Crowdfunded Research Uncovers Unknown Gene Variant

Crowdfunding is the practice of using the Internet to raise small amounts of money from a large base of donors 

The story of four-year-old Maya Nieder begins like that of many children with a rare disorder but has recently taken an amazing turn. Maya’s parents knew early on that she was different. She wasn’t meeting developmental milestones, is unable to speak and has difficulty hearing. Despite countless physician visits and rigorous testing, her condition remained unexplained. Doctors agreed that her condition had a genetic origin, yet six rounds of genetic testing—each time screening for multiple known genetic defects—turned up no definitive explanation or diagnosis.

Maya’s story starts to turn when her family begins working with the Rare Genomics Institute (RGI). The nonprofit organization uses genome sequencing to help children with rare genetic diseases. They take a unique approach—through crowdfunding, RGI “aims to bridge the gap between science and patient care by securing funds for patients needing sequencing.”

Donations via crowdfunding
Crowdfunding is the practice of using the Internet to raise small amounts of money from a large base of donors. Families who want their child’s genome sequenced apply online, and if they are accepted, RGI connects them with one of their network’s certified geneticists and researchers. According to RGI’s website, “patients can gain access to world-class genomic sequencing and interpretation services at a much lower cost compared to commercially-equivalent solutions.” RGI also offers the fundraising platform.

In Maya’s case, donors contributed more than $3,500, with most of them giving between $5 and $50 each. The necessary funds were raised in only six hours. Maya is one of RGI’s 10 pilot projects; others are still looking for funding. The organization is a fascinating example of how the Internet and social media have changed traditional methods of research and fundraising.

A discovery
Less than a year into the project, Yale researchers identified in Maya a new gene variant that may indicate a brand-new rare disease. “When you’ve been looking for the answer for three and a half years, you don’t really expect one anymore,” said Maya’s mother, Dana Nieder, via an RGI press release. Dana writes about the family in an award-winning blog called Uncommon Sense.

“Though we need to do further research to confirm this first gene discovery, it is a major milestone,” said RGI founder Jimmy Lin, MD, PhD, a physician-scientist on the faculty at Washington University in St. Louis and a 2012 TED Fellow. “The most exciting part of Maya’s project is that we are enabling research that could not exist otherwise. Through RGI’s network of academic institutions and crowdfunding, we hope to remove the barriers to technology access and funding to empower families like Maya’s to advance research for their loved one’s rare disease.”

This discovery is just the beginning, as research into Maya’s condition continues. However, Maya is a remarkable example of the power of patient-initiated research and crowdfunding to advance science in rare diseases.

About Eileen O'Brien

Eileen has more than 16 years of digital healthcare marketing experience. She is an opinion leader on social media and biopharma, and has been invited to speak at industry conferences and quoted in publications. She can be found on Twitter at @EileenOBrien and on Google+.

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