Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)

Abstract Causative genetic variants have to date been identified for only a small proportion of familial colorectal cancer (CRC). While conditions such as Familial Adenomatous Polyposis and Lynch syndrome have well defined genetic causes, the search for variants underlying the remainder of familial CRC is plagued by genetic heterogeneity. The recent identification of families with a heritable predisposition to malignancies arising through the serrated pathway (familial serrated neoplasia or Jass syndrome) provides an opportunity to study a subset of familial CRC in which heterogeneity may be greatly reduced. A genome-wide linkage screen was performed on a large family displaying a dominantly-inherited predisposition to serrated neoplasia genotyped using the Affymetrix GeneChip Human Mapping 10 K SNP Array. Parametric and nonparametric analyses were performed and resulting regions of interest, as well as previously reported CRC susceptibility loci at 3q22, 7q31 and 9q22, were followed up by finemapping in 10 serrated neoplasia families. Genome-wide linkage analysis revealed regions of interest at 2p25.2-p25.1, 2q24.3-q37.1 and 8p21.2-q12.1. Finemapping linkage and haplotype analyses identified 2q32.2-q33.3 as the region most likely to harbour linkage, with heterogeneity logarithm of the odds (HLOD) 2.09 and nonparametric linkage (NPL) score 2.36 (P = 0.004). Five primary candidate genes (CFLAR, CASP10, CASP8, FZD7 and BMPR2) were sequenced and no segregating variants identified. There was no evidence of linkage to previously reported loci on chromosomes 3, 7 and 9.

Surveying the state of higher education in energy efficiency, in Australian engineering curriculum

This paper presents the method and results of a survey of 27 of the 33 Australian universities teaching engineering education in late 2007, undertaken by The Natural Edge Project (hosted by Griffith University and the Australian National University) and supported by the National Framework for Energy Efficiency. This survey aimed to ascertain the extent of energy efficiency (EE) education, and to identify preferred methods to assist in increasing the extent to which EE education is embedded in engineering curriculum. In this paper the context for the survey is supported by a summary of the key results from a variety of surveys undertaken over the last decade internationally. The paper concludes that EE education across universities and engineering disciplines in Australia is currently highly variable and ad hoc. Based on the results of the survey, this paper highlights a number of preferred options to support educators to embed sustainability within engineering programs, and future opportunities for monitoring EE, within the context of engineering education for sustainable development (EESD).