Institute of Genetic Medicine

Staff Profile

Professor Bernard Keavney

Background

Roles and Responsibilities

Honorary Consultant Interventional Cardiologist, Newcastle upon Tyne Hosiptals NHS Foundation Trust

Research

Research Interests

Finding genes that cause heart and circulatory disease

Cardiology research

Diseases of the heart and circulation are the commonest cause of death worldwide, both in adults and children. In adults, the most important diseases are atherosclerosis (a process of “furring up” of the arteries feeding vital organs) and hypertension (high blood pressure), while in children congenital malformations of the heart occur in 7 in 1000 live births and are among the most serious conditions of childhood. None of these diseases run in families in a simple way that implicates just one gene in their causation. Rather they seem likely to result from a complex interplay of several different genetic factors coupled with environmental exposures. Genes having even relatively small effects on common and serious diseases would make a much larger contribution to the population burden of ill health than genes which cause rare Mendelian conditions. Finding such genes requires the conduct of large studies (numbering thousands of participants) of patients with the disease of interest, members of their families, and unrelated healthy people. Following collection of populations of interest, which we carry out in collaboration with investigators both in the UK and worldwide, we characterise the groups genetically by high-throughput sequencing and genotyping at the IHG. Recent developments in our knowledge of genetic variation have provided us with the facility to select genetic markers from over 4 million markers distributed over the genome and to type these at low cost in thousands of people. We select those markers which capture all the common variation at “candidate genes” – genes which by virtue of their physiological role or their involvement in disease processes in animal models are thought likely to contribute to the risk of disease. We work closely with statistical colleagues to conduct the complex and computationally intensive analyses required in these large datasets. Presently our work encompasses atherosclerosis, its risk factors high blood pressure and obesity, congenital heart disease in children (in collaboration with Professor Judith Goodship and Professor John Burn) and heart muscle function in extreme old age.

Cardiology research

In parallel with studies of genetic variation, we are conducting studies looking at gene expression in diseased tissues. This will facilitate the identification of novel candidate genes, and the delineation of mechanisms whereby particular genetic variants cause disease. We have applied laser micro-dissection and microarray analysis to examine gene expression in carotid artery specimens removed at endarterectomy from patients who are at risk of stroke because of carotid atherosclerosis. These analyses have identified new pathways involved in the development of carotid atherosclerosis.

Co-workers

Elise Andrews-Glen
Research Associate
Mike Cunnington
BCA Research Fellow
Darroch Hall BSc MSc PhD
BHF Research Technician
Darren Houniet
Research Associate
Rafiqul Hussain BSc
Research Technician
Valentina Mamasoula
Research Assistant
Thahira Rahman BSc MSc PhD
BHF Research Associate
Linda Sneddon
Research Nurse
Katherine Siddle
Work Experience Placement
Angeline Tan
PhD Student
Ana Topf BSc PhD
BHF Research Associate

Publications