Program Overview

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Overview

Our research areas include:

genetic medicine

developmental genetics

neuromuscular and neurological genetics

mitochondrial genetics

cardiovascular genetics

You'll be a member of a thriving research community. The Institute is in Newcastle’s Life Science Centre.

You'll work alongside many research, clinical and educational organisations. This includes the Northern Genetics Service.

We offer supervision for MPhil, PhD and MD in the following research areas:

Cancer genetics and genome instability

Our research includes:

a major clinical trial for chemoprevention of colon cancer

genetic analyses of neuroblastoma susceptibility

research into Wilms Tumour (a childhood kidney cancer)

studies on cell cycle regulation and genome instability.

Cardiovascular genetics and development

We use techniques of high genetic analyses. This is to identify mechanisms where genetic variability contributes to developing cardiovascular disease. We explore gene factors and how they affect the development of the heart and blood vessels.

Complex disease and quantitative genetics

We work on large scale studies on the genetic basis of common diseases with complex causes. For example, autoimmune disease, complex cardiovascular traits and renal disorders. We are developing novel statistical methods and tools for analysing this genetic data.

Developmental genetics

We study genes known or suspected to influence malformations found in newborn babies. These include genes involved in normal and abnormal development of the:

face

brain

heart

muscle

kidney system

Our research includes the use of knockout mice and zebrafish as laboratory models.

Gene expression and regulation in normal development and disease

We research gene expression control during development and misregulated in diseases. This looks at the roles of:

transcription factors

RNA binding proteins

the signalling pathways that control these

We conduct studies of early human brain development. We look into:

gene expression analysis

primary cell culture models

3D visualisation and modelling

Genetics of neurological disorders

Our research includes:

the identification of genes that in isolation can cause neurological disorders

molecular mechanisms and treatment of neurometabolic disease

complex genetics of common neurological disorders including Parkinson's disease and Alzheimer's disease

the genetics of epilepsy

Kidney genetics and development

Kidney research focuses on:

atypical haemolytic uraemic syndrome (aHUS)

vesicoureteric reflux (VUR)

cystic renal disease

nephrolithiasis to study renal genetics

The discovery that aHUS is a disease of complement dysregulation has led to a specific interest in complement genetics.

Mitochondrial disease

Our research includes:

investigation of the role of mitochondria in human disease

nuclear-mitochondrial interactions in disease

the inheritance of mitochondrial DNA heteroplasmy

mitochondrial function in stem cells

Neuromuscular genetics

The Neuromuscular Research Group has a series of basic research programmes. We look at the function of novel muscle proteins and their roles in pathogenesis. Recently developed translational research programmes are seeking therapeutic targets for various muscle diseases.

Stem cell biology

We research human embryonic stem (ES) cells, germline stem cells and somatic stem cells. ES cell research aims to understand:

stem cell pluripotency

self-renewal

survival and epigenetic control of differentiation and development

This includes the analysis of genes in germline stem cell proliferation and differentiation. Somatic stem cell projects include:

programmes on umbilical cord blood stem cells

haematopoietic progenitors, and limbal stem cells

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Important information

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Your course and study experience - disclaimers and terms and conditions

Please rest assured we make all reasonable efforts to provide you with the programmes, services and facilities described. However, it may be necessary to make changes due to significant disruption, for example in response to Covid-19.

View our Academic experience page, which gives information about your Newcastle University study experience for the academic year 2022-23.

See our terms and conditions and student complaints information, which gives details of circumstances that may lead to changes to programmes, modules or University services.