Crowdfunding Helps Identify New Gene Variant In Child With Developmental Delays

July 18, 2012 2:24 a.m.

NEW YORK — Crowdfunding, or fundraising over the Web by soliciting a mass of donors, is good for more than just financing pet projects like music albums and iPhone accessories.

Just ask the Nieders: The New York family of three (and one dog, Parker) have been searching for answers to the cause of four-year-old daughter Maya’s global developmental delays. She hasn’t been able to speak aside from a few short words for most of her life.

Now, thanks to crowdfunding, they may have a clue: Researchers at the Rare Genomics Institute, a nonprofit founded in 2011 dedicated to helping patients with unique genetic diseases, on Tuesday reported that a genome sequencing test performed on Maya’s DNA and paid for with online donations has uncovered a previously unknown gene variant that could be responsible for Maya’s developmental challenges.

“Though we need to do further research to confirm this first gene discovery, it is a major milestone,” said Jimmy Lin, a geneticist at Washington University in St. Louis and the principal founder of the Rare Genomics Institute, in a statement.

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Maya’s mother, Dana Nieder, who has chronicled her family’s life for years on her popular and award-winning personal blog, Uncommon Sense, is more reserved about the results, as Maya has already undergone five previous genetic tests, each of which took six to 12 months, and none of which turned up anything out of the ordinary with her genome.

“I would say that I’m cautiously embracing the results,” Nieder, who is expecting a second child, told TPM, “We have done another test since the preliminary result came back and the results of this secondary test may be able to confirm the initial finding. Those results will likely take another several months.”

Nieder also shared the news earlier with readers on her blog, eloquently describing the overwhelming mix of sometimes contradictory emotions that such news elicited:

So far, honestly, I’m not feeling much. I’ve got a kind of delicious numbness happening, and I know that somewhere beneath it are some good feelings all twisted around some negative ones, and I don’t feel the need to try to sink into that and untangle it all just yet. Instead, I’m going to enjoy the rest of my family’s week off. There’s time for thinking later.

Still, Nieder recognizes the significance of Maya being the first patient to achieve such a result using the Rare Genomic’s Institute’s new crowdfunding pilot program.

“I emailed Jimmy Lin after I spoke with the doctor about our preliminary results and then spoke with him on the phone, when he told me about how we were the first to have success via the crowdfunding model,” Nieder told TPM.

Maya is just one of eight young children that the Rare Genomics Institute has sought to help with its crowdfunded genome sequencing pilot program.

Here’s how RGI as a whole works: Patients and their families apply online to be accepted, then are connected with RGI specialists, who evaluate their case and connect them with certified geneticists and researchers in the nonprofit’s national network. As the genome sequencing is performed, which can take anywhere from six to 12 months to map a patient’s entire DNA, RGI figures out the cost of their test and financing mechanisms.

For the crowdfunding model specifically, some willing participants, including Maya, have photos and short biographies posted on RGI’s own donations webpage, where any Web user with a credit card can donate directly online. Aside from Maya, two other young children, Joaking and Robert, have successfully raised 100 percent of the funds needed to cover the costs of their genetic tests.

The actual cost of each person’s genetic test ranges depending on “the number of family members being sequenced, the site where the sequencing is being done, as well as the type of sequencing chosen,” RGI founder Lin and his friend and colleague, molecular biologist, Naira Rezende explained to TPM via email.

“All money donated to individuals goes directly to their sequencing projects,” Lin and Rezende wrote. “All excess funds go to the project of another child.”

Maya’s project is also notable for being the fastest fully funded and the most overfunded, to the tune of 142 percent, raising $3,550 on a $2,500 goal. The project was fully funded within 6 hours, according to RGI.

The Rare Genomics Institute itself solicits funds for its own operations on a separate webpage.

Genome sequencing involves drawing blood from a patient and sometimes family members, to establish hereditary diseases or conditions. The blood samples are then sent to labs where researchers extract DNA from the blood cells, sequence it — or figure out the order of the base pairs in the patients’ DNA molecules (that’s the G,T,A,C order), which determines how a person’s body functions on the cellular level.

The technology to sequence parts of a person’s DNA has been around since the mid-1970s , but the entire human genome — that is, all the DNA instructions necessary for making a human being, about 30,000 individual genes — wasn’t fully sequenced until the completion of the Human Genome Project in 2003.

In the case of Maya Nieder, some 20,000 genes were sequenced in this test, according to Lin and Rezende, compared to the five tests she took previously, which “focused only on small subjects of genes known to cause diseases.”

The Nieders, and Maya specifically, are also famous for becoming involved another tech issue only tangentially-related: Maya uses a specially designed touch-to-speak iPad app called “Speak for Yourself” as her primary means of communication, but Apple recently pulled it from its App Store after the two companies accused “Speak For Yourself” of patent infringement. Now Maya’s family and the families of two other users of the app are filing a motion to intervene in the case in an attempt to get the app unbanned.

Dana Nieder told TPM she did not think of herself or her family as particularly tech-savvy, however.

“I spent 2 hours this morning (unsuccessfully) trying to get rid of a computer virus, I use free picture & video editing software, and I frequently have to repost blog posts because I can’t fix formatting issues on the first try,” Nieder told TPM in an email.

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