Visualization, extraction, analysis, integration and interpretation data of molecular pathways in eye disorders development

Our emerging and stored diagnostic data upon patients with different inherited eye disorders lets us collect valuable information about gene alterations and molecular disturbance when disease is clinically proved. Whith each new piece of data on the condition we obtain new insight in disease development pattern. With several years of experience we now have tens of clinical examples of retinitis pigmentosa and Stargardt disease cases where we have all needed diagnostic information (Russian population) from family history to visual accuity, IOP, ERG, OCT and AF measurements as well as next-gen sequencing pattern.

This gives us an opportunity to speculate about possible mechanisms of clinical signs development in a particular family. That moves us closer to personal and genomic medicine.

Then we build 3D visualisation from genes to proteins and then to cell structure and alterations.

http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1.4588

Marianna E. Ivanova, Olga V. Khlebnikova, Vladimir V. Strelnikov
June 2013