Project: Improving Rare and Orphan Disease Diagnostic Time and Enabling Therapy Development

Project: Improving Rare and Orphan Disease Diagnostic Time and Enabling Therapy Development

Overview

Rare or orphan diseases, as defined by the U.S. Rare Disease Act of 2002, are those diseases that affect fewer than 200,000 inhabitants. While these diseases are individually quite rare, there are approximately 8,000 such diseases in the U.S., affecting in total approximately 10 percent of the population of the U.S. For the KC area, this means approximately 250,000 individuals are affected by rare diseases.

Treatment of these diseases is complicated by two factors: the average time to diagnose a rare disease (from symptom onset to diagnosis) is 4.8 years on average, and each disease is so rare that gathering a clinical sample for testing the efficacy of potential treatments is difficult.

In partnership with RareKC, a regional advocacy group for patients and their families affected by rare and orphan diseases, the 1Data structure aims to tackle this problem with three approaches.

First, we seek to create a best-in-class platform for patients and their families to share their experience with diseases, treatments, and advocacy.

Second, we seek to create a questionnaire powered by RedCap to capture the patient diagnostic odyssey, so that the common experience of patients across all rare and orphan diseases can be examined to identify discriminating factors that allow for more rapid diagnoses of these diseases.

Lastly, by typing these diseases — many of which have genetic components — to naturally occurring animal models of these diseases, we seek to create viable opportunities to test potential therapies in animal models, bolstering the research to enable these therapies to more quickly be moved towards approval in humans.