Graduate Student
Email: kcbusse@clemson.edu
Biosketch
Kristin Bussey
After completing a course of study at Florida State University, where she graduated with high honors, Kristin obtained a BS in Science focusing on Genetics and Molecular Biology. She also obtained a double minor in Chemistry and Psychology. As an undergraduate her research focused on the Chromosomal Abnormalities in highlighted Female Hop, Humulus lupulus, which she assures anyone who asks, was not about helping to make new flavors of beer. A bright young scientist, Ms. Bussey has received the Francenia Fisher Award, the Caffrey Award and the Vaughn-Jordan Award. Her paper New Tools for Hop Cytogenomics: Identification of Tandem Repeat Families from Long-read Sequences of Humulus Lupulus, was also published and she placed second in the Tri-Beta poster competition.
Fall 2019 saw Kristin joining Clemson University and the Clemson Center for Human Genetics as a graduate research assistant under the direction of Dr. Trudy Mackay and Dr. Robert Anholt. Aside from research Kristin is slightly addicted to DIY projects, Thai food, and spending time with her fur babies.
Research
Kristin’s current research focuses on rare genetic disorders arising from mutations of the MED12 gene. This is a case of one gene, many phenotypes. While there exists a common subset of phenotypes such as Intellectual Disability (ID), hypotonia, developmental delay, and craniofacial abnormalities, there are just as many patients presenting a combination of phenotypes quite unique from other MED12 patients.
An increasing number of mutations in MED12 are considered Variants of Unknown Significance (VUS) and clinicians are unsure how these variants contribute to a patient’s disease risk factor. Without understanding if the VUS are benign, or highly likely to contribute to the manifestation of a disease/disorder, clinicians struggle to prescribe the best diagnosis and treatment plan. By utilizing Drosophila melanogaster as a model system, she works alongside clinicians at the Greenwood Genetic Center (GGC) to better understand the mechanisms of MED12 and how it operates in a number of important developmental systems. She is working to characterize and classify some of these unknown variants. In addition to using behavioral analysis and molecular biology, Ms. Bussey is working on mapping variants specific to patients seen at the GGC across different species. This is being done to determine conservation in order to produce an improved workable model for future testing.