Date of Award

August 2014

Document Type

Dissertation

Degree Name

Doctor of Philosophy (PhD)

Department

Genetics and Biochemistry

Committee Member

Julia Eggert

Committee Member

Margaret A Wetsel

Committee Member

D. Matthew Boyer

Committee Member

Alex Feltus

Committee Member

Brent Satterfield

Abstract

Translational processes are needed to move research development, methods, and techniques into clinical application. The knowledge to action framework organizes this bench to bedside process through three phases including: research, translation, and institutionalization without being specific to one disease or condition. The overall goal of this research is to bridge gaps in the translational process from assay development to disease detection through a mixed methods approach. A literature review identifies gaps associated with intestinal permeability and autism spectrum disorders. Mining social media related to autism and GI symptoms captures self-reported or observed data, identifies patterns and themes within the data, and works to translate that knowledge into healthcare applications. Development of novel tests can then examine relationships between zonulin levels, haptoglobin genotype, and autism spectrum disorders, and propose a paradigm shift in the use of proteomics and genomic diagnostic testing from clinical diagnosis to pre-symptomatic testing. Although results from this study do not find statistically significant relationships between zonulin and autism spectrum disorders, they do suggest clinical significance and the need to conduct larger studies. The discovery presents a novel approach for measuring intestinal permeability. Qualitative and quantitative methods collaboratively point toward implementation of molecular and data mining techniques in the development and evaluation of early diagnostic tests and interventions. Equally, the two methods working together drive the field forward in design and development to strengthen the outcomes.

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