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Cardiovascular Disease and Metabolic Syndrome Bioinformatics and Statistical Genetics Circadian and Visual Neuroscience
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Research Areas at the Wellcome Trust Centre for Human Genetics The Centre is focused on four main disease areas:
Genetics of inflammation and immunity Genetics of cardiovascular disease/metabolic syndrome Transgenics
In addition there are programmes of research in structural biology, bioinformatics and statistical genetics, and nano-biotechnology. This page summarizes the research at the Centre. For further information, follow the links to the individual group pages.
Professor Anthony P Monaco Wellcome Principal Research Scientist, Director of The Wellcome Trust Centre for Human Genetics Neurodevelopmental and Neurological Disorders Professor Monaco's research concentrates on understanding the genetic basis of developmental disorders in children including autism, specific language impairment and reading disability (dyslexia). He also has projects on the molecular basis of the degenerative neurological disorder, autosomal recessive chroreacanthocytosis and the function of the Menkes disease gene which encodes a copper transporting ATPase.
Professor George C. Ebers Chair of the Department of Clinical Neurology Genetic Susceptibility to Neurological Disorders The main research interests of the Ebers Research group at the
Wellcome Trust Centre for Human Genetics are to investigate complex
neurological diseases. Professor Ebers is the principal
investigator of a large study of epidemiology, genetics and
environmental factors involved in multiple sclerosis, as well as
the study of genetic susceptibility to episodic ataxia and
migraine.
Professor Jonathan Flint Wellcome Trust Senior Clinical Fellow Mapping Genes For Anxiety and Depression This programme in psychiatric genetics focuses on defining susceptibility loci in anxiety and depression. Originally based around QTL mapping models, Dr Flint has recently moved into genetic mapping of anxiety disorders.
Dr Simon Fisher Royal Society Research Fellow Dissecting neuromolecular mechanisms that are critical for speech and language Dr. Fisher's group are using the tools of molecular neuroscience to explore brain pathways that are important for speech and language development. They are currently investigating the role of FOXP2 and related genes in the development of the central nervous system via a number of complementary approaches. FOXP2 is the first known gene to have been clearly implicated in a speech and language disorder.
Genetics of Inflammation and Immunity
Professor Adrian Hill Wellcome Trust Principal Research Scientist Genetics of susceptibility to Malaria and Tuberculosis This programme aims to understand the genetic basis of variable susceptibility to malaria and mycobacterial tuberculosis in African and Asian populations along with the genetic and acquired basis of variable immune responses to malarial parasites and mycobacteria. The Group is also developing new vaccines suitable for inducing cytotoxic T lymphocytes that will protect against these pathogens.
Dr Matthew Brown Arthritis Research Campaign, Senior Research Fellow Genetics of Arthritis and Bone Diseases Dr Brown's group aims to identify genes involved in common forms of arthritis and bone diseases including ankylosing spondylitis, osteoporosis, chondrocalcinosis and rheumatoid arthritis. These conditions combined affect more than a quarter of the adult population.
Professor Dominic Kwiatkowski MRC Clinical Research Professor Genomics and Global Health Prof. Kwiatkowski's group work mainly on malaria and bronchiolitis, two major causes of childhood illness and death worldwide. They are using genetic epidemiology to define molecular determinants of pathogenesis and immunity that are important for vaccine development, with a particular interest in defining functional genetic variants that regulate the production of cytokines and other immune mediators.
Dr Julian Knight Wellcome Trust Senior Clinical Fellow Regulatory polymorphism of the MHC This work aims to define functionally important genetic variation which modulates gene expression in the Major Histocompatibility Complex Class III region. This is a genomic locus implicated in many infectious, inflammatory and autoimmune diseases. Genetics of Cardiovascular Disease and the Metabolic Syndrome
Professor Hugh Watkins Field Marshall Alexander Professor of Cardiovascular Medicine, Director Wellcome Cardiovascular Initiative (Oxford) Genetics of Cardiovascular Risk Factors and overlapping Metabolic Disorders Including Type II Diabetes Professor Watkins directs the Wellcome Trust Cardiovascular Initiative from the WTCHG. His interest in the genetic basis of cardiac hypertrophy relates well to the existing hypertension programme (BRIGHT) in the Centre and he is leading the PROCARDIS collaborative programme on coronary artery disease. Oxford has acted as the Centre for Type II diabetes genotyping as part of the British Diabetes Association Study. The Warren Repository programme has previously been led by Professor Mark Lathrop in the Centre and has both models and human families available to study. Positional cloning of susceptibility loci, via derivation of congenic lines, is to proceed under the direction of Dr Dominique Gauguier, a Wellcome Trust Senior Fellow. Human genotyping and positional cloning is led by Dr Mark McCarthy, funded by the BDA. Bioinformatics and Statistical Genetics
Dr Richard Mott, Dr Richard Copley In addition to its service role, the bioinformatics group carries out research into statistical genetics, particularly variance components, QTL mapping and twin analysis, and into protein/DNA sequence alignment. The Core Genomics Group carries out research on microarray technology and on functional assays for SNPs. Current functional genomics works focuses on
The work includes the characterisation of cases with deletions of chromosome 6p, the characterisation of the Del13Svea36H mouse carrying a deletion on chromosome 13 in a segment homologous to 6p2-23 and 6p25 and of ENU mutant mice resulting from the recessive mutagenesis screen carried out at the Mammalian Genetics Unit in Harwell.
Molecular Cytogenetics Dr Emanuela Volpi The research interests of the Molecular Cytogenetics group lie with the functional organisation of chromosomes in interphase and the epigenetic impact of nuclear architecture. The group also researches into novel in situ based applications for genome architecture and gene expression studies.
The main objective of the Nanogenomics group is to use single molecule detection to develop experimental tools that will accelerate the finding of genomic factors that contribute to complex traits. In addition to single molecule techniques, the work of the group involves molecular biology, fluorescence microscopy, microarray/DNA chips, instrumentation, bioinformatics and nanotechnology.
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