Author Archives: Ana Pena, PhD

Genome Sequencing Accurately, Rapidly Diagnosed CLN8 Variants in Boy, 8

Chinese researchers used an advanced genetic sequencing technique to identify two new pathogenic variants of the CLN8 gene in a boy with suspected neuronal ceroid lipofuscinosis (NCL), or Batten disease. Molecular diagnosis was delivered within three weeks, demonstrating the advantages of using genome sequencing for providing fast and…