The
Rare Genomics Institute says it has discovered a new gene variant in a four-year-old patient that may indicate a brand new disease.
RGI is an affiliate of the Baltimore City Emerging Technology Center incubator and a nonprofit devoted to helping patients with rare genetic diseases. It uses crowdfunding to finance genomic sequencing pilot projects and is run by 23 volunteers.
Researchers at a medical institution made the discovery in partnership with RGI, President Dr. Jimmy Lin says. It marks the first time that a patient-initiated, crowdfunded genome initiative project has uncovered the genetic basis of a rare disease, he says.
In this case, the child had undergone multiple operations and suffered from developmental delays. Despite visiting numeorus physicians, her condition had remained unexplained until genomic sequencing identified a gene active in fetal development and early childhood as the culprit.
"By looking at the sequence and comparing it with public databases, we were able to find the genetic change in her genome that was not present in either of her parents," Lin says.
He says that while there is no "cure" for her rare disease, the discovery will help the child's physicians better understand her condition and someday may point to better treatment for her and other children like her.
Lin founded RGI last year while still a MD/PhD student at Johns Hopkins University. Now a professor at the Washington University Medical School in St. Louis, Lin says RGI will remain in Baltimore.
Lin says RGI was created to help patients with rare diseases through genomic sequencing, which enables researchers to identify genetic defects that might not show up in standard medical testing.
“We help patients with diseases that are so rare that no organization is helping them, no funding is available to them and no research is being done,” Lin says of diseases that, because of these factors, are often not named..
There are about 7,000 rare diseases, legally defined as affecting from 200,000 people to one person. According to RGI, 80 percent of rare diseases have indentifiable genetic origins; 75 percent or rare diseases affect children; 30 percent of rare disease patients die before the age of 5.
RGI has 18 medical institution partners, including Johns Hopkins and University of Maryland Medical System, which have agreed to do genomic sequencing.
RGI raises the money through a funding model called crowdfunding, in which projects are chosen, highlighted on a website and donations can be made directly to the project via the web site.
Since founding, RGI has highlighted 20 projects and raised more than $50,000. In the project involving the four-year-old child, it raised $3,500 over six hours to pay for her genome sequencing,
As far as Lin knows, RGI is the only nonprofit undertaking this effort. “There are companies that do sequencing and there are companies that do crowdfunding but we are the only ones who’ve connected all the dots,” he says.
Source: Dr. Jimmy Lin, Rare Genomics Institute
Writer: Barbara Pash