GENETICS

Our research focuses on identifying and characterizing the genes that are involved in various ocular disorders in Indian population. Screening Single Nucleotide Polymorphisms that could be potential risk factors for the disease condition and understanding the mutation spectrum of the genes will provide an insight into molecular diagnosis. Phenotype-Genotype correlation and gene expression studies are performed extensively to understand the mechanism of the pathogenesis. Thus the field of Molecular Genetics is evolving to encompass techniques that are directly relevant to the research and diagnosis of various eye diseases.

Research Areas

  • Molecular Genetics of Albinism in the Indian Population
  • A genetic component to the INDEYE study of cataract and age-related macular degeneration in India
  • Molecular genetics of Leber Congenital Amaurosis in South Indian population
  • Mitochondrial genes involvement in Leber's Hereditary Optic Neuropathy (LHON)
  • Molecular genetic analysis of candidate genes associated with paediatric eye diseases exclusively anophthalmia and microphthalmia in India
  • Genetic screening in a large family with primary open angle glaucoma
  • Transcriptome and Proteome Analysis of ALR2 gene and its involvement in the pathogenesis of Diabetic Retinopathy
  • Establishing the genetic testing centre for retinoblastoma
  • Genetic and transcript analysis of RB1 gene in retinoblastoma patients

Ongoing Projects

  • Mitoscriptome analysis to understand the pathogenesis of Diabetic Retinopathy using tissue microarray
  • Mitochondrial Genes Involvement in Lebers Hereditary Optic Neuropathy (LHON)
  • Establishing the genetic testing centre for retinoblastoma
  • Genetic and transcript analysis of RB1 gene in retinoblastoma patients

Completed projects

  • Molecular genetic analysis of candidate genes associated with paediatric eye diseases: exclusively anophthalmia and microphthalmia in India. 2011-2013, Funded by ICMR
  • Molecular Genetics of Leber Congenital Amaurosis in south Indian population. 2010-2013 Funded by ICMR
  • Molecular Genetics of Albinism in Indian population. 2010-2011, DST-DAAD ( Indo-German)
  • Identification of Biomarkers for POAG, 2009-2012 Funded by DBT
  • Transcriptome and proteome analyses of ALR2 and its involvement in the pathogenesis of Diabetic Retinopathy. 2009-2012, Funded by DBT.
  • Molecular Genetics of Diabetic Retinopathy. 2008-2010,Funded by TIFAC-CORE
  • Molecular genetics on keratoconous. 2008-2010, Funded by AMRF-Alcon Project
  • Screening of LOXL1 gene mutations in glaucoma patients. 2008-2010, Funded by AMRF-Alcon
  • Genetic and functional dissection of FOXL2 gene involved in the pathogenesis of the Blepharophimosis Syndromne (BPES). 2008-2010, Funded by ICMR-INSERM.
  • A Genetic component to the INDEYE study of cataract and age-related macular degeneration in India. 2008-2010, Funded by Wellcome trust
  • Determination of Genetic makeup of Rubella virus infecting Children in South India. 2007-2008, Funded by ICMR
  • Genetic and Functional insights of Fuchs Endothelial Corneal Dystrophy and Congenital Hereditary Endothelial Dystrophy in Indian patients. 2007-2010, Funded by DST.
  • Identification of genetic defects occurring in Indian Oculocutaneous (OCA) and Ocular Albinism (OA) families. 2006-2009, Funded by DBT
  • Understanding Protein Aggregation in relation to Primary Open Angle Glaucoma: Evaluating models, Screening Polymorphisms and database development (CO-PI). 2005-2008, Funded by DBT
  • Involvement of transcription factor gene PAX6 in various congenital Ocular anomalies in Indian Population. 2006-2008, Funded by ICMR
  • Genetic and Structural Analysis of Myocilin Protein involved in Juvenile Onset Primary Open Angle Glaucoma. 2003-2006 Funded by ICMR
  • Studies on the Genetics of Inherited Aniridia in Indian Population (PI). 2002-2006 Funded by ICMR
  • Molecular Genetics and Diagnosis of inherited Diseases of The eye: Development of a Gene- based Macrochip. 2003-2006 Funded by NMITLI-CSIR.

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