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dc.contributor.advisorGecz, Jozef-
dc.contributor.advisorHaan, Eric Albert-
dc.contributor.authorMcMichael, Gai Lisette-
dc.date.issued2016-
dc.identifier.urihttp://hdl.handle.net/2440/103972-
dc.description.abstractThe main goal of genetic evaluation of individuals living with cerebral palsy is to understand the underlying origin of the disorder, so that those affected, their families and the wider community can benefit from further research leading to prevention, better management and ultimately, treatment. The advent of next generation sequencing technologies (NGS), in particular massively parallel sequencing, is a promising way forward in identifying the causes of, or contribution of genetic variation to, cerebral palsy. These technologies have been successful in increasing understanding of the causes of neurodevelopmental disorders whose phenotypes overlap with cerebral palsy (e.g. intellectual disability, autism and epilepsy), and provide an excellent way forward for cerebral palsy genetic research. However, they also bring with them new challenges, including determining which variants/genes are potentially pathogenic for cerebral palsy. We took an unbiased whole-exome sequencing approach to identify potential pathogenic variants for cerebral palsy in two groups of individuals with cerebral palsy: sporadic cases (no previous family history of cerebral palsy) and families with more than one individual with a confirmed diagnosis of cerebral palsy. Until our work, WES had only been performed in a small number of familial cases. Our overall findings suggest that cerebral palsy is genetically heterogeneous, involving mutations, mainly de novo, in previously known neurodevelopmental genes and novel candidate cerebral palsy genes. The de novo origin of these mutations may explain the typically sporadic nature of cerebral palsy, with most affected individuals having no apparent family history. De novo mutations are also associated with a sizable proportion of sporadic cases of ID and ASD and represent an important cause for both disorders.-
dc.subjectcerebral palsyen
dc.subjectgeneticsen
dc.subjectwhole exome sequencingen
dc.subjectResearch by Publication-
dc.titleThe genetic determinants of cerebral palsyen
dc.typeThesesen
dc.contributor.schoolSchool of Medicineen
dc.provenanceThis electronic version is made publicly available by the University of Adelaide in accordance with its open access policy for student theses. Copyright in this thesis remains with the author. This thesis may incorporate third party material which has been used by the author pursuant to Fair Dealing exceptions. If you are the owner of any included third party copyright material you wish to be removed from this electronic version, please complete the take down form located at: http://www.adelaide.edu.au/legalsen
dc.description.dissertationThesis (Ph.D.) (Research by Publication) -- University of Adelaide, School of Medicine, 2016.en
dc.identifier.doi10.4225/55/58d205e315cc9-
Appears in Collections:Research Theses

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