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Investigating The Role Of Schizophrenia-Associated Gene Expression In The Developing Human Brain Using Machine Learning, Katie Kelly

Masters

Schizophrenia is a debilitating condition that affects 1% of the population, causes significant hardship and though there are treatments available they are characterised by several limitations. It is a complex mental disorder where some individuals show mild subclinical cognitive symptoms before psychosis onset in adolescence. The treatments available only target a portion of the symptoms and although extensive research has been conducted, a comprehensive understanding of the nature of schizophrenia remains elusive. Unlike other neurodevelopmental disorders, schizophrenia symptoms do not typically present themselves until adolescence. This study aimed to discover gene co-expression networks at multiple developmental stages to identify candidate …

Genome-Wide Dna Methylation Meta-Analysis In The Brains Of Suicide Completers, Stefanie Policicchio, Sam Washer, Joana Viana, Artemis Latrou, Joe Burrage, Eilis Hannon, Gustavo Turecki, Zachary Kaminsky, Jonathan Mill, Emma L. Dempster, Therese Murphy

Articles

Suicide is the second leading cause of death globally among young people representing a significant global health burden. Although the molecular correlates of suicide remains poorly understood, it has been hypothesised that epigenomic processes may play a role. The objective of this study was to identify suicide-associated DNA methylation changes in the human brain by utilising previously published and unpublished methylomic datasets. We analysed prefrontal cortex (PFC, n = 211) and cerebellum (CER, n = 114) DNA methylation profiles from suicide completers and non-psychiatric, sudden-death controls, meta-analysing data from independent cohorts for each brain region separately. We report evidence for …

Heterogeneity Of Disease-Causing Variants In The Swedish Galactosemia Population: Identification Of 16 Novel Galt Variants, Annika Ohlsson, Mary Hunt, Anna Wedell, Ulrika Von Döbeln

Articles

The aim was to determine disease-causing variants in the GALT gene which codes for the enzyme galactose-1-phosphate uridylyltransferase. Loss of activity of this enzyme causes classical galactosemia-a life threatening, treatable disorder, included in the Swedish newborn screening program since 1967. A total of 66 patients with the disease are known in Sweden and 56 index patients were investigated. An additional two patients with Duarte galactosemia were included. The disease-causing variants were identified in all patients. As reported from other countries only a few variants frequently recur in severe disease. The two variants p.(Gln188Arg) (c.563A>G) and p.(Met142Lys) (c.425T>A) are …

Novel Myopia Genes And Pathways Identified From Syndromic Forms Of Myopia, Daniel Ian Flitcroft, James Loughman, Christine Wildsoet, Cathy Williams, Jeremy A. Guggenheim

Articles

PURPOSE. To test the hypothesis that genes known to cause clinical syndromes featuring myopia also harbor polymorphisms contributing to nonsyndromic refractive errors. METHODS. Clinical phenotypes and syndromes that have refractive errors as a recognized feature were identified using the Online Mendelian Inheritance in Man (OMIM) database. One hundred fifty-four unique causative genes were identified, of which 119 were specifically linked with myopia and 114 represented syndromic myopia (i.e., myopia and at least one other clinical feature). Myopia was the only refractive error listed for 98 genes and hyperopia and the only refractive error noted for 28 genes, with the remaining …

Novel Myopia Genes And Pathways Identified From Syndromic Forms Of Myopia, Daniel Ian Flitcroft, James Loughman, Christine F. Wildsoet, Cathy Williams, Jeremy A. Guggenheim

Articles

P URPOSE . To test the hypothesis that genes known to cause clinical syndromes featuring myopia also harbor polymorphisms contributing to nonsyndromic refractive errors.

Epidemiological, Clinical And Genetic Aspects Of Adult Onset Isolated Focal Dystonia In Ireland, L. Williams, E. Mcgovern, O. Kimmich, A. Molloy, I. Beiser, John Butler, F. Molloy, P. Logan, D.G. Healy, T. Lynch, R. Walsh, L. Cassidy, P. Moriarty, H. Moore, T. Mcswiney, C. Walsh, S. O'Riordan, M. Hutchinson

Articles

Background: Adult onset idiopathic isolated focal dystonia presents with a number of phenotypes. Reported prevalence rates vary considerably; well-characterized cohorts are important to our understanding of this disorder.

Aim: To perform a nationwide epidemiological study of adult onset idiopathic isolated focal dystonia in the Republic of Ireland.

Methods: Patients with adult onset idiopathic isolated focal dystonia were recruited from multiple sources. Diagnosis was based on assessment by a neurologist with an expertise in movement disorders. When consent was obtained, a number of clinical features including family history were assessed.

Results: On the prevalence date there were 592 individuals in Ireland …

Novel Myopia Genes And Pathways Identified From Syndromic Forms Of Myopia, Daniel Ian Flitcroft, James Loughman, Christine F. Wildsoet, Cathy Williams, Jeremy A. Guggenheim

Articles

Clinical phenotypes and syndromes that have refractive errors as a recognized feature were identified using the Online Mendelian Inheritance in Man (OMIM) database. One hundred fifty-four unique causative genes were identified, of which 119 were specifically linked with myopia and 114 represented syndromic myopia (i.e., myopia and at least one other clinical feature). Myopia was the only refractive error listed for 98 genes and hyperopia and the only refractive error noted for 28 genes, with the remaining 28 genes linked to phenotypes with multiple forms of refractive error. Pathway analysis was carried out to find biological processes overrepresented within these …