Biography

My academic background is in developmental biology and genetics. I did my undergraduate studies in Biological Sciences at Northwestern University in Evanston, Illinois, USA. I did my doctoral studies in the Department of Genetics at Duke University, Durham, North Carolina, USA. I was then a post doctoral fellow with Dr Monica Justice at Baylor College of Medicine, Houston, Texas, USA where I was the recipient of an individual National Institutes of Health Post Doctoral Fellowship. Following my post doctoral fellowship I came to Manchester as a lecturer in 2004, was promoted to Senior Lecturer in 2013, and to Reader in 2018.

1994

B.A. Biological Sciences, Northwestern University, Evanston, Illinois, USA

2000

Ph.D. Genetics, Duke University, Durham, North Carolina, USA

2000 - 2004

Post-Doctoral Fellow with Dr. Monica Justice, Baylor College of Medicine, Houston, Texas, USA

2004 - 2013

Lecturer, Faculty of Biology, Medicine, and Health, University of Manchester, UK

2013 - 2018

Senior Lecturer, Faculty of Biology, Medicine and Health, University of Manchester, UK

2018 - Present

Reader, Faculty of Biology, Medicine and Health, University of Manchester, UK

Coronary disease is a major cause of premature death globally. This condition occurs when the blood vessels supplying the heart become blocked, starving the heart of oxygen needed for the beating heart muscle. An important step in identifying treatments for coronary disease is understanding how coronary vessels develop. The goal of one project in my lab is to determine how the cells of the heart form a complete coronary vascular network during embryonic development. Understanding the process of coronary vessel formation will promote the discovery of treatments for heart disease.

Another project in my laboratory studies the process of left-right axis formation.  As the embryonic heart develops the left and right sides must be distinguished because each performs specific functions. If this process is disrupted the heart and lungs will not form the correct connections, resulting in abnormal cardiac function and severe birth defects. Although some of the genes required for this process are known, more remain to be discovered. We have identified a mouse mutant with defects in establishing the left and right sides of the heart. By identifying the mutated gene in these mice, we will find a new genetic factor required for establishing proper left and right-sided heart development.

Cardiovascular Development

My research interests combine genetics and developmental biology to identify genes required for cardiovascular development. The heart is the first organ to form during embryogenesis, and proper function of the cardiovascular system is critical for embryonic survival. Additionally, human congenital heart defects occur in 1 in 125 live births. A better understanding of the signals required for proper heart development will provide new avenues for treatment of cardiovascular disease. Research projects in my lab include:

• the characterization of three mutants isolated from a balancer chromosome mutagenesis screen that have defects in different components of the cardiovascular system
• the identification the genes mutated in these lines through positional cloning
• the further analysis of cardiac gene function using molecular biology techniques.

A combination of genetic and developmental biology approaches are used in the laboratory for the characterization of these mutants and the identification of the causative mutation in each line. We have discoverd a role for Erbb2 in atrial electrical conduction.  We have also been characterising how the development of the epicardium affects coronary vessel development.  Experiments to characterize cardiac laterality and embryonic cardiac function in this mutant are also underway.

Genomics

A further interest in my laboratory is the genomic organization of the mouse genome. Using complementation test data from regional mouse mutagenesis screens we have studied the density of essential genes in the mouse genome for three genomic intervals. On a genome-wide scale we have investigated the correlation between regions of the genome with highly conserved microsynteny and the presence of essential genes. We have examined the role of essential genes in human disease, and have demonstrated that contrary to prior publications essential genes are invovled in a diverse array of human adult-onset diseases.  We have also demonstrated that diseases displaying locus heterogeneity are caused by proteins that are closely associated in protein-protein interaction networks.  Further studies in this area, using bioinformatics approaches, are underway to predict which genes are likely to be required for mammalian development. A project funded by Kids Kidney Research is currently studying genes that are mutated in congenital kidney defects.

I lecture on the second year course Organismal Genetics and teach on the second year Genetics Research Skills Module. I lecture on the final year unit Human Genetics and Evolution, and the final year unit Current Approaches in Anatomy. I am the unit coordinator for all undergraduate tutorials, Organismal Genetics, and Human Genetics and Evolution.  I teach academic tutorials for final year genetics students.  I am a PBL tutor for second year medical students for Mind and Movement, and give lectures to Medical students and Midwifery students on human embryology and development. I am a Senior Fellow of the Higher Education Academy.

Here are links to projects in my laboratory for self-funded PhD students.

https://www.findaphd.com/phds/project/the-role-of-the-spliceosome-protein-prpf8-in-embryonic-development/?p112459