New DNA mapping technology uncovers genetic clues to rare diseases

Cutting-edge DNA mapping technology identified new genetic information that can help researchers decipher more genetic diseases, a new study found. The research will be presented at the Pediatric Academic Societies (PAS) 2025 Meeting, held April 24-28 in Honolulu. 

The technology identified more genomic imprinting in DNA-10 times as much-than previously published data. Genomic imprinting occurs when only one parent's gene is expressed in a child's genetic makeup, which contributes to rare pediatric diseases, according to researchers. 

Study authors said the technology, known as HiFi long-read sequencing, helps identify patterns in DNA that could show which parent is linked to genomic imprinting. 

Genomic research is uniquely powerful and new technologies continue to enhance understanding of rare diseases. The novel HiFi long-read sequencing technology helps researchers uncover insights into human development and potentially identify diseases that have eluded science." 

Elin Grundberg, PhD, Genomic Medicine Center, Children's Mercy Kansas City and presenting author

Researchers applied the technology to more than 200 genetic samples from cells of nearly 70 six-to-eight-week-old placentas at Children's Mercy Kansas City.