Using genetics and genomics to diagnose, understand and better treat disease. Consistent with our mission to use genetics and genomics to understand the mechanisms of disease and inform novel intervention strategies, our research has a broad focus that spans the full spectrum of single gene inherited forms of disease, such as cystic fibrosis, to common causes of ill health in adulthood that also have a genetic component, such as bone and joint disease.Our research is broadly grouped within two research sections, Genetic and Experimental Medicine and Translational Epidemiology. Cathy Abbott Research Group Translation factors in neurodevelopmental disorders Tim Aitman Research Group Diagnosis of rare recessive disease by exome sequencing Omar Albagha Research Group Genetic Determinants of Bone disease Peter Bankhead Research Group Bioimage analysis and digital pathology Chris Boyd Research Group Development of pulmonary gene therapy approaches to treat cystic fibrosis and other genetic diseases Sara Brown Research Group Molecular and genetic mechanisms in atopic eczema Helen Colhoun Research Group Diabetes Medical Informatics and Epidemiology Kathy Evans Research Group Neurodegenerative Disorders: Mechanisms and Drug Discovery Generation Scotland Research Group A family and population based cohort study for research into the genetic, environmental and sociodemographic influences on health over the life-course Erika Kague Research Group Molecular and cellular mechanisms in bone health and diseases Charlie Lees' Research Group Uncovering the causes of consequences of inflammatory bowel disease by studying the role of genes, the environment, diet and microbiota and their inter-relationships in gut health and disease Riccardo Marioni Research Group Genetics and epigenetics of cognitive ageing Stuart Ralston Research Group Pathogenesis and management of rheumatic and bone diseases Pippa Thomson Research Group The genetics of mental health and cognition Linda Bauld (Affiliate) Public Health Neil Carragher Research Group Drug Discovery Yanick Crow Research Group Genetic disorders of human neurological and immune function Sandi Deans (Affiliate) Provide external quality assessment and educational material for end to end genomic testing for laboratories and clinical genetics centres globally to promote good practice, standardisation and patient safety through Genomics Quality Assessment (GenQA). Helen Harris (Affiliate) Systemic Lupus Erythematosis patient observational studies, fatigue management research, interventional pharma led studies. Barbara Hauser (Affiliate) Translational and clinical aspects of osteoimmunology; osteoporosis pathogenesis and treatment Peter Kind (Affiliate) Examining cellular and circuit dysfunction associated with monogenic forms of autism and intellectual disability Andrew McIntosh (Affiliate) Using genetic discoveries to identify the mechanisms of mental illness and resilience Paul McKeigue (Affiliate) Methods for molecular and genetic epidemiology, with applications in clinical prediction and personalised medicine. Gerry McLachlan (Affiliate) Respiratory gene therapy. Preclinical large animal safety/efficacy studies Iain Nixon (Affiliate) ENT surgeon with an interest in academic medicine David Porteous (Emeritus) Identification of risk factors, disease processes and new treatments for common genetic disorders Philip Riches (Affiliate) Improving the care and understanding of gout, and exploring the pathogenesis of osteoporosis Daniel Smith (Affiliate) Genomic and data science approaches to understanding the pathophysiology of bipolar disorder Athina Spiliopoulou (Affiliate) Using statistical methods to answer questions on the pathogenesis, progression and treatment of disease. Jason Swedlow (Affiliate) Tools and capabilities for sharing, accessing and integrating multi-dimensional bioimaging and biomolecular data Veronique Vitart Research Group From GWAS to function Heather Whalley (Affiliate) The integration of human psychiatric neuroimaging with genetics (common and rare variants), epigenetics, and stem cell models, in the context of clinically-relevant research Jim Wilson Research Group (Affiliate) Quantitative traits in health and disease This article was published on 2024-09-23