The University of Otago Department of Pathology recently organised a symposium for Master’s and Honours students as part of their year-long Research Seminar Series. Lab Supply sponsored the prizes for the top three presenters.
Eight students presented on their research, with Haley Gibson, Kam Salt and Lauren Over winning first, second and third place respectively.
We reached out to the winners to ask them more about their research and the impact they see it having.
Hayley Gibson - Determining the Mechanism of Disease in Frontometaphyseal Dysplasia - Tales from Mice
Haley’s research investigates the rare genetic disease Frontometaphyseal Dysplasia (FMD), which affects the musculoskeletal, cardiovascular, respiratory, and urogenital systems. Three genes are implicated in this disease: FLNA, MAP3K7, and TAB2, however the connection between them is unknown. Her research is trying to understand how these different genes cause FMD, using molecular technologies and studying a mouse model of the disease.
Little is known about the underlying pathology of many rare genetic diseases, including FMD, says Haley. By trying to understand how FMD causes its multisystemic effects, we are attempting to not only learn more about this disease, but its biological pathways.
“This will help provide answers to patients and their families who want to know more about their own biology, as well as provide insight into how disease develops when these biological pathways go awry.”
Kam Salt - Discovering the genetic aetiology of a rare gastrointestinal disorder affecting a New Zealand family
Kam’s research delves into the genetic causes of a rare gastrointestinal disorder affecting a New Zealand family. Each member of the family has undergone whole-genome sequencing, and Kam is designing bioinformatic pipelines that model the potential genetic trends and inheritance of the disease. The goal of this pipeline is to curate variants within their genome that could explain a pathogenic origin for this disease.
“I believe the significance of this project is not best measured by how it affects society, but by how it could potentially give a diagnosis and greater understanding to the family burdened by the disease, said Kam.
The diagnostic odyssey, the tiresome and draining process of receiving an accurate diagnosis, can be ended through the classification of a pathogenic variant.”
Lauren Over - DNA replication licensing genes as targets for breast cancer treatment
Lauren’s research is focused on the mutations that cause a rare disorder called Meier Gorlin syndrome (MGORS), where affected individuals are small in overall body size. The mutations affect genes involved in DNA replication and cause a reduction in cell growth. There is evidence of the same genes being overexpressed in breast cancer where we see an increase in cell growth.
Says Lauren, “Our goal is to provide evidence that incorporating the MGORS mutated genes into breast cancer cells will reduce cell growth like what we see in those affected with MGORS, thus reducing cancer growth!”
Individuals with MGORS are intellectually typical and live normal full lives despite being smaller in size.
“If we can provide evidence that incorporating these MGORS mutations in breast cancer cells reduces cell proliferation and cancer growth, then we could be looking at a new effective treatment for breast cancer that, unlike most current treatments, allows patients to undergo treatment while still living their normal day to day lives. In my opinion, this is just so exciting!”
Congratulations Hayley, Kam, and Lauren! We look forward to hearing more about your research as it progresses.
Image caption: From left to right - Hayley Gibson, Kam Salt and Lauren Over.