Profile
Dr. Moulinath Acharya completed his PhD from CSIR-Indian Institute of Chemical Biology (CSIR-IICB) on molecular genetic analyses of the ocular neurodegenerative disease, open angle glaucoma and moved to the Department of Medical Genetics in the University of Alberta, Canada to work on transcription factor regulatory network of eye anterior segment development and developmental glaucoma. Dr. Acharya initiated his independent research at the BRIC- National Institute of Biomedical Genomics (BRIC-NIBMG) on understanding the complex relationship between disease genes and phenotypes in genetic eye diseases. Currently, his primary research areas include a) complex traits associated with glaucomatous neurodegeneration and b) genetic heterogeneity in rare diseases with neuronal defects. Dr. Acharya reported novel genomic associations obtained from GWAS in primary angle closure glaucoma and related quantitative traits in Indian population. His group along with NIMHANS, India and IMCB, Singapore conducted the first comprehensive whole exome analyses on Indian congenital muscular dystrophy and congenital myopathy patients. They have also identified a risk haplotype in the background of a founder mutation in sarcoglycanopathy. At present his lab is focusing on functionalization of GWAS variants in glaucoma along with delineating heterogeneity in developmental glaucoma and primary degenerative muscle disorders using zebrafish and cell culture models.
Current Focus Areas
Role of CNTNAP5 gene in glaucomatous neurodegeneration, obtained from an extreme-phenotype GWAS in primary angle closure glaucoma
Involvement of PTPRM gene in lens development, obtained from quantitative trait GWAS on lens thickness related to angle closure glaucoma
Investigating the role of WT1 transcription factor in the pathogenesis of developmental glaucoma spectrum disorders
Mechanistic underpinnings of causal mutations in the intermediate filament desmin and nuclear envelop transmembrane proteins lamin and emerin pertaining to muscular dystrophy and myopathy
Selected Publications
6. Sanga S, Chakraborty S, Bardhan M, Polavarapu K, Kumar PV, Bhattacharyya C, Nashi S, Vengalil S, Thenral SG, Ramprasad VL, Nalini A, Basu A, ACHARYA M* (2023) 2. Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy. Scientific Reports 13, 15095.
5. Chakraborty S., Sharma A., Pal S, Sharma A, Sihota R, Bhattacharjee S., ACHARYA M*. (2023) A quantitative trait GWAS on lens thickness identifies novel risk loci on PTPRM in the narrow angle individuals susceptible to PACG. European Journal of Ophthalmology Mar 17:11206721231160988
4. Chakraborty S, Sharma A, Sharma Ar, Sihota R, Bhattacharjee S, ACHARYA M* (2021) A Haplotype-based genomic analysis reveals novel association of CNTNAP5 genic region with primary angle closure glaucoma. Journal of Biosciences. February 2021 46:15
3. Sanga S, Ghosh A, Kumar K, Polavarapu K, Kumar PV, Vengalil S, Nashi S, Bardhan M, Arunachal G, Raju S, Gayathri N, Biswas NK, Chakrabarti S, Nalini A, Roy S, ACHARYA M* (2020) 11. Whole Exome Analysis of Congenital Muscular Dystrophy and Congenital Myopathy Patients from India Reveal a Wide Spectrum of Known and Novel Mutations. European Journal of Neurology, October 2020:00:1-12
2. Pandey P, ACHARYA M* (2016) Disease-Phenotype Deconvolution in Genetic Eye Diseases Using Online Mendelian Inheritance in Man. Investigative Ophthalmology & Visual Science May 1; 57(6):2567-76.
1. ACHARYA M*, Huang L, Fleisch VF, Allison WT, Walter MA (2011) A complex regulatory network of transcription factors critical for ocular development and disease. Human Molecular Genetics Apr 15; 20(8):1610-24