Dr Kirsty Millar



I trained in biochemistry at the University of Edinburgh then went on to do a PhD studying DNA ligase I with Prof David Melton, one of the leaders in the field of gene targeting. After a short period of post-doctoral training at the MRC Reproductive Sciences Unit, I joined Professor David Porteous at the MRC Human Genetics Unit in 1995, followed by a move to the University of Edinburgh in 2000, to study a unique Scottish family in which a balanced t(1;11) chromosomal translocation substantially increases risk of schizophrenia, bipolar disorder and depression. This family has been a major focus of my work since 1995.

Through study of this family I identified the gene Disrupted In Schizophrenia 1 (DISC1) as a potential risk factor for major mental illness because it is directly disrupted by the translocation. In addition to the translocation, a number of genetic variants have been identified that alter the DISC1 protein sequence and potentially influence the risk of developing a psychiatric disorder.

I am working towards increased understanding of the molecular pathways that underlie major mental illness, with the aim of eventually identifying and testing drug targets and small molecules that regulate these pathways. DISC1 controls important brain processes, such as generation of neurons and neuronal signalling, but the mechanisms by which it does so are not fully understood. To investigate this I am studying a key subset of DISC1 interactors including the cAMP phosphodiesterase PDE4 that regulates cAMP signalling, the kinase GSK3b that regulates multiple signalling pathways, and the trafficking molecules NDE1 and NDEL1. All of these proteins are essential for important aspects of brain development and function. Moreover PDE4 and NDE1 have been independently implicated as potential risk factors for major mental illness, while GSK3b is a target of Lithium, used to treat mood disorders. I am using a variety of model systems to study the consequences of altered DISC1 expression or DISC1 sequence variants for neuronal function to identify mechanisms that may be dysfunctional in psychiatric patients. My work points to deficits in cAMP signalling and in intracellular trafficking, including mitochondrial dynamics, as potential contributory factors in mental illness. I am studying these, and other aspects of DISC1 function, in induced pluripotent stem cell-derived neurons originating from psychiatric patients carrying chromosomal anomalies including the t(1;11) translocation. These cells are being generated through the generosity of psychiatric patients and their families, and in collaboration with Professors Douglas Blackwood, Andrew McIntosh and Siddharthan Chandran at the University of Edinburgh


I co-organise and teach the ‘Genetic and environmental influences on behaviour & mental health’ honours course and lecture on the MSc courses ‘Genes and disease’ and ‘Quantitative genetic and genome analysis’.

Employment History

Reader (2012-present): University of Edinburgh Centre for Genomic and Experimental Medicine Senior Lecturer (2010-1012): University of Edinburgh Molecular Medicine Centre RC-UK Fellow (2005-2010): University of Edinburgh Molecular Medicine Centre Research Fellow (2003-2005): University of Edinburgh Molecular Medicine Centre Caledonian Research Foundation Fellow (2000-2003): University of Edinburgh Molecular Medicine Centre Post-doctoral researcher (1995-2000): MRC Human Genetics Unit Post-doctoral researcher (1994-1995): MRC Centre for Reproductive Biology


Academic Qualifications

PhD in molecular biology awarded 1994 at the University of Edinburgh

BSc: 1st class honours biochemistry awarded 1990 at the University of Edinburgh