Crowdfunding rare disease research – one family at a time

NewImageIf 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. The researchers reported a novel genetic variant in Maya that caused a failure to produce a protein related to fetal development. This may be the very reason Maya is sick. Researchers are now confirming this finding and possibly finding a therapeutic that may help Maya. What is amazing is that this entire line of research, including this new discovery, would not have existed if not for Maya’s mother’s persistence and the generosity of those that donated.

While more studies are needed to analyze the exact function of the gene, this is definitely a major success for rare disease patients. This model shows great promise in complementing existing efforts in rare diseases For the many diseases and patients that current funding and research cannot cover, this model may be a solution for a diagnosis or even a cure.

At RGI, we strongly believe that all diseases should be studied. No matter how few affected. No matter how rare. Ask Maya.

Newly discovered gene may explain 4-year-old's rare disease


  1. The more of these extremely rare diseases that are studied, the better the techniques to identify genetic disorders gets and the better our understanding of the genome gets. So even though a person might not believe it is worth loads of money to save one life, more are indirectly influenced in the long run. And with this method of funding a requirement should be that the results are “open sourced” and not patented.

    1. Yes! We learn a lot about how things work when we look at why and what caused something to fail to work. By looking at these rare disorders we learn what gene failed to work and what kind of things it caused, and by this we can potentially learn a lot of new things about what that gene does when it does work.

  2. Am I the only one just a little eeked by the idea of crowdfunding for this kind of thing? I can’t help thinking “Sorry, Tommy, you’re not cute enough, and your parents have lousy writing skills, so you’re going to die.” I know it’s not zero-sum, and that the alternative these days is nothing at all, but still.

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