17 research outputs found
Technical degrees and higher vocational education
This paper focuses on the proposals for the introduction of
‘technical degrees’ in English higher education institutions
advanced by the Labour Party’s Liam Byrne in a document
entitled ‘Robbins Rebooted’ which was published in August
2014 by the Social Market Foundation. The context and
rationale for the proposed technical degrees is discussed,
identifying assumptions and implications of the proposed
policy. Drawing on studies of related workforce development
and higher vocational initiatives, potential problems that
could arise with the implementation of the policy are
outlined. This leads on to a discussion on whether the
curriculum that technical degrees would offer would be an
adequate preparation for work and whether the qualifications
in themselves would achieve as much credibility as alternative routes through higher education. In the event, the opportunity to introduce technical degrees in the form advanced by Byrne did not arise, as the Labour Party lost the general election in 2015 and did not return to office
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being the most frequent mutation in Caucasians. Although a genotype-phenotype correlation has been established for most GJB2 genotypes, the HL of 35delG homozygous patients is mild to profound. We hypothesise that this phenotypic variability is at least partly caused by the influence of modifier genes. By performing a whole-genome association (WGA) study on 35delG homozygotes, we sought to identify modifier genes. The association study was performed by comparing the genotypes of mild/moderate cases and profound cases. The first analysis included a pooling-based WGA study of a first set of 255 samples by using both the Illumina 550K and Affymetrix 500K chips. This analysis resulted in a ranking of all analysed single-nucleotide polymorphisms (SNPs) according to their P-values. The top 250 most significantly associated SNPs were genotyped individually in the same sample set. All 192 SNPs that still had significant P-values were genotyped in a second independent set of 297 samples for replication. The significant P-values were replicated in nine SNPs, with combined P-values between 3 x 10(-3) and 1 x 10(-4). This study suggests that the phenotypic variability in 35delG homozygous patients cannot be explained by the effect of one major modifier gene. Significantly associated SNPs may reflect a small modifying effect on the phenotype. Increasing the power of the study will be of greatest importance to confirm these results