| 1. |
- Hudson, Thomas J., et al.
(författare)
-
International network of cancer genome projects
- 2010
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7291, s. 993-998
-
Tidskriftsartikel (refereegranskat)abstract
- The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
|
|
| 2. |
- Sims, Caroline
(författare)
-
From 'the Genius' to 'the Gifted' : The Conceptualisations of Giftedness in Educational Discourse in Sweden
- 2023
-
Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The aim of the current thesis is to investigate the conceptualisation of giftedness in educational discourse within Sweden. In the thesis, this is studied through an account of giftedness and the ’formation of the gifted subject’. The study is set in the context of educational reform history, a retracing back to points where certain routes rather than others became travelled, and an analysis of the development from there on. In the centre of the investigation are teachers and the roles they play in relation to teaching gifted students, defining, and identifying them.In the study, the conceptualisations are traced through two sources of data. The first focuses on giftedness as formulated in the policy documents regulating Swedish education from 1820 until 2022. During this time, education was restructured from two parallel school systems to become integrated into one shared system based on ideals of democracy, equity, and inclusion. The second source of data consists in interviews with teachers who enact these policies. These teachers teach in Swedish national education and have a focus specifically on giftedness, or teach in the International Baccalaureate Diploma Programme, or in three versions of Peak Programme (spetsutbildning). The text analysis follows the transition from a situation where aspects of giftedness are explicitly mentioned in policy to a situation in which they are invisible, or possibly hidden inside other categories. When giftedness is reintroduced in policy it is done so with a strong focus on shortcomings and by the use of a terminology similar to that of diagnosis. The enacted policy analysis shows how teachers find enabling factors in their teaching while being constrained by other factors. The results reveal that giftedness is conceptualised against the background of different rationalities at different points in history. Of the more dominant is a rationality based on quantification and psychological measures which has direct implications on how gifted students are treated by the system. This is also where tension is identified between giftedness in relation to a sense of normality or deviance, between expectations on collectivism and individualism, and between equity and excellence.
|
|
| 3. |
|
|
| 4. |
- Wray, Selina, et al.
(författare)
-
Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research
- 2012
-
Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 7:8
-
Tidskriftsartikel (refereegranskat)abstract
- Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and animal models that can be used to understand the underlying molecular pathology. Recently, there has been a surge of interest in the use of patient-derived cells, due to the development of induced pluripotent stem cells and their subsequent differentiation into neurons and glia. Access to patient cell lines carrying the relevant mutations is a limiting factor for many centres wishing to pursue this research. We have therefore generated an open-access collection of fibroblast lines from patients carrying mutations linked to neurological disease. These cell lines have been deposited in the National Institute for Neurological Disorders and Stroke (NINDS) Repository at the Coriell Institute for Medical Research and can be requested by any research group for use in in vitro disease modelling. There are currently 71 mutation-defined cell lines available for request from a wide range of neurological disorders and this collection will be continually expanded. This represents a significant resource that will advance the use of patient cells as disease models by the scientific community.
|
|
