Postdoctoral Researcher in Statistical Functional Genomics
Genomics and Immunology
The maps of human genetic variants that associate with disease susceptibility allow us to generate and test biological hypotheses. Emerging evidence suggests that causal variants underlying disease susceptibility often function through regulatory effects on the transcription of target genes. However, there are challenges in harnessing of susceptibility loci for drug target identification and therapeutic application, including limitations in (i) exposition of causal variants within susceptibility loci, (ii) understanding of the specific affected genes and pathways that are therapeutically targetable, and (iii) mechanistic insights into their influence on cellular behaviours and clinical outcomes.
My current research is centered on identifying and characterizing regulatory variants modulating extreme innate immune response phenotypes in order to gain insights into the causal alleles driving heterogeneity of pathogenesis in sepsis and other diseases caused by immune dysfunction. The research combines bioinformatics, high-throughput CRISPR screening and multi-omics approaches to study variants in disease relevant cells and human iPSC-derived models.
A transcriptomic approach to understand patient susceptibility to pneumonia after abdominal surgery
Torrance H. et al, (2023)
Epigenomic analysis reveals a dynamic and context-specific macrophage enhancer landscape associated with innate immune activation and tolerance
Zhang P. et al, (2022), Genome Biology, 23
A blood atlas of COVID-19 defines hallmarks of disease severity and specificity
Ahern DJ. et al, (2022), Cell, 185, 916 - 938.e58
Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits
Di Giovannantonio M. et al, (2021), Journal of Medical Genetics, 58, 392 - 399
Germline and Somatic Genetic Variants in the p53 Pathway Interact to Affect Cancer Risk, Progression, and Drug Response
Zhang P. et al, (2021), Cancer Research, 81, 1667 - 1680