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World’s first crowdfunded genome sequencing project uncovers 4-year-old’s unknown genetic disease

Rare Genomics Institute, Ivy League medical research center identify novel gene variant 

St. Louis, MO, July 18, 2012 – The Rare Genomics Institute (RGI), a non-profit organization that uses genome sequencing and other biotechnology to help children with rare genetic diseases, and an Ivy League medical research center have jointly identified a new gene variant in four-year-old Maya Nieder that may indicate a brand-new disease. 

This finding marks the first time that a patient-initiated, crowdfunded genome project has uncovered the genetic basis of a rare disease. 

Suffering from global developmental delays, Maya has undergone multiple operations, is unable to speak, and has difficulty hearing. Despite visiting countless physicians, her condition had remained unexplained for years. Doctors agreed that “something genetic” was responsible for her condition, yet six genetic tests – each screening for a myriad of known genetic defects – yielded no definitive explanation. 

By turning to the Internet to raise funds from a large base of donors, RGI is pioneering a funding model for rare disease research. In an overwhelming response, donors across the United States contributed more than $3,500 to the research project for Maya, with most amounts between $5 and $50 each. The project reached its fundraising goals within just six hours of launching an online campaign. 

The funds for Maya and her parents facilitated full exome sequencing to hunt for the disease gene, and less than one year into the project, researchers have found what they believe to be the culprit behind Maya’s illness: a gene active in fetal development and early childhood. 

“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, who began working with RGI in the spring of 2011. 

Maya’s is one of ten pilot projects that the RGI has created to help children with rare diseases through genome sequencing. By providing a comprehensive look at a patient’s genetic code, sequencing enables researchers to identify genetic defects that might otherwise elude standard medical testing. 

Since standard genetic testing can only find previously identified mutations, Maya's condition would have remained unexplained without sequencing. 

“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.” 

As research into Maya's condition continues, her researchers are studying the protein coded by the gene in question. This work will help Maya's physicians better understand her condition and may someday point toward a treatment for Maya and other children like her.

About RGI

The Rare Genomics Institute (RGI) is a non-profit organization that uses genome sequencing and other biotechnology to help children with rare genetic diseases. RGI hopes to provide new answers and treatments to those affected by rare, otherwise unexplainable genetic disorders. Through crowdfunding, RGI aims to bridge the gap between science and patient care by securing funds for patients needing sequencing. RGI is on the verge of discovering new treatments that could help thousands of future patients with rare diseases. 

About Maya

Maya is a four-year old delight. She's wiggly and giggly and has a partner in crime, her dog Parker. She loves animals, other kids, being naughty, and life as a whole. Dana, Maya’s mother, writes an award-winning blog called Uncommon Sense at