Using Technology to Increase Access to Rare Disease Research

Here are our introductory comments: 

Elise Brimble is one of the few people who could successfully fill the role of guiding the creation of a platform for a digital Natural History Study.  She draws on her career as a genetic counselor to help build a tool that is an essential prerequisite for clinical trials of any treatments, including those currently under development.  Ciitizen is a company leveraging HIPPA law and medical records to create a digital Natural History Study, complete with normalized data analysis, and machine learning.
After introducing the company, Ms. Brimble gives an overview of the pipeline of information used by the platform, shows the scope of the joint project between Ciitzen and SRF, and leaves us with a snapshot of sample data extraction.

If you have an interest in how machines talk to each other, you will be interested to hear about the international codes used to describe clinical phenotypes, medicines, and measurements. Ciitizen is finding holes in the ability to describe features of our patient population, and working to get new codes adopted to fill that need.  With over 75 patients enrolled to date, we are looking forward to data from the first 100 to be analyzed, and we are excited for the platform and the web-based portal to be ready to show us analysis of our neurodevelopmental disease.

If you are a parent who has not signed up, please do at Ciitizen.com/SYNGAP1, SRF covers all costs.  #SRFdoCiitizen