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Title: Refining the phenotype and genotype of primary lymphoedema
Author: Gordon , Kristiana
ISNI:       0000 0004 5372 4221
Awarding Body: St George's, University of London
Current Institution: St George's, University of London
Date of Award: 2014
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The background to this research is the primary lymphoedema clinic held at St George's Hospital, London. This is a multidisciplinary clinic run by the combined expertise of dermatology and genetic teams, and is the only one of its kind in the UK. The aim of the service is to diagnose, investigate and manage patients with primary lymphoedema. To date, 7 genes are known to cause a phenotype where lymphoedema predominates. The main aim of my MO(Res) project was to use and refine Connell et aI's diagnostic classification pathway (Connell, Brice et al. 2010) for patients with primary lymphoedema in order to identify phenotypically similar groups of patients who could then be the subject of molecular investigation. This, in turn, would hopefully lead to the discovery of new genotypes responsible for subtypes of primary lymphoedema . Lymphangiogenesis, lymphoedema, its clinical features, diagnosis and investigation modalities, and the well -established phenotypes of primary lymphoedema are discussed in the introduction. The laboratory techniques that have been used (including Sanger sequencing and next generation sequencing) are described. Subsequent chapters describe the individual projects that have been carried out in an effort to phenotype and genotype cohorts of patients with primary lymphoedema, including the discovery of a new causal gene for primary lymphoedema. One chapter is dedicated to the development of magnetic resonance lymphangiography (MRL) as an investigative tool in patients with lymphoedema to improve accurate phenotyping of the subgroups, as current imaging techniques are limited. Finally, Connell et aI's diagnostic pathway has been updated on the basis of new findings.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (M.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available