Diagnosis of rare recessive disease by exome sequencing Director: Centre for Genomic & Experimental Medicine Section: Genetic and Experimental Medicine Professor Tim Aitman Director: CGEM, Chair of Molecular Pathology and Genetics Contact details Email: tim.aitman@ed.ac.uk Research in a NutshellThe Aitman lab’s research combines the use of classical genetics with modern cutting edge genome technologies such as whole-genome-sequencing and epigenome analysis to unravel the genetics of both common and rare human disorders. These include common syndromes of insulin resistance that predispose to diabetes and heart disease, and autoimmune diseases such as systemic lupus. The combined use of linkage analysis and microarray-based expression profiling led to identification of genes predisposing to insulin resistance (Cd36) systemic lupus (Fcgr3) and cardiac hypertrophy (Ogn). The Aitman lab also led the sequencing and the first evolutionary analysis of rat genomes, identifying artificial selection pressures underlying any disease phenotype.In the clinical setting, the group has used next generation sequencing to detect the genetic basis of NHS patients with a range of rare diseases including familial hypercholesterolaemia, Ehlers Danlos Syndrome, nephrotic syndrome, thoracic aortic aneurysm and motor neurone disease.In collaboration with the CRUK Edinburgh Centre, the Genome Medicine Group is developing new methods for analysis of cell-free DNA, for diagnosis and stratification of cancer. Integrated use of high throughput sequencing and digital droplet PCR, for analysis of somatic mutations and epimutations specific to breast, kidney and head/neck cancer, will aim to provide enhanced diagnostic molecular markers in early and late-stage cancer.In collaboration with Professor Mark Bradley, Professor Tim Aitman founded the company BioCaptiva, which spun-out from the University in April 2021, from funding from the investment syndicate Archangel Investment Ltd, Cancer Research UK and Scottish Enterprise. Professor Tim Aitman Profile Research Programme Contact NameRole Professor Tim Aitman Group Leader and Director of CGEMDonna MunroCentre AdministratorDaniel Toddie-MooreScientific Research and Funding ManagerMartyna AdamowiczResearch FellowChristelle RobertPostdoctoral ScientistJohn PoundResearch Assistant Key Publications Tim Aitman Research Explorer Profile Collaborations Professors Siddharthan Chandran and Colin Smith, University of EdinburghProfessors Margaret Frame, Charlie Gourley and Dr Olga Oikonomidou, University of EdinburghProfessor Mary Porteous, NHS Lothian and University of EdinburghProfessor John Mullins, University of EdinburghProfessors Josef Penninger, Institute of Molecular Biotechnology, Vienna and Michael Schneider, Imperial College, LondonProfessors Andrew Biankin, University of Glasgow and Zofia Miedzybrodzka, University of AberdeenProfessors Mark Arends and Simon Herrington, University of EdinburghProfessor Colin Semple, University of Edinburgh Partners and Funders Medical Research Council (MRC)Scottish Chief Scientist Office (CSO)European Research Council (ERC)CRUK Edinburgh CentreAstraZenecaIlluminaBiogen Scientific Themes Genetics, genomics and epigenetics of common and rare diseases Technology Expertise Whole genome, transcriptome and epigenome sequencing, genome informatics, biomarker discovery This article was published on 2024-09-23