My research is focused on genomics and computing, with emphasis on variant and copy number analysis, gene expression, microbiome and proteomics studies. I am also interested in Big data analytics in medicine and healthcare with real-time data processing, messaging and streaming techniques.
Ongoing projects in this area include disease modeling using Induced pluripotent stem cells (iPSCs) of Lesch-Nyhan disease and DYT1 dystonia.
Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt).
Dystonia is a movement disorder i.e characterized by involuntary movements & postures. Dystonia may be inherited, acquired, or idiopathic (no known cause). DYT1-dystonia is caused by autosomal dominant mutations in the TOR1A gene, most frequently a heterozygous in-frame deletion in exon 5.