Graduate Student
Email: kcbusse@clemson.edu
Biosketch
Kristin Bussey
After completing a course of study at Florida State University, graduating with high honors, Kristin obtained a BS in Science focusing on Genetics and Molecular Biology. They also obtained a double minor in Chemistry and Psychology. As an undergraduate Kristin’s research focused on the Chromosomal Abnormalities in highlighted Female Hop, Humulus lupulus, which they assure anyone who asks, was not about helping to make new flavors of beer. A bright young scientist, Kristin has received the Francenia Fisher Award, the Caffrey Award and the Vaughn-Jordan Award, and the first ever travel grant awarded at the Clemson Center for Human Genetics. Their paper New Tools for Hop Cytogenomics: Identification of Tandem Repeat Families from Long-read Sequences of Humulus Lupulus, was also published. Their most recent trip to Cambridge London for the Genomics of Rare Disease Conference earned them an honorable mention for their poster “Drosophila melanogaster as a Model for MED12-Related Disorders” an honorable mention in that year’s poster competition. They are part of multiple different scientific societies including the American Society of Human Genetics and the American College of Medical Genetics.
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 on their house, Thai food, and spending time with their partner, a sassy dog, and a mischievous cat.
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. Equally important, patients with the same mutation can present different combinations of phenotypes and variable severity. This suggests the presence of epistatic modifiers of MED12. By utilizing Drosophila melanogaster as a model system, they work 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. Kristin’s work investigates the presence of epistatic interactions involving MED12 and validating those candidate modifiers of MED12, which may explain the variable penetrance and severity of these disorders. Completion of this project provides biological context for mediator complex in disease but also identifies specific modifiers of MED12 that may even be used to improve diagnostic criteria or be used as a therapeutic target. They also collaborate with the GGC to analyze human MED12 patient RNA seq data to identify a disease gene signature for improved diagnostics.