NEW YORK (GenomeWeb News) – The Rare Genomics Institute said this week that it has made its first discovery since launching its exome sequencing services for undiagnosed diseases in January.
The institute uses a crowdsourced model to raise funds for patients with undiagnosed diseases to have their exomes sequenced in an attempt to identify the causal mutation.
Researchers identified a novel, de novo mutation in four-year-old Maya Nieder, who suffers from development delays, and are now doing functional studies to validate the finding and to study whether there are available effective treatments.
"Though we need to do further research to confirm this first gene discovery, it is a major milestone," RGI Founder Jimmy Lin, a physician-scientist on the faculty at Washington University in St. Louis, said in a statement.
While the finding will not immediately impact Maya's condition, Lin said he is hopeful that the subsequent studies will be able to provide information that could influence future treatment.
Additionally, because the mutation was identified as de novo, rather than an inherited mutation, the parents know that their risk of having another child with the same disorder is near zero.
In a statement, Maya's mother Dana Nieder said that after spending years seeing doctors trying to diagnose Maya's condition, the finding was surprising. "When you've been looking for the answer for three and a half years, you don't really expect one anymore," she said.
As reported previously by GenomeWeb Daily News' sister publication Clinical Sequencing News, RGI serves as the link between patients and researchers, partnering with genome sequencing centers in the US and raising funds for the sequencing through its website.
It aims to raise between $2,500 and $7,500 for each patient, which covers exome sequencing for the patient and two parents, as well as analysis. In the case of Maya, over $3,500 was raised just six hours after launching the online campaign, with most amounts between $5 and $50.
For the actual sequencing and analysis, RGI partners with 11 different research institutes in the US: the University of Washington, the Institute of Genomic Medicine at the Utah Foundation for Biomedical Research, the Barrow Neurological Institute in Phoenix, Washington University in St. Louis, Duke University, the National Cancer Institute, Johns Hopkins School of Medicine, Columbia University, Yale University, University of Maryland, and Harvard University.