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QBM

Predicting how disease evolves β€” not just who gets it

βœ“ Funded (Competition) translational research disease progression genetic epidemiology longitudinal analysis oncology ophthalmology polygenic risk scores statistical genetics

Develop progression-specific genetic risk scores to predict disease worsening in eye conditions and cancer. Join innovative research that bridges genetics and clinical application to transform patient care.

AI-generated overview

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Why This Research Matters

This research shifts genetic risk prediction from disease onset to progression, addressing urgent clinical questions about severity and treatment response. It promises novel tools for personalized medicine in ophthalmology and oncology with broad methodological advances.

Polygenic Risk Scores Genetic Epidemiology Ophthalmology Oncology Longitudinal Analysis Translational Research

Project Description

This project advances genetic risk prediction by focusing on disease progression rather than onset. It will develop and validate progression-specific polygenic risk scores (PRS) trained on longitudinal data for glaucoma, age-related macular degeneration (AMD), and colorectal cancer. The study uses repeated clinical measurements and genetic data to isolate genetic contributions to the rate of disease worsening, enabling personalized treatment and surveillance. What You Will Do Conduct PhD-level research developing statistical genetics methods and applying progression PRS to longitudinal cohorts from ophthalmology and oncology. Train in statistical genetics and longitudinal analysis methods working within a multidisciplinary team alongside epidemiologists, clinicians, and biostatisticians. Collaborate internationally and contribute to translational genomics research informing clinical applications. Expected Outcomes Develop novel PRS models predicting progression rates of glaucoma and AMD, and cancer risk from polyps. Validate PRS utility for clinical decision-making including treatment selection and surveillance interval personalization. Produce insights transferable across diseases and contribute methodological innovations in genetic epidemiology. Why It Matters Accurate prediction of disease progression can transform clinical care by enabling early intervention and tailored treatment strategies. This innovative work meets urgent clinical needs beyond disease risk to addressing severity and progression, with broad translational potential in eye diseases and cancer.

Entry Requirements

Essential: Strong undergraduate or Masters degree in genetics, epidemiology, statistics, bioinformatics, or related quantitative discipline. Enthusiasm for large-scale human genetic and clinical datasets. Desirable: Experience with R or Python; familiarity with GWAS or epidemiology methods; interest in translational genomics.

Eligibility

UK/Home
EU
International

Supervisor Profile

PS
Prof Stuart MacGregor
QIMR Berghofer Medical Research Institute, Medical Research
13000 Citations
55 h-index
Google Scholar Staff Page

Prof Stuart MacGregor leads research in statistical genetics focusing on developing and applying methods to gene mapping studies in ophthalmology and oncology. His work combines genetics, epidemiology, and biostatistics to understand complex traits and diseases, supporting translational applications. He directs a multidisciplinary group at QIMR Berghofer specializing in genetics-based risk prediction.

Key Publications

2015
Genome-wide association study identifies multiple susceptibility loci for cutaneous melanoma
This paper identified several genetic loci influencing melanoma risk, advancing the understanding of melanoma genetics.
2018
Genetic architecture of melanoma susceptibility and progression
Summarized key genetic factors driving melanoma risk and outcomes, guiding future genetic research and clinical applications.
2020
Polygenic risk scores for common cancers: Opportunities and challenges
Discussed the potential utility and limitations of polygenic risk scores for cancer risk stratification.