal Clinical Scientist for the Congenital Hyperinsulinism diagnostic testing service in Exeter where she also has overall responsibility for the Exeter Genetic Beta Cell Research Bank. Her team also provide non-invasive prenatal testing for at risk pregnancies where knowledge of fetal genotype will impact pregnancy management, delivery and immediate postnatal care.
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.
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.
Amy is a healthcare scientist within the diagnostic genetics team in Exeter.
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 required for university.
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.
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.
Jessica is a functional biologist . Her research involves 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.
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 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.
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.
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.
Emma is a medical student and a BRC-funded intern. Emma is working with Dr Pamela Bowman to gain new insights into genotype-specific neurodevelopmental outcomes in children with congenital hyperinsulinism.
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.
NHS Clinical Scientist until 2026
Placement Training Year (PTY) Student (2023-2024)
Summer Intern, Translation Research Exchange @ Exeter (TREE) (2022)
BSc in Medical Sciences project student (2020-2021)
PhD in Medical Sciences (2019-2022)
Placement Training Year Student (2019-2020)
INSPIRE Award, Summer Placement Student (2018)
BSc in Medical Sciences project student (2017 – 2018)
MSc in Genomic Medicine project student (2016 – 2017)
Research Technician (2015-2020)
Professor Emerita (1995-2021)
