Ophthatome – A knowledgebase for ophthalmic disease research

November 2, 2020

By Dr. N. Soumittra, Disease Head – Ophthalmology, MedGenome Labs

Medical Big Data

Big data and big data analytics are the buzz words that we have been hearing for the past few years, which have relevance in all fields and specialties. In the field of medicine, the process of clinical documentation and analysis have been very meticulous and exhaustive in the past contributing to major discoveries in associating diseases with genes, understanding disease epidemiology and in generating and testing hypothesis. The advances in computational science and data processing have streamlined the management of medical big data creating opportunities to impact the health care system with accurate prognostication and disease management. The sources of medical big data are electronic medical records, medical imaging, clinical registries, large clinical trials, large epidemiological studies and administrative claim records. Medical big data applications include rational clinical decision, predictive or prognostic modelling of disease progression, disease surveillance, public health and research.

MedGenome has taken a lead to create disease-specific knowledgebases using large clinical datasets to initiate hypothesis-driven research in complex diseases.


MedGenome Ophthatome
Figure 1. Overview of the number of patient datasets available for various diseases of different parts of the eye.

Ophthatome – a knowledgebase for ophthalmic disease research was launched in April 2018. This knowledgebase of ocular diseases is a comprehensive collection of clinical, phenotype and biochemical data providing researchers and clinicians with a platform to design studies that address critical unmet needs in eye disorders. Ophthatome currently contains curated clinical and phenotype data of 581,466 cases that includes 524 disease types and 1800 disease subtypes, covering 35 different eye parts and more than 40 clinical variables. Nearly half of the total cohort have longitudinal data with a maximum of five-year follow-up.

The searchable interface enables performing complex queries to select specific disease cohorts based on demographics, disease types and subtypes, disease course or severity, specific tissues affected by the disease, drug response and many other clinical and phenotypic parameters.

The knowledgebase provides options to select cohorts with specific well-defined quantitative and qualitative traits apart from disease types and subtypes. The availability of clinically well-defined disease cohorts facilitates powerful genomic, pharmacogenomic and clinical research to discover novel biology in ocular diseases.

The database would be continuously updated with new data new and follow up cases as registered in the EMR of Narayana Nethralaya.

Ophthatome – Additional Note

Ophthatome is developed by MedGenome in collaboration with Narayana Nethralaya, a tertiary eye care hospital and research institute, Bengaluru. †he ophthatome knowledgebase is built on the electronic medical record data.


#ophthalmic disease research, #disease epidemiology

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