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Full-Text Articles in Genetic Phenomena

Association Of Body Mass Index Genetic Risk Markers With Body Composition During Adolescence, Brice A. Smoker Apr 2020

Association Of Body Mass Index Genetic Risk Markers With Body Composition During Adolescence, Brice A. Smoker

Senior Theses

Background. Obesity affects nearly a fifth of all children in the United States and is a common risk factor for numerous chronic diseases. Many risk factors contribute to obesity, including race and genetics. Obesity is partially heritable, and many genetic loci have been identified as being associated with body mass index (BMI) in adults. Some of these loci have also been associated with childhood BMI, with effects strengthening with age. A previous genome-wide association study (GWAS) identified five single nucleotide polymorphisms (SNPs) associated with changes in BMI in children aged 1 – 17 years.

Purpose. The purpose of the current …


The Pharmabiotic For Phenylketonuria: Development Of A Novel Therapeutic, Chloé Elizabeth Lebegue Apr 2019

The Pharmabiotic For Phenylketonuria: Development Of A Novel Therapeutic, Chloé Elizabeth Lebegue

Senior Theses

Phenylketonuria, now known as phenylalanine hydroxylase (PAH) deficiency, is a genetic disorder of metabolism affecting approximately one in every 15,000 infants born in the United States. Patients have nonfunctional PAH enzyme secondary to one or more genetic mutations. The enzyme deficit results in destructive supraphysiologic blood phenylalanine levels upon consumption of the essential dietary amino acid phenylalanine. Current standards of care mitigate signs and symptoms of the disorder, but do not approach a cure. The methods for creating a prototype pharmabiotic as an innovative treatment strategy for PAH deficiency are described herein.

DNA molecular cloning techniques were utilized to engineer …