NEW YORK – HudsonAlpha Institute for Biotechnology said Thursday that it has been awarded a five-year, $2.9 million grant from the National Institutes of Health (NIH) to study rare diseases in children using long-read sequencing.
With the new NIH funding, HudsonAlpha investigator Greg Cooper and collaborators will deploy long-read sequencing to reanalyze the genomes of more than 500 patients with rare diseases who remain undiagnosed after short-read sequencing. The researchers also plan to sequence the genomes of the select individuals' parents, aiming to identify brand new variations between the children and their parents.
The HudsonAlpha researchers hope that the advantages of long-read sequencing will help them to better understand structural variants that were previously hard to solve with short-read sequencing in undiagnosed patients, uncovering the genetic underpinning of their diseases.
"Long-read sequencing holds immense promise for uncovering the genetic causes of diseases," Cooper said in a statement. "By pushing the boundaries of genetic research, we hope to shed light on previously hidden genetic variation and provide more accurate and timely diagnoses."