About
Dr. Santiago Diaz-Torres is a postdoctoral researcher at QIMR Berghofer, dedicated to advancing translational research and uncovering clinically meaningful insights into the molecular mechanisms underlying complex disorders. With a multidisciplinary background in biology, biostatistics, and statistical genetics, he applies genetic and multi-omics approaches to investigate the pathobiology of neurodegenerative diseases. His research encompasses glaucoma, Parkinson’s disease, and Alzheimer’s disease, among other conditions, with a particular interest in the interplay between systemic health and neurodegeneration.
During his PhD, Dr. Diaz-Torres investigated the genetic determinants of optic neuropathy and retinal structure, elucidating their associations with brain morphology and neurodegenerative conditions. His current work aims to refine early detection and risk stratification strategies for neurodegenerative diseases by integrating phenotypic, omics, and genetic data. Committed to translational impact, he actively fosters international collaborations to address health disparities in underrepresented populations.
Research Skills
- Biostatistics
- Bioinformatics
- Computational biology
- Statistical genetics
- Neurogenomics
Area of Interest
- Functional and translational genomics.
- Genetic and molecular mechanisms underlying systemic and neurodegenerative conditions.
- Genomic research in underrepresented populations.
Awards & Honours
Publication of the Year Award for the Population Health Program 2024, QIMR Berghofer: “Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma
On Prime - CSIRO Translational Research Program funding, 2023.
People's Choice Award, QIMR Students' Conference 2022: “Association of polygenic scores for glaucoma and its related phenotypes with retinal ganglion cell integrity measures in young and older adults.”
QIMR Berghofer Medical Research Institute, Statistical Genetics PhD Scholarship - Research scholarship awarded for my PhD.
QUT Postgraduate Research Award (QUTPRA) (International) - Research scholarship awarded in recognition of exceptional research potential.
Publications
Diaz-Torres, S., He, W., Yu, R. et al. Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma. Nature Communications 15, 9959 (2024). doi:0.1038/s41467-024-54301-2
Diaz-Torres, S. et al. Disentangling the genetic overlap and causal relationships between primary open-angle glaucoma, brain morphology and four major neurodegenerative disorders. EBioMedicine 92, 104615 (2023). doi:10.1016/j.ebiom.2023.104615
Diaz-Torres S, Lee SSY., García-Marín LM, Campos AI, Lingham G, Ong JS, Mackey D, Burdon K, Hunter M, MacGregor S, Dong X, Gharahkhani P, & Renteria ME (2024). Uncovering novel genetic loci and biological pathways associated with age-related cataracts through GWAS meta-analysis, Nature Communications 15, 9116 (2024). https://doi.org/10.1038/s41467-024-53212-6