Web Application for Medical Diagnostics

Currently it is very difficult to discover individuals with rare diseases, making it difficult for these individuals to form networks. Many of these diseases manifest conditions that require specialized treatment or living accommodations. If these individuals were able to form communities, they could benefit from localized scale. This also has potential applications for researchers looking to form randomized studies of individuals with certain genetic phenotypes.

My goal was to create a web application to allow patients to input their biographical data, would be combined with their family history to create a ‘pedigree’ to help visualize the inheritance of the trait or disease. Given more time, I would develop a backend to allow the patients to describe their symptoms in their own words and use Natural Language Processing methods to convert these terms into genetic “Human Phenotype Ontology” terms in the backend. Other goals included creating a pedigree tree that would be convenient for the geneticists to edit and looking more into potential network effects to create something that could be of material benefit to patients.