'Lolita': a journey with Nabokov and Kubrick from the page to the screen

This paper could just as easily have been called Lolita: or how I learned to stop worrying the film wasn't like the book. When watching a film based on a novel or play most people compare it to the original work but should we be considering the film in its own right as a creative output? After all the film does not change the book nor it's creative nature. In 'Lolita' we have three creative elements: the novel, the script and the film. We have two main creative personas (or authors) Vladimir Nabokov and Stanley Kubrick. By understanding the creators and their contribution we can better understand the film as a work. In order to analyse the script it is impossible to look at the full screenplay. Therefore, I am going to concentrate on the presence of Clare Quilty and the characterisation of Lolita. I shall then look at Calder Willingham as a co-writer: Kubrick commissioned Willingham to write a full screenplay in 1959

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5–2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility

All This Stuff : Archiving the Artist

"All This Stuff: Archiving the Artist explores the documentation of the creative process. From their different viewpoints, fifteen leading artists, archivists and art historians, reflect on ways that artists and archivists deal with 'all this stuff', and how artists manage and relate to their own archives" -- p. [4] of cover

Whole-genome sequencing of patients with rare diseases in a national health system

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare