The Gerber Foundation has awarded Spectrum Health Helen DeVos Children’s Hospital a $350,000 grant to study rare diseases in undiagnosed neonatal patients.
The 350-thousand-dollar grant will allow researchers at Helen DeVos Children’s Hospital to study the use of two genetic tools, rapid whole genome sequencing and RNA-sequencing.
Here’s Dr. Caleb Bupp, Genetic Physican and Division Chief for Medical, Genetics and Genomics at Spectrum and Helen DeVos Children’s Hospital. He says the grant is exciting.
“We’re getting to the place, finally where genetic testing has advanced. That we can actually figure out why these kids are sick. Find the genetic difference. This grant allows us to push the envelope and expand even wider for the genetic understandings that we think are there and we think are the next wave of providing even better care for the sickest and most vulnerable of our population.”
Dr. Bupp says they’ve been using Rapid Whole Genome sequencing for the last 3 years as a clinical tool. He says it’s been successful, but it looked at the DNA. This new study allows them to look at the RNA-which is more of a snap-shot of how the body is functioning in real time.
“And we think, our hypothesis for this study, is understanding the RNA will give us additional insight, into why these kids are sick and will give us more direction in how to treat folks, these kids and knowing what’s going on in their body, right now. Allows us to deliver that precision medicine that’s been talked about, but is finally coming to fruition.”
Researchers plan to expand this approach and will study if using the tools together improves diagnostic accuracy and helps pediatric patients and families better understand their rare or unknown disease. The study is expected to run over the next three years and is done in partnership with Michigan State University.
