Hawley Helmbrecht
Chemical engineering
Hometown: Phoenix, Arizona
Graduation date: Spring 2018
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.
Mentor: Michael Caplan
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