A group of researchers are looking to provide an answer for parents of Valley children who have a rare disorder.
“For families that have gone years without a diagnosis, they can finally find hope with us,” TGen Clinical Research Coordinator Keri Ramsey told News/Talk 92.3 KTAR’s Rob & Karie on Tuesday.
TGen, a group of independent researchers, offers a much more in-depth study than a typical doctor.
“One of the great things that TGEN does is we perform whole genome sequencing, and what that means is that we’re looking at all 20,000 genes in a person’s human genome,” said Ramsey, adding that her company’s process can catch things standard tests can miss.
Ramsey said the sequencing process often provides answers to parents who have none.
“Having a diagnosis also lets a family know what to expect with their child,” she said. “Do they have 5, 10, 15 years with their child? Should they spend countless hours in the hospital performing further testing? Or if a child doesn’t have much longer to live, that means spending quality time at home with them.”
Even if the testing doesn’t give all the answers (TGen has about a 40 percent success rate), it can contribute to further research. When a family turns to TGen, they are enrolled in a study. The researchers will gather samples of the mutated cells and will test them to learn more.
Ramsey said TGen is currently working on a mutation that affects mitochondria, the so-called “power houses” of cells. The children with this mutation suffer from a range of ailments, from loss of sight or hearing to cardiac issues that require them to use a feeding tube.
The cost of sequencing a genome is not cheap, but it has dropped considerably in the past 10 years, from $3 billion in 2003 to about $3,000 today.
“What’s wonderful about our center is that we do receive a lot of private donations as well as a lot of the families that participate in our research help with fundraising,” said Ramsey.
TGen is also a benefactor of the P.F. Chang’s Rock ‘n’ Roll Marathon set for January in Phoenix. The research company has more than 50 runners participating who have raised more than $21,000. Their goal is $50,000.
For more information about TGen, go to helptgen.org.
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