Healio: New DNA technology could help identify rare pediatric diseases
By Sara Kellner
Researchers have identified thousands of new sites in the placenta where genomic imprinting occurs, which they said could help identify genes that are associated with rare disorders.
They described how the long-read genome-sequencing technology works at the Pediatric Academic Societies Meeting.
The technology, called 5-base long-read HiFi genome sequencing, can read DNA molecules that are 100 times longer than normal sequencing technologies, which makes it more accurate at identifying which genes are inherited from mothers vs. fathers, according to Elin Grundberg, PhD, researcher and professor of pediatrics in the Genomic Medicine Center at Children’s Mercy Kansas City. She said it can also read epigenetic signatures — a type of modification of DNA — which helps researchers interpret genetic variation.
Grundberg and Tomi Pastinen, MD, PhD, vice president and associate chief medical officer for clinical research and integration at Children’s Mercy, tested the technology on more than 200 samples from mothers, fathers, as well as placenta between 6 and 8 weeks’ gestation. They were specifically looking for instances of genomic imprinting, which occurs when a child inherits only one working copy of a gene from one parent and not the other.
“Genomic imprinting is a phenomenon that, if dysregulated, can cause congenital disease such as Angelman syndrome or Prader-Willi syndrome,” Grundberg told Healio.
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