Boyd, AnnTaylor, Kelly2018-03-292018-03-292018-02-25http://hdl.handle.net/11603/7903KBG Syndrome is a rare disease with a widely variable phenotype and a single known genetic cause. Different aberrations, including both sequencing and copy number variants, within the ANKRD11 gene produce KBG Syndrome. The genotype/phenotype correlation of this gene has been well studied but not enough research exists yet on how this disease progresses. Using primary somatic cells from KBG patients, the patients’ somatic cells will be converted into pluripotent stem cells and then differentiated into neurons. Since the cell lines will be generated using cells from affected patients, KBG-specific mutations will already be present. Each cell line will be grown into separate cultures, half of which will be edited and repaired using the CRISPR/Cas9 system. Protein accumulation and regulation analysis will be done using protein microarrays to observe and compare the mutated cell line and the repaired cell line. This study aims to focus on understanding more of the mechanisms behind the disease and to determine more of the functional aspects of how this disease develops and progresses.41 pagesen-USAttribution-NonCommercial-NoDerivs 3.0 United Stateshttp://creativecommons.org/licenses/by-nc-nd/3.0/us/Mock Grant ProposalBiomedical ScienceBMSText