Kyleigh Buckley headshot
I benefit from research because I am able to conduct a lot of this research largely on my own. It takes a lot of troubleshooting but it is very satisfying to get actual results at the end. I learned a lot about data collection and some simple coding to create the summary graphs and charts for my results. My favorite part has been developing relationships with my PI and other members of my lab. I always really enjoy presenting my research, such as at UURAF.

Genomics & Molecular Genetics

Research Topic: Rare Damaging Missense Mutations in IRF6 Found in Sequence Control Populations Graduation Year: 2019

Buckley researched mutations in a gene called IRF6. Mutations in IRF6 can cause cleft lip and palate, specifically in a form called Van der Woude Syndrome (VWS). She looked at variants and compared them to a list of control mutations, using different predictive algorithms to see what the effect of each particular variant would be. She assembled a list of mutations in VWS patients by conducting a literature search, the database gnomAD to get a list of mutations, and a BLAST search to find mutations in IRF6 in animals. She then used a variety of different predictive algorithms that predict whether a mutation will be benign or deleterious and assign a score. Her research is important because it can help doctors understand the cause of cleft lip and palate. This could lead to better treatment and solutions, resulting in more positive outcomes.