Postdoctoral Research Scientist in Statistical Functional Genomics
Functional Genomics of Ankylosing Spondylitis
The majority of regulatory variants identified by Genome-Wide Association Studies (GWAS) occur in non-coding regions of the genome, often at considerable distances from the nearest gene.
A recent GWAS study on Ankylosing Spondylitis (AS), a severe arthropathy involving the spine and sacroiliac joints, identifies, for example, the association with the Major Histocompatibility Complex (MHC) and HLA-B27, as well as several, non-MHC loci, many of which are in intergenic regions.
Methods for assaying chromatin conformation have been recently proposed to identify regulatory regions and enumerate pair-wise interactions that regulatory regions establish to control gene expression, often from distances of the order of tens to thousands of kilobase pairs.
I apply such methods to link specific genes to disease associated variants that have been previously identified by GWAS studies. In particular, I devise bioinformatics protocols to process data obtained by high-throughput sequencing methods used in our Lab, such as ATAC-seq, and Capture-C.
These methods quantitatively identify regulatory regions and assess physical proximity profiles across the genome, effectively imaging the features of DNA folding at kilobase resolution and possibly unveiling the mechanisms involved in the disease pathogenesis of AS and beyond.
I have a PhD in Physics gained at the MIT, Boston, USA. During the last years of my PhD I studied polymer physics, a key component to understand the main ideas behind Chromosome Conformation methods.
During my postdoctoral experience, part of which was at the Max Planck Institute for Polymer Research, I was introduced to the ideas and methods behind chromatin folding, getting acquainted with computational methods and techniques I currently employ in my research.
I recently joined the Julian Knight group at Wellcome Trust Centre for Human Genetics after working for the last five years at the Institute of Cancer Research, University of London.