Computational Neuroscience Commons^™

The Genomics Of Champ1: Insights Into Their Cell-Type Specificity And Developmental Trajectories, Zoe Marie Van Caugherty

MUSC Theses and Dissertations

Chromosome alignment maintaining phosphoprotein 1(CHAMP1) is a gene that encodes a zinc finger protein that is involved in in the maintenance of kinetochore-microtubule attachment and regulating chromosome segregation in mitosis. (Itoh et al., 2011) CHAMP1 mutations have been shown to be major risk factors for neurodevelopmental disorders (NDDs) and autism spectrum disorder (ASD).(Asakura et al., 2021; Isidor et al., 2016; Levy et al., 2022) Although there is information on the link between CHAMP1 mutations and NDD, the role of CHAMP1 in regulating processes of human cortical development, namely, neurogenesis, proliferation, and electrophysiological properties of newly born neurons, is unknown. This …

Identifying Functional Imaging Markers In Psychosis Using Fmri, Ruiqi Wang

MUSC Theses and Dissertations

Major types of psychotic disorders include schizophrenia (SCZ), bipolar disorder (BP) and schizoaffective disorder (SZA). These disorders have profound and overlapping symptoms with marked cognitive deficits, and their diagnosis relies on symptom clusters. The treatments for psychosis are usually focused on positive symptoms such as delusions and hallucinations. Although cognitive impairments underlie both positive and negative symptoms, functional brain imaging biomarkers that can reliably predict a patient's cognitive deficits are still lacking. Therefore, this project used functional MRI to explore the feasibility of using functional connectivity (FC) to predict cognitive performance.

A total of 207 subjects (BP: 79, SZ/SZA: 48, …

The Genomics Of Autism-Related Genes Il1rapl1 And Il1rapl2: Insights Into Their Cortical Distribution, Cell-Type Specificity, And Developmental Trajectories, Jacob Weaver

MUSC Theses and Dissertations

Neuropsychiatric disorders have a significant impact on modern society. These disorders affect a large percentage of the population: schizophrenia has a world-wide prevalence of 1% and autism spectrum disorders (ASD) affects 1 in 59 school-aged children in the US. There is substantial evidence that most neuropsychiatric disorders have a genetic component. Thus, with the advent of high throughput sequencing much effort has gone into identifying genetic variants associated with these disorders. The emerging picture from these studies is a complex one where hundreds of genes with small effects interact with a varied landscape of common variants to result in disease. …