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Title: Recognition and delineation of new phenotypes in human genetic disorders
Author: Morrison, P. J.
ISNI:       0000 0004 2745 1960
Awarding Body: Queen's University Belfast
Current Institution: Queen's University Belfast
Date of Award: 2013
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Over the last twenty-five years, there have been considerable advances in the genetics of several disorders. New phenotypes have been identified, and evidence has been accumulated to allow better management of hereditary diseases. This thesis shows how the genetics in four areas - cancer genetics, neurogenetics, anti- epileptic drug effects in pregnancy, and newly recognised phenotypes in both common and rare disorders - has advanced. Cancer genetics has progressed to allow molecular diagnosis of hereditary cancer, and improved screening, management and treatment options. A number of new genes have been identified and some modifier genes including those modifying BRCAl, BRCA2 and other breast-ovarian disorders are discussed. Advances in the genetics of neurological diseases particularly hereditary ataxias are outlined with the evidence base for management of ataxias and their revised classification. The role of modifier genes involved in Huntington disease is discussed. The accumulation of recent evidence in the aetiology and management of mothers with epilepsy who are taking antiepileptic drug therapy is discussed, along with the teratogenic effects on the fetus and newbom infants. Finally, a number of new and more widely delineated phenotypes of common and rare genetic disorders are described including single gene, chromosomal and syndromic diseases. Multifactorial diseases are also discussed in which a small but significant hereditary component has now been recognised.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (DSc.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available