Defective DNA repair is a major driver of genetic instability and cancer development. This PhD project, based in Professor Stewart’s laboratory, will investigate how cells detect and repair DNA damage, and how defects in these processes give rise to human disease. By studying rare inherited disorders, the project aims to generate fundamental insights into the DNA damage response and its role in conditions such as neurodegeneration, developmental abnormalities, immune dysfunction, infertility, and cancer.

Research Focus:

The Stewart laboratory has extensive expertise in the molecular characterisation of rare genetic disorders associated with defective DNA repair and abnormal DNA replication, including Ataxia-Telangiectasia, Fanconi Anaemia, Seckel Syndrome, and Microcephalic Primordial Dwarfism. Building on this work, the project will focus on newly identified inherited syndromes linked to genome instability, arising from defects in DNA replication, replication stress responses, or specific DNA repair pathways.

Using patient-derived cell models and state-of-the-art molecular and cellular biology techniques, you will define how specific gene variants disrupt genome maintenance and drive disease. This will involve a combination of genetic, biochemical, and cell biology approaches, offering comprehensive training in cutting-edge research methods.

Training and Impact:

This project provides an excellent opportunity to gain expertise in genome stability, human genetics, and disease mechanisms within a collaborative and translational research environment. Findings from this work will not only contribute to improved genetic diagnosis, clinical management, and counselling for patients, but may also identify novel cellular pathways and targets relevant to more common diseases, including cancer.