Sydney Christine Connor
Hometown: Lake Stevens, WA, United States
Graduation date: Spring 2019
FURI | Spring 2019
Development and Assessment of a Diagnostic Tool to Detect and Genotype Navajo NeurohepatopathyNavajo Neurohepatopathy (NNH) is a fatal genetic disease that impacts 1 in every 1,600 Navajo children below the age of ten. This disease is caused by a single nucleotide polymorphism (SNP) within the MPV17 gene. Current standard of care requires sequencing of the entire MPV17 gene, which costs $700 per patient and takes three weeks to yield a diagnosis of NNH. The objective of this research is to design a cost and time efficient diagnostic tool to detect and genotype this NNH SNP. A quantitative, real-time polymerase chain reaction (qPCR) assay was designed and optimized for this purpose.
Mentor: David Brafman