A call to share what’s rare

December 28, 2018 at 1:03 pm  | 
Category: ,

IDG is issuing a call to share what’s rare...and we’re not talking about natural resources.

Given widespread use of the internet and other advances in technology and computing we now have the opportunity to gather missing information crucial for improving treatment of rare diseases.

Did you know that 1 in 10 people are living with a rare disease? That’s nearly 33 million people in the United States alone; over 750 million people across the globe. Despite this staggering count, traversing the diagnostic odyssey with a rare disease is often described as an isolating experience. 

The age of the internet has made great strides to unite patients and families around the unpredictability of many rare conditions. Online communities aggregate to share experiences with a symptom, disease, or treatment plan. Time and again the fact emerges that no two experiences are identical, but there are commonalities. These communities serve as wonderful resources to deal with the frustrations of leaving the doctor’s office with more questions than answers. Clinicians and researchers alike are avid participants searching for new information to aid in their work. 

For decades the burden of the rare disease community has been the extreme costs required to reach patients and specialists separated by great distances. Now this hurdle seems trivial, and it is time to create a modern infrastructure that not only unites the community but can generate the information needed for medical advancement.

It was said by the late philosopher GK Chesterton “It isn’t that they can’t see the solution. It is that they can’t see the problem.”  For biomedical scientists and clinicians, truer words were never spoken. One of the biggest challenges to research is accurate experiemental design, because this requires understanding the topic at hand well enough to predict the nuances of nature that will complicate the study. Researchers are essentially asked to predict the unpredictable, and then validate their predications with meaningful data. If we don’t know what ails a patient, we cannot study it.

Traditional models of medical research put the onerous task of defining these predictions on the scientist. Based on work in other animals or cell lines the scientist looks for signals that can be measured in humans. This model has not been as successful for rare diseases, because we simply don’t understand the condition well enough to develop a good model in the laboratory.  It is time to define a new model.

It is our opinion that the best way to learn about these rare conditions is directly from patient communities, and now we have the capability to do just this. We at IDG are working towards building the structure needed to build scientifically sound research models based on real-life experiences. We have the models for analysis...it is the data that is missing.  

Together we can fill in the gaps. 

Check back for updates exploring these topics as we grow and expand the Health Stories program for deep phenotyping.
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