Newcastle University

Cardiovascular Research Group

Research Achievements

Arthur: Generation and investigation of Endoglin knockout mouse, contributions on the role of Endoglin and TGF-beta signalling in angiogenesis.

Goodship: Identification of Ellis-van Creveld syndrome gene in humans, functional analysis of inversin, a major determinant of left-right axis, contributions on genetic epidemiology of congenital heart disease.

Henderson: Investigation of mouse models of congenital heart disease, notably the VANGL2, CITED2 and Sp2H mutants.

Keavney: Numerous contributions in large-scale genetic epidemiology of cardiovascular disease and quantitative trait genetics.

Strachan: Functional analysis of inversin. Electronic atlas of gene expression in early human development (with focus on brain and heart).

Research Strategy

Our complementary strengths will enable us to take a comprehensive approach to the investigation of genetic determinants of cardiovascular development and disease. Large-scale genetic epidemiology (Keavney, Goodship) will investigate the relevance, in human populations, of candidate genes identified by study of existing mutants and gene targeting experiments in animal models (Arthur, Henderson). In the reverse direction, novel candidate genes identified as a result of human studies will undergo functional investigation in model systems (as undertaken by Goodship's group in the case of the Ellis-van Creveld syndrome gene). Building up an electronic atlas of gene expression in early human development in the Wellcome/MRC Human Developmental Biology Resource is critical to understanding congenital malformations; application will be made early in the New Year under a new BHF initiative to implement this approach in human cardiovascular development (Strachan).

Further information about this area of research can be found at the Institute of Genetic Medicine

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