Entry for:2018 Queensland Women in STEM Prize
1. Please provide a short summary of your research, project or technology.
Melanoma is the cancer of the pigmented cells in our body and Queensland has the highest number of people diagnosed with melanoma in the entire world. Although the main risk factor for developing melanoma is ultra violet light from the sun, a person's genetics significantly increases the risk of developing melanoma. Approximately 5-12% of melanoma patients report a first or second degree relative with melanoma. This small population are highly susceptible to melanoma due to the inheritance of certain mutations in their DNA. The genetic reasons underlying melanoma predisposition in ~50% of these families is not known. My project aims to "solve" these families by identifying the basis of their predisposition which will involve the identification of new genes and mutations that are involved in melanoma susceptibility, enhancing our overall understanding of the disease.
2. Additional Details
DNA is the instructional template, or genetic blueprint, of all life. Sun damage from UV radiation causes irreversible damage to our DNA, which over time, can cause the cells in our body to grow uncontrollably. In some rare cases, a specific mutation in DNA is inherited, meaning that they were born with this mutation, Some such mutations occur in important regions of DNA and their inheritance increases susceptibility to and risk of these individuals and their families to developing melanoma. Currently, approximately 50% of familial melanoma mutations are known, yet the other half remains unidentified. For these families, the underlying cause of their susceptibility is still a mystery. New methods in the last decade have meant that we can obtain the entire DNA sequence of an individual. This is called our genome. The research that my group and I conduct involve genome sequencing members in a family with melanoma, and determining if they each have mutations which may dramatically alter the function of their cells. that are not present in unaffected members. This is a complex task as a large amount of DNA variation is shared within families. We need to identify the mutations that are different in these high-risk populations, but also do important cellular experiments in the laboratory to understand just what these mutations do to cause melanoma development. This allows us to not only inform patients of their risk of developing melanoma but also helps us understand critical steps in melanoma development, information crucial to the advancement of treatments.