Cellular and molecular basis of human genetic disorders
Our laboratory is interested in the areas of brain disorders, hereditary
hearing loss, and developmental disorders. To address questions in these
areas, we use concepts and technologies of genetics, cell biology, genomics,
and transcriptomics. These studies are carried out employing cultured
mammalian cells, genetically engineered mice, pluripotent stem cells, and
analysis of families affected with genetic disorders. Major themes of the
research being presently carried out are:
Functional characterization of microtubule-associated proteins in human
brain disorders.
DNA-surveillance and RNA-surveillance mechanisms and their malfunctioning
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 underlying
human epileptic disorders and hereditary deafness.
Single cell biology and spatial-transcriptomics of neurological and
developmental disorders.
