Exploration of RNAi-based therapeutic strategies for dominantly inherited disorders
Citation:
Danny Allen, 'Exploration of RNAi-based therapeutic strategies for dominantly inherited disorders', [thesis], Trinity College (Dublin, Ireland). Department of Genetics, 2006, pp 283Download Item:
Allen TCD THESIS 7814 Exploration of.pdf (PDF) 146.4Mb
Abstract:
The primary aim of this thesis was to explore genetic agents with the ability
to suppress expression of certain gene products i.e. those involved in the
etiology of dominant disorders such as osteogenesis imperfecta (OI) and
dominant dystrophic epidermolysis bullosa (dDEB). OI and dDEB are
inherited in an autosomal dominant fashion and have a high level of
intragenic heterogeneity. Over 150 and 80 mutations in the COL1A1 and
COL1A2 genes respectively are known to give rise to OI and over 200
mutations have been reported in the COL7A1 gene in dDEB patients.
Given this mutational diversity a mutation-independent therapeutic
approach using ribozymes and RNAi interference (RNAi) is being
developed. This approach follows a suppression and replacement strategy
previously described. The focus of the study described here is the design,
generation and evaluation of key elements of this therapeutic approach.
Author: Allen, Danny
Advisor:
Farrar, JaneQualification name:
Doctor of Philosophy (Ph.D.)Publisher:
Trinity College (Dublin, Ireland). Department of GeneticsNote:
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Full text availableKeywords:
Genetics, Ph.D., Ph.D. Trinity College DublinLicences: