Hariklia Eleftherohorinou

 

I am a postdoctoral Reseach Associate at the Centre of Epidemiology and Biostatistics and also affiliated with the Department of Paediatrics and the Wellcome Centre of Clinical Tropical Medicine.

I was awarded the PhD studentship from the Division of Medicine, IC, to undertake with my supervisors Prof. Michael Levin and Dr. Lachlan Coin a cross-disciplinary project focused on the emerging problem of how to maximise the extraction of genetic information in genome-wide association studies (GWAS) and then link it to known clinical knowledge, using bioinformatics and statistical tools.

During my PhD I have mostly focused on developing novel GWAS analysis methodologies that use as starting point of analysis the cumulative genetic variation along a gene or a pathway, rather than a single SNP alone. I have shown that biological pathway-driven analysis of GWAS can identify gene-disease associations of modest effect that are usually missed by conventional analysis strategies, can assist disease diagnosis and can provide insights into disease mechanisms.

At the moment, I am working on developing novel methodologies to identify genetic factors that define the susceptibility of various childhood infectious diseases with focus on TB and meningococcal disease. I am working on the integration of genetic and gene expression information. Together with our collaborators at the Department of Paediatrics in University of San Diego, California, US, I am part of an international effort trying to identify the genetic basis of aneurysm formation in children with Kawasaki Disease.

I am a member of the International Kawasaki Disease Genetics Consortium (IKDGC) and the International Meningococcal Disease Genetics Consortium (IMDGC).

 

Research Interests: Pathway-based analysis of GWAS, biomarker identification, novel diagnostic methods for infectious diseases, gene expression disease signatures