मानव आनुवांशिकी संबंधी व्याधियों का कोशिकीय एवं आण्विक आधार
Our laboratory is focused on studying brain disorders,
hereditary hearing loss, and
developmental disorders. To address questions in these
areas, we employ concepts and technologies from genetics, cell biology,
genomics, and transcriptomics.
These investigations involve the use of cultured mammalian cells,
genetically engineered mice, pluripotent stem cells, and the analysis of
families affected by genetic disorders.
Major themes of our ongoing research include:
Functional characterization of microtubule-associated proteins in human
brain disorders.
DNA-surveillance and RNA-surveillance mechanisms and their malfunction in
brain diseases.
Resolving gene networks underlying cellular stress response in
age-associated pathologies.
Genomic architecture of non-syndromic, severe-to-profound deafness.
Molecular and cell biological studies of newly identified genes involved
in human epileptic disorders and hereditary deafness.
Single cell biology and spatial transcriptomics of neurological and
developmental disorders.
