Retinal dystrophies and optic neuropathies are the thrust areas of research. We utilise next-generation sequencing (NGS) to uncover the genetic factors associated with disease pathogenesis. Our approach offers accurate molecular diagnosis, thereby facilitating access to precise novel therapeutic interventions. Personalised genetic counselling was provided to the affected families. Our endeavour aims to construct a gene registry of the visual system specific to the South Indian ethnicity.
Currently, our lab is focused on characterising the genetic factors underlying rare neural degenerative disorders in the human visual system, such as Leber’s hereditary optic neuropathy and Leber’s congenital amaurosis.
Leber’s Congenital Amaurosis (LCA):
We identify additional LCA candidate genes/loci from existing study subjects negative for known LCA candidate genes through whole genome sequencing and genome wide association studies. This approach will help to develop an ethnic specific gene panel for molecular diagnosis. The biological relevance of the identified candidate genes will be functionally validated through in vitro experiments. The genotype will be correlated with respect to clinical microstructural changes for better clinical diagnosis and patient management.
Leber’s hereditary optic neuropathy (LHON):
We intend to do i) Molecular characterisation of nuclear genes involved in LHON; ii)Development of In-Vitro model to understand the involvement of nuclear genes in LHON pathogenesis; and iii) integration of the mito-nuclear genome data with clinical features for improved molecular diagnostics.
In addition, we aim to identify the role of mitochondrial DNA variants, including somatic variations, responsible for Trabecular Meshwork (TM) damage in HTG and NTG, possibly by causing clustered differential expression of cells within TM.
Ongoing projects
Decoding the unknown genetic etiology to ameliorate the molecular diagnostics of Leber’s Congenital Amaurosis (ICMR-DHR).
Investigating nuclear gene involvement in a mitochondrial disorder: Leber’s Hereditary Optic Neuropathy (SERB).
Mitochondrial Association with Transcriptomic Signatures for Trabecular
Meshwork Damage in Glaucoma: A tissue-specific omics approach (ICMR).
