I am a PhD graduate in the field of medical genetics. My PhD work was focused on clinical and genomic profiling of known skeletal dysplasia and identification of novel conditions with the underlying genetic cause using next generation sequencing. Identification of a genetic cause helps in ending the diagnostic odyssey for affected individuals, which thereby leads to uncover the pathophysiological mechanisms of disease and aids in therapeutic intervention. Elucidating these mechanisms requires a vast skill set. My primary research focus is on understanding the genomic and clinical spectrum of monogenic diseases, especially skeletal dysplasia in Indian population using exome sequencing and other NGS technologies. Additionally, I am also interested in elucidating the molecular mechanisms underlying monogenic diseases by using biological model systems.
- Monogenic diseases
- Skeletal dysplasia
- Variant analysis and interpretation of Exome Sequencing data
- Genome sequencing data analysis
- Early career membership of American Society of Human Genetics
