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Title: Development of pre-implantation genetic diagnosis for dominantly inherited cancer predisposition syndromes
Author: Abou Sleiman, Patrick Martin
ISNI:       0000 0001 3391 3242
Awarding Body: University of London
Current Institution: University College London (University of London)
Date of Award: 2001
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Prenatal diagnosis has been available for certain genetic disorders since the late 1960's. Over the past 30 years the range of disorders covered has steadily grown to encompass the vast majority of genetic diseases. However, prenatal diagnosis can not be presented as a global solution, due to the significant numbers of people opposed to the termination of affected fetuses, either on religious or moral grounds. Prenatal diagnoses for a number of inherited cancer predisposition syndromes have been available for some time, however, despite the potential severity of these disorders the rate of uptake has been low. It has been proposed that parents could find it difficult to justify the termination of a fetus which might be unaffected until the second or third decade of life. Pre-implantation diagnosis has proven to be a viable alternative in such cases as it allows the initiation of a pregnancy in the knowledge that the fetus is unaffected by the inherited genetic disorder. Pre-implantation genetic diagnosis (PGD) is carried out on one or two cells biopsied from an eight cell embryo. In vitro fertilisation techniques are utilised to generate the embryos and the diagnosis is performed on day three of development. Allowing the selective transfer of unaffected embryos to the mother. During the course of this study, specific diagnoses have been developed for three inherited cancer predisposition syndromes; Retinoblastoma, Familial adenomatous polyposis coli (FAPC) and Neurofibromatosis type 2. In addition a protocol was devised for one other dominant disorder, Crouzon syndrome. And one recessive disorder, β-thalassaemia. This work has provided access to a rare and valuable resource, human preimplantation embryos. Embryos surplus to the requirement of in vitro fertilisation cycles were used to investigate the expression patterns of two tumour suppressor genes, TP53 and APC. Work on animal models, has previously shown these genes to be essential for the normal development of the pre-implantation embryo.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available