Crowdfunding rare disease research – one family at a time

If one of your loved ones was sick, what would you be willing to do to help? For millions of Americans in the US, even though they would give up anything and everything, there is no way for them to help. For many rare diseases, because they are so rare, there are no therapies or even diagnostics. What is needed is research. However, very few people have the funding and the access to the technology needed to perform such a study. Non-profits and foundations have been a major force in pushing forward research, but for many rare diseases, no such groups exist. Rare Genomics Institute (RGI) is hoping to change that, especially for children such as Maya.

Struggling with global developmental delays, Maya has not been able to speak, has had problems hearing, and has undergone many surgeries. However, after many genetic tests, there still was no answer. Then Maya’s mother found out about RGI and how they are helping children with rare diseases. With RGI’s help, Maya’s mother was able to connect with researchers and design a custom research project just for her daughter.

Using RGI’s crowdfunding platform, Maya’s family sought to raise the amount needed. The response was overwhelming. Within 6 hours, donors from all over the US gave to their cause in small amounts of $5 - $50 to raise the funds necessary for whole exome sequencing. With the funding available, the scientists were able to start the research study.

In less than a year, there was a promising result. Read the rest