Basic Research at AMRF
Proteomics
Fungal keratitis is the ulceration of cornea due to fungal infection that can result in monocular blindness. Many fungal keratitis patients do not respond to the current treatment using antifungal drugs. Hence, the team developed a model based on tear protein levels and ulcer features to identify those patients who might not respond to treatment. These patients can be advised early surgery to prevent the spread of infection.
Diabetic retinopathy (DR) is a microvascular complication that develops in diabetic patients. The team have identified and validated five serum proteins and two serum microparticle proteins as biomarkers for DR. These biomarkers will be useful for predicting the onset and/or the progression of DR in type 2 diabetic individuals.
Molecular genetics
Advances in NGS-mediated genetic testing allowed us to explore the genome and uncover and develop novel genotype-specific treatments for eye diseases. Sanger sequencing, targeted exome sequencing, whole-exome sequencing (WES) and whole mitochondrial DNA sequencing are some of the techniques used to identify genetic determinants of Leber’s hereditary optic neuropathy (LHON), Leber’s congenital amaurosis (LCA), and Juvenile X-linked retinoschisis (JXLR) for better prognosis. Even though these disease conditions are incurable, genetically informed therapies can still be used to improve the long-term outcome of patients.
Genetics of ocular tumors
Retinoblastoma is one of the most common paediatric eye cancers. It is completely treatable if diagnosed on time. Most patients present at late stages and hence their treatment remains challenging. Genetic testing of retinoblastoma in sixty four patients and family members has helped in genetic counselling and predicting the risk in siblings and offspring. The genetic alterations beyond RB1 are identified using the Next Generation Sequencing approaches and drugs against the select genes are developed. Chemoresistance is a major clinical problem causing treatment failure and markers pertaining to stemness is identified and characterized. GD2 synthase is identified as a maker for distant metastasis of retinoblastoma.
Immunology and Stem cell biology
Lens epithelial stem cells: Studies on cataractous donor lenses confirmed that the epithelial stem cells are lost in age-related cataract tissues, and its role in cataract development is being analysed.
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Retinal pigment epithelial stem cells: The stem cells of the human retinal pigment epithelium have been identified to be located in the peripheral region.
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Trabecular meshwork stem cells: The molecular mechanisms regulating the trabecular meshwork stem cell and the modifications that occur with ageing and primary open-angle glaucoma are under investigation.
Bioinformatics:
eyeVarP: eye disease-specific variant prioritization tool
The team developed an eyeVarP tool to identify the disease-causing mutations specific to eye disease from the genome and exome data. This tool uses variants features and eye disease-specific gene knowledge and their tissue-specific expression.
Microbiology
Bacterial keratitis, often caused by Pseudomonas aeruginosa and methicillin-resistant Staphylococcus aureus (MRSA), is a rapid and destructive corneal disease. Many patients have poor treatment outcomes due to their complex pathogenesis. Here the team identified that P. aeruginosa strains carry several exotoxins along with multi-drug resistance mechanisms and further the flagellar genes that they carried were associated with poor treatment outcomes. Further, immune response evasion mechanisms were identified in ocular MRSA strains.
The team identified microRNAs ( small non-coding RNAs), in ocular fluids with a potential diagnostic value that can help to initiate appropriate treatment at the initial stages of ocular TB
Department of Ocular Pharmacology: Role of miRNA in Steroid-Induced Ocular Hypertension/Glaucoma
A perfusion cultured human anterior segment ex vivo model system has been established to induce SI-OHT in human cadaveric eyes to determine steroid responsiveness and the trabecular meshwork (tissue of interest) cells with known steroid responsiveness. The team also identified a set of unique miRNAs ( small non-coding RNAs) and their target genes responsible for steroid responsiveness. Based on this it is possible to design a miRNA-mRNA prognostic marker panel to screen patients who are at risk of developing elevated IOP.
Research and Publications
Total number of publications – 26
Peer-reviewed journals – 26
Ph. D Awarded by Madurai Kamaraj University
T.S. Balaji, Molecular Genetics Department
Thesis : Understanding the Molecular Mechanisms of Chemoresistance in Retinoblastoma
Guide: Dr. A. Vanniarajan
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M.Durga, Molecular Genetics Department
Thesis: Molecular Genetics of Macular Corneal Dystrophy (MCD) in Indian population
Guide: Dr. P. Sundaresan
Conferences conducted
Workshop on Leveraging clinical genomics to improve human health
The one day workshop was organised in a hybrid mode and in collaboration with Premas Life Sciences. It aimed to provide updates on recent developments in next generation sequencing. AMRF faculty and research scholars participated in the workshop and interacted with the technical team from Premas Life Sciences.
International workshop on data science and modern biology
The workshop conducted on December 20 and 21 was planned as a refresher course for young researchers with an aim to update them on the current avenues in the field of modern biology. Along with lecture sessions by experts, two semi- hands on practical sessions were included. It was conducted in a hybrid mode with 70 participants attending in person and guest lectures and practical sessions conducted online.
Awards
