Medical Genetics Commons^™

Unlocking The Pediatric Transcriptome: A Combinatorial Approach For Total Rna Analysis, William Schleif

All Dissertations

The transcriptome is an oft-studied target in the pursuit to better understand the functional elements of the human genome as part of genomic research. The transcriptome possesses its own unique set of challenges that hamper utilization of RNA-based discoveries and translation into actionable findings. Scientific progress thus far has expanded annotated reference genes for protein-coding and non-coding (nc) regulatory transcripts, yet much of the variation from splicing events or retention of other regions remain an open challenge, especially in children. This dissertation explores the current state of diagnostic and methodological barriers in front of the full unlocking of the transcriptome, …

Weight Maintenance, A Prognostic Factor That Mediates The Incidence Of Dementia: From Genetics To Etiologies, Sunny Chen

All Dissertations

Objectives: Alzheimer’s disease-related dementia is a devastating neurodegenerative disease that affects millions of people. The goal of this work is to investigate biological mechanisms such as weight loss and mitochondrial function that can serve as prognostic factors for dementia, healthy aging, and longevity.

Methodologies: This work consists of two separate systematic literature reviews, and an investigational study. The first review examined existing studies on weight trends in dementia. The second review investigated the role of mitochondria and its associated gene TOMM40 in aging. The third paper included a nested case control analysis of weight change patterns before and …

Genetics And Genomics Education Among Physician Assistants, Wesley Patterson

All Dissertations

This dissertation comprises five chapters to describe genetics and genomics education among physician assistant/associate (PA) students and practicing PAs. Chapter I introduces the gap in supply and demand of genetic services, the need for non-genetics healthcare providers to fill the gap, and the PA profession as a solution.

Chapter II is a rapid literature review that summarizes the available literature regarding genetics and genomics education for PAs. A paucity of literature exists to describe the current state of PA genetics-genomics education. The few studies retrieved describe content being taught in PA programs, the number of genetics-genomics contact hours PA students …