Hawley Helmbrecht

Chemical engineering

Hometown: Phoenix, Arizona

Graduation date: Spring 2018

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FURI | Spring 2018

Diagnostic Methods for Detecting Microvillus Inclusion Disease

Microvillus Inclusion disease is a life-threatening disease caused by a single nucleotide polymorphism (SNP) that affects people of Navajo descent. This research sought to design a diagnostic method with future application as a screening tool. Three diagnostic methods were explored: amplification refractory mutation system (ARMS), restriction fragmentation length polymorphism (RFLP), and a tentacle probe. ARMS and RFLP were simple to design, but not specific enough. The tentacle probe was the most promising method due to its sensitivity and specificity. Future work will optimize the tentacle probe for detection of the SNP in synthetic DNA before moving on to patient samples.


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