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Phone: 0131 6511070

Willingness to take Ph.D. students: Yes

Projects in the field of psychiatric genetics

Education/Academic qualification

Doctor of Philosophy (PhD), University of Leicester
Isolation and characterisation of telomere and telomere-related sequences in the chicken genome
Bachelor of Science, University of Bristol

Biography

I am a Lecturer and Psychiatric Genetics and Biology Group Leader, at the Centre for Genomic and Experimental Medicine (CGEM) within the Institute of Genetics and Molecular Medicine (IGMM). I obtained a BSc in Biology from the University of Bristol. I subsequently joined the laboratory of Professor Terry Burke at the University of Leicester, where I completed a BBSRC Industrial Case PhD developing genetic markers to build the chicken linkage map, and to characterise chicken telomeres and telomere-related sequences. Following the group’s move to the University of Sheffield, I worked as a post-doctoral research associate on European FP6-funded Avian Biodiversity Programme, examining the distribution of population-specific (private) alleles and the amount of genetic variation shared among rare breeds of chickens.

In 2000, I moved to the University of Edinburgh and switched species. Working in the laboratory of Professor David Porteous, and alongside colleagues from the Royal Edinburgh Hospital (Division of Psychiatry), I am using genetics to understand how the brain controls behaviour through studying genetic susceptibility to psychiatric illness (depression, bipolar disorder and schizophrenia). I was awarded an RCUK Fellowship in Translational Medicine (Genetics, Genomic and Pathway Biology), combining both genetic, statistical and molecular approaches to understand the genetic basis of major mental illness. I continue this work, using linkage, association and whole genome sequence analysis to identify risk variants for mental illness and related quantitative traits such as cognition and mood, in both clinical and population-based cohorts. Key to this is using bioinformatics to understand the biological processes affected and integrating our understanding of the interaction between genetic and environmental effects acting on these complex phenotypes. In parallel, I use molecular cell biology to investigate the functional effects of a risk variant in GPR50 a candidate gene for affective disorder. This has identified a potential role for GPR50 in neurodevelopment through the activation of the WAVE complex.

I teach within undergraduate and postgraduate courses, both based in Edinburgh and by e-learning, and contribute to the planning, preparation and delivery of the Human Complex Trait module of the Quantitative Genetics and Genetics Analysis MSc (http://qgen.bio.ed.ac.uk/).

2013-onwards Lecturer, Institute of Genetics and Molecular Medicine, University of Edinburgh

2012-2013       Research Fellow, Institute of Genetics and Molecular Medicine,University of Edinburgh                      

2007-2012       RCUK Fellow, Translational Medicine (Genetics, Genomics, & Pathway Biology), University of Edinburgh

2005-2007       Career development Fellow, MRC Pathfinder Grant Brain Sciences II Initiative: Identifying new biochemical pathways involved in major mental Illness. University of Edinburgh

2000 – 2005    Postdoctoral Research Associate: Candidate Genes for Psychiatric Illness: Case-Control Association Studies on Chr1q42, Chr4p16, and Xq28, University of Edinburgh

1999 – 2000    Postdoctoral Research, European FP6-funded Avian Biodiversity Programme, University of Sheffield                    

1996 – 1999    Postdoctoral Research, Isolation of Terminal Markers for the Physical and Genetic Linkage Maps of the Chicken, University of Leicester

 

Qualifications

Year                Qualification               University                             

1997                Ph.D                          University of Leicester

1991                B.Sc. (Hons)               University of Bristol              

Current Research Interests

Understanding how variation in a person's DNA sequence affects their risk of developing mental illness.

Research Interests

I study the genetic basis of major mental illness, using statistical, bioinformatic and molecular approaches. I use linkage, association and sequence analyses to identify risk variants for mental illness and related quantitative traits such as cognition and mood, in both clinical and population-based cohorts. These complex phenotypes involve the interaction of genetic and environmental factors. I am investigating the interaction of genetic variants and environmental influences in depression using data from the Generation Scotland: Scottish Family Health Study (GS:SFHS).  In parallel, I use molecular cell biology to investigate the functional effect of a risk variant in GPR50, a candidate gene for affective disorder. I have identified a potential role for GPR50 in neurodevelopment through activation of the WAVE complex and I am investigating its possible link to Alzheimer's disease.

My research includes long term projects investigating the variation underlying the linkage between candidate regions and psychiatric illness including the TRAX/DISC locus on chromosome 1 and a chromosome 4p haplotype in families affected by schizophrenia and bipolar disorder respectively. I have recently published analyses of the >500 Kb DISC1 region by next generation sequencing, identifying association with mental illness, cognition and cognitive aging using both single variant and burden analyses. This project has been extended to over 260 genes in the DISC1 interactome.

In addition, I am utilising exome sequence data from of GS:SFHS families and individuals with recurrent major depressive disorder to identify common and rare variants increasing disease risk and to understand the biological pathways disrupted. I am also investigating modifier loci through analysis of whole genome sequencing data from members of the original family carrying a translocation that disrupts DISC1 and helping to integrate this with epigenetic information.

This work is carried out in collaboration within CGEM and with the University of Edinburgh Department Of Psychiatry, the Centre for Cognitive Aging and Cognitive Epidemiology (CCACE), Cold Spring Harbor NY, the University of Queensland Diamantina Institute, and researchers at the Institute of Genetics and Molecular Medicine (IGMM), and has been supported by funding from NIH, the MRC Brain Sciences initiative, the RCUK and the Chief Scientist Office (CSO).

Teaching

Lecturer   -   BSc Genetics and MSc lectures in Neuroscience, Translational Medicine [e-learning MSc], Quantitative Genetics and Genome analysis (QGGA).

Course Organiser   -  Human Complex Traits MSC of QGGA.

My research in a nutshell

Mental health problems are very common – affecting around one in four people- they include many different commonly diagnosed forms such as depression, bipolar disorder and schizophrenia. How mental health problems develop is a complex issue and involves both life experiences, and variation in the DNA sequences that encode and regulate genes. Understanding which genes are affected will allow us to develop more effective treatments for mental illness and to begin to understand how events in people’s life trigger such illnesses. By examining the differences in DNA sequence between many hundreds or thousands of individuals, both affected and unaffected by mental health issues, we hope to use statistical methods to identify the relevant genes and explore their function to gain a better understanding of the processes disrupted in mental illness.

Research activities & awards

  1. The New Genomics: Knowledge, Health and Society

    Activity: Academic talk or presentation typesInvited talk

  2. FASEB Science Research Conference: Melatonin Biology: Actions & Therapeutics

    Activity: Participating in or organising an event typesParticipation in conference

  3. Cold Spring Harbor Laboratory

    Activity: Visiting an external institution typesResearch and Teaching at External Organisation

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