When a child fails to speak or walk on their own unlike peers, raising suspicion of developmental disability, parents are consumed with worry. Genetic testing often fails to identify the cause, deepening their anguish. Now, a Korean medical team has unraveled a clue to these long-mysterious "undiagnosed pediatric neurodevelopmental disorders."
A joint research team — comprising professors Chae Jong-hee, Lee Seung-bok and Kim Soo-yeon of the Department of Clinical Genomic Medicine at Seoul National University Hospital (SNUH) and Professor Choi Jung-min of Korea University — announced Wednesday that they had found a critical clue in "non-coding regions" after analyzing whole-genome data from 15,450 individuals and screening 2,797 patients with neurodevelopmental disorders of unknown cause.
Neurodevelopmental disorders are conditions accompanied by global developmental delay, microcephaly and seizures. Even with next-generation sequencing, which has become widely used in recent years, evaluation of non-coding regions — which do not produce proteins — remains limited, making it difficult to pinpoint clear causes.
