First Crowdsourced Gene Discovery

It is gratifying to see the wealth of opportunities that crowdfunding brings to fruition: arts and sciences, applications and sustainable business. Most recently, however, crowdfunding is bettering the health of a little girl named Maya Nieder.

Maya Nieder is four years old and unable to traditionally communicate. For years her parents have struggled to understand what Maya needs and is thinking through hand gestures and sounds that are complicated because of Maya’s weakened muscles. Now, the Rare Genomics Institute (RGI) has been able to isolate the previously unknown gene variant responsible for her developmental delays and weak muscle tone.

Consider this. According to this article:

  • There are nearly 7,000 rare diseases that could be helped by genetic sequencing.
  • These diseases affect nearly 350 million people around the world
  • Gene sequencing with RGI costs $7,500 to seek out new therapies

The RGI team are now hoping that they can help us all understand what makes Maya tick and help her communicate with her family thanks to the $3,500 donated online (the rest provided by Yale University) that led to the previously undiscovered gene.

Not every RGI patient is able to automatically crowdsource online for funding support. Each patient has to have gone through all traditional tests and doctors’ consultations before the institute reviews their case and puts them on their website for a request for funds.

The thing is – wealthy parents who have children who are afflicted by rare genetic conditions are sometimes able to privately fund diagnosis and research, but the practical truth is that many parents just aren’t able to provide that sort of financial backing. According to RGI, Maya’s may be the first crowdsourced gene discovery, but hopefully she won’t be the last. There are many more people out there who could benefit from RGI’s work.

How do you think crowdfunding could change the medical playing field? Is crowdfunding the way to go when compensating for expensive medical procedures?

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