Our lab is carrying out both genomic and transcriptomic studies to identify candidate genes for several inherited genetic disorders and cancers. This includes whole genome sequencing, microarray based comparative genomic hybridization and gene expression profiling using DNA microarrays.
X-linked mental retardation
To identify candidate genes for inherited genetic disorders like X-linked mental retardation, we are carrying out complete genome sequencing in affected families using next generation sequencing methods. This enables direct study of inheritance patterns and allows identification of candidate genes with relative ease. Microarray based comparative genomic hybridization is also being carried out in order to determine copy number variations that could explain these genetic disorders.
Esophageal squamous cell carcinoma
In case of cancers, we are carrying out genomewide mRNA expression profiling studies to determine differentially regulated genes. mRNA expression profiling in twenty cases of esophageal squamous cell carcinoma led us to identify several genes that are differentially regulated in tumors as compared to the adjacent normal epithelium from the same individuals (Kashyap et al.). This approach led us to identify a number of promising novel candidates that have the potential to serve as biomarkers of esophageal squamous cell carcinoma (ESCC).