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| | Over the years, the spectrum of research activities at Aravind Medical Research Foundation diversified from epidemiology, clinical research and clinical genetics to basic research and translational research. The importance of basic research on Genetics, Immunology, Microbiology, Cell Biology, Biochemistry and Molecular Biology of eye diseases with special reference to Indian context is well recognized and several research programmes are underway with the support of various funding agencies in India and with international collaboration. Aravind is currently in the process of establishing a new major centre for research – Dr. G. Venkataswamy Eye Research Institute to strengthen and integrate our various research activities. We have also initiated major programmes on Proteomics of plasma, vitreous and tear related to eye diseases. In addition to screening for mutations, the major activities would involve Functional Genomics, Copy number variation, Single Nucleotide polymorphism, especially in age related eye diseases.
ON GOING PROJECTS
| • Pathogenic Mechanism of Uveitis Associated with Past Leptospiral Infection • “Two-Parameter Analysis” A Precise Corneal Epithelial Stem Cell Marker • Evaluation of Label Retaining Property of Cultured Limbal Epithelial Cells in Relation to Two-Parameter Analysis • In vitro and in vivo study on the secretion of Gly367Arg mutant Myocilin protein • Molecular Study on Congenital Rubella Syndrome in south Indian population • Identification of Candidate Genes and Screening for Polymorphisms of Genes Associated with TYPE II Diabetic Retinopathy • Studies on the proangiogenic and vascular growth factors in relation to the pathogenesis of Eales’ disease and Diabetic Retinopathy • Molecular Genetic Analysis of Autosomal Recessive Congenital Hereditary Endothelial Dystrophy • Genetic and Functional analysis of FOXL2 gene in Indian Patients with BPES syndrome • Development of Data mining techniques using variety of data structures on eye diseases in Indian population and software development in relation to medical diagnostics for image analysis
NEW PROJECTS
| • Pathogen host interaction in human mycotic keratitis • Identification of Genetic Defects Occurring in Indian Oculocutaneous (OCA) and Ocular Albinism (OA) Families • Will Cytoskeletal Drugs Prevent Posterior Capsule Opacification? • Corneal Surface Reconstruction using Bio-Engineered Autologous (BUCCAL) Mucosal Epithelium • Application of multiplex PCR in the diagnosis of infectious retinitis
Major Events The first meeting of the Joint Working Group of Indo-US Collaboration on Expansion of Vision Research
| Organized by the Department of Biotechnology, Government of India, New Delhi, on 28 & 29 September , 2006. The main objective of the meeting was to discuss and plan for establishing collaboration on expansion of vision research between India and United States of America. Dr.P.Namperumalsamy spoke on the role of Aravind Eye Hospital and giving on overview of Vision Research and Diabetic Retinopathy clinical research network. Dr.VR.Muthukkaruppan presented the various ongoing research projects as well as the potential of patient materials available for basic research. He also mentioned about the project “Will Cytoskeletal drugs prevent Posterior Capsule Opacification?” which was already approved by National Institute of Health. The New Indo-US Collaborative projects will be considered for funding by National Institute of Health and by Department of Biotechnology simultaneously.
President Dr. Abdul Kalam lays Foundation for Dr. G. Venkataswamy Eye Research Institute
| Aravind-Madurai, January 5, 2007
 Dr. A.P.J. Abdul Kalam, the President of India with Dr.P.Namperumalsamy, Dr.VR.Muthukaruppan, Dr.Sundaresan and other guests at the ‘Meeting with the Scientists’ session following the Foundation Stone Laying Ceremony On January 5, 2007 His Excellency Dr. A.P.J. Abdul Kalam, President of India laid the foundation stone for Dr. G. Venkataswamy Eye Research Institute. The function was held at an improvised auditorium, elegantly erected at the site of the planned building of the Eye Research Institute, near LAICO. After the foundation stone laying ceremony, The President met all senior staff of AMRF and other visiting scientists privately and discussed ways research can help tackle the problem of blindness.
Major Conferences Attended Elsewhere “Human Genetics and Public Health” and XXXI Annual Conference of Indian Society of Human Genetics
| New Delhi, Feb27-Mar 01,2006 Poster presentations · J. Kanagavalli- Novel Homozygous mutation in MYOC associated with Indian POAG patient · B. Hemadevi - CYP1B1 Gene variations in primary Congenital Glaucoma (PCG) and primary Open Angle Glaucoma · J. Nallathambi- FOXL2 mutations in Indian families with Blepharophimosis- ptosis – Epicanthus Inversus Syndrome
Indo-Swedish Symposium on Genomics and Proteomics of Diabetes
| Chennai, April 1-2, 2006 · P.Sundaresan, G.Sajithlal, G.Sangiliyandi, P.Murugeswari, B.Suganthalakshmi participated Poster presentation B.SUGANTHALAKSHMI - Role of VEGF, eNos and ALR gene polymorphisms in diabetic retinopathy
Indian Eye Research group (IERG) Meeting, L V Prasad Eye Institute
| Hyderabad, July 20-30, 2006 DR.VR.MUTHUKKARUPPAN - Identification, Enrichment and characterization of Human Corneal Epithelial Stem Cells GOWRI PRIYA CHIDAMBARANATHAN, - Leptospiral Uveitis is endotoxin mediated AMALA RAJASUNDARI - Molecular Study on Congenital Rubella Syndrome in South Indian Population J.KANAGAVALLI - Normal and Mutant Myocilin Gene Expression in Cultured Trabecular Meshwork Cells P.MURUGESWARI & B.SUGANTHALAKSHMI - Correlation between Genetic Polymorphisms and Vitreous Levels of VEGF in Proliferative Diabetic Retinopathy B. HEMADEVI - Molecular Genetic Analysis Of Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
The Sixth International Symposium of Ophthalmology and the Seventh Asia Pacific Society of Eye Genetics Symposium (APSEG)
| Hong Kong, 13-15 August 2006
 Dr. P.Sundaresan at the 6th International Symposium of Ophthalmology and the 7th APSEG Meet DR.P.SUNDARESAN - Molecular genetics on hereditary Glaucoma and in vitro expression of mutant myocilin gene in trabecular meshwork cells
Meeting on Research in Vision and Ophthalmology (ASIA ARVO-2007)
| Singapore, March 2-5, 2007 DR.VR.MUTHUKKARUPPAN - Identification, Characterization, Enrichment and Ex Vivo Expansion of Human Corneal Epithelial Stem Cells DR. R. KIM - Asia-ARVO meeting on Research in Vision and Ophthalmology - Intravitreal Triamcinolone in DME”. - Allergan POSURDEX Investigators meeting DR.P.SUNDARESAN - Variations in the MYOC Gene in Indian Patients with POAG and in vitro and in vivo Study on the secretion of Gly367Arg Mutant Myocilin protein DR.LALITHA PRAJNA - Diversity of Pseudomonas aeruginosa in Corneal Ulcers from South India MS. GOWRIPRIYA - Aetiopathogenesis of Uveitis associated with Leptospirosis in Humans MS. S.ANANTHI - Tear proteome Analysis in Fungal Keratitis MS. B.HEMADEVI - Molecular Genetic Analysis of Corneal Endothelial Dystrophies: FECD and CHED2 in Indian patients MS.P.MURUGESWARI - Studies on pro-inflammatory cytokines, Angiogenic and Anti-angiogenic factors in Vitreous of patients with Proliferative Diabetic Retinopathy and Eales’ Disease
Internal Capacity Building: Training
|  Ms. Amala with IDU staff HPA, London, UK - Ms. T. Amala Rajasundari, Ph.D Research scholar at AMRF underwent training at Health Protection Agency in London under the supervision of Dr. Li Jin, Molecular Virologist from March 8 to June 1, 2006. The aim of this training was to carry out the molecular testing in the Congenital Rubella Syndrome (CRS) samples collected at Aravind Eye Hospital and to get practical training in rubella virus culture and molecular assays.
|  Mr.J.Nallathambi with Prof. Reiner A Veitia - Mr.J.Nallathambi, Junior Research Fellow, Department of Genetics, AMRF underwent research training from September 6 to December 29, 2006 in Cochin, Paris, under the guidance of Prof. Reiner A Veitia under the sandwich Ph.D scholarship by French Embassy India, to carry out part of his Ph.D Programme in Paris.
| - Ms.Ramya Devi Ramachandran, Junior Research Fellow, Department of Molecular Biology, AMRF was awarded the pre-doctoral visiting fellowship to work at the National Eye Institute, NIH, Maryland, USA from January 2006 to February 2007. There she worked on ‘Understanding the genetic basis of hereditary cataract in Indian families’ under the guidance of Dr. J Fielding Hejtmancik, Senior investigator, Ophthalmic Genetics & Visual Function Branch. Here she received training to carry out positional cloning of genes involved in inherited diseases and published an article on “Autosomal recessive juvenile onset cataract associated with mutation in BFSP1” Hum Genet. 2007 Jan 16.
Visitors
|  Dr.Dorothea Nitsch, Clinical Lecturer - Dr. Pritindir Kaur, Peter Maccallum Cancer Center, Australia came to discuss on Epithelial Stem Cells. - Dr. M. Ramanathan, Professor of Pharmacology, PSG College of Pharmacy, Coimbatore gave a guest lecture on “Understanding the role of neuronal mediators in neurodegenerative processes” - Dr. Dorothea Nitsch, Clinical Lecturer, Department of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London visited on March 15, 2006 for discussion about INDEYE project on Genetics of age related cataract and age related macular degeneration. She also gave a seminar on “Mendelian Randomization” - Dr.Xu ling, Director of Research Division, HE Eye Hospital, China
AMRF Articles Published in Peer Reviewed Journels Asian J.Exp.Sci.
| 2006:20:15-28 SUGANTHALAKSHMI, RAJENDRAN, KIM, NAMPERUMALSAMY, SUNDARESAN - Emerging Patterns of Possible Potential Candidate Gene Polymorphisms Associated with Diabetic Retinopathy – a review.
Nature Genetics
| 2006 Jul; 38 (7):755-7 ERANGA VITHANA, MORGAN, SUNDARESAN, EBENEZER, TAN, ANAND, KHINE, DHIVYA, YONG, SALTO TELLEZ, ANANDALAKSHMI, KE GUO, HEMADEVI, MOIN D. MOHAMED, SRINIVASAN M, PRAJNA, KHINE M, CASEY J, CHRIS F. INGLEHEARN AND TIN AUNG. - Mutations in Na+-borate co-transporter SLC4A11 cause recessive Congenital Hereditary Endothelial Dystrophy CHED2.
BMC J Ophthalmol
| 2006, 6:28 NEETHIRAJAN G, NALLATHAMBI J, KRISHNADAS, VIJAYALAKSHMI, SHASHIKANTH, JON MARTIN COLLINSON AND SUNDARESAN - Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia
Mol Vision
| 2006; 12:336-41 SUGANTHALAKSHMI B, ANAND R, KIM R, MAHALAKSHMI R, KARTHIKPRAKASH S, NAMPERUMALSAMY P, SUNDARESAN P. - Association of VEGF and eNOS gene polymorphisms in type 2 diabetic retinopathy.
2006 12: 1086 - 1092 NALLATHAMBI J, SHUKLA, RAJENDRAN, NAMPERUMALSAMY, MUTHULAKSHMI, SUNDARESAN - Identification of Novel FZD4 mutations in Indian Patients with Familial Exudative Vitreoretinopathy (FEVR)
2006:12:236-42 NALLATHAMBI J, NEETHIRAJAN G, SHASHIKANT S, VIJAYALAKSHMI P, SUNDARESAN P, - PAX6 Missense Mutations Associated in patients with Optic Nerve Malformation
2006;12:190-5 DEVIRR, VIJAYALAKSHMI P. - Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea
2006 (In press) BALASUBBU SUGANTHALAKSHMI, DHANANJAY SHUKLA, ANAND RAJENDRAN, RAMASAMY KIM, JEYABALAN NALLATHAMBI, AND PERIASAMY SUNDARESAN - Genetic variations in the hotspot region of RS1 gene in Indian patients with Juvenile X-Linked Retinoschisis
Indian J Ophthalmol
| 2007;55:27-31 VASANTHI, NAMPERUMALSAMY, PRAJNA, LALITHA, KANNAN MAHADEVAN, MUTHUKKARUPPAN - A Pilot study on the infiltrating cells and cytokine levels in the tear of fungal Keratitis patients.
CORNEA
| 2007 Feb. 26(2) 119-22 CORNEA PRAJNA, NIRMALA, SARAVANAN, SRINIVASAN - An economic analysis of corneal ulcers in South India
2007 Feb. 26(2) 207-11 ROHINI, MURUGESWARI, PRAJNA, LALITHA, MUTHUKKARUPPAN - Matrix Metalloproteinases (MMP-8, MMP-9) and the Tissue Inhibitors of Metalloproteinases (Timp-1, Timp-2) in Keratitis Patients
Indian J Med Res
| 2006 Nov;124(5):553-8. AMALA, KEERTHY, VIJAYALAKSHMI, MUTHUKKARUPPAN - Immune Status of Health Care Personnel and Post vaccination analysis of immunity against Rubella in an Eye Hospital”
J Clin Virol
| 2006; 37:265-8 P.VIJAYALAKSHMI, VR.MUTHUKKARUPPAN, A.RAJASUNDARI, G.KORUKLUOGLU, W.NIGATU, L.A.WARRENER,D.SAMUEL, D.W.G.BROWN - Evaluation of a commercial rubella IgM assay for use on oral fluid samples for diagnosis and surveillance of congenital rubella syndrome and postnatal rubella 2006
Human Genetics
| 2006 Nov 7 ; [Epub ahead of print] NALLATHAMBI J, MOUMNE L, DE BAERE E, BEYSEN D, USHA K, SUNDARESAN P, VEITIA RA. - A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.
2007 [Epub January 16] RAMYA DEVI RAMACHANDRAN, VIJAYALAKSHMI PERUMALSAMY, J.FIELDING HEJTMANCIK - Autosomal recessive juvenile onset cataract associated with mutation in BFSP1
Journal of Genetics
| 2006 (In press) JEYABALAN NALLATHAMBI GURUSWAMY NEETHIRAJAN, KIM USHA, JETHANI JITENDRA, ELFRIDE DE BAERE, AND PERIASAMY SUNDARESAN - FOXL2 mutations in Indian families with Blepharophimosis-Ptosis- Epicanthus Inversus Syndrome
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