Newly identified RPN1 disease helps explain how protein damage can disrupt early brain development

MedicalXpress | Apr 13, 2026

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease. In a paper appearing in Human Genetics and Genomics Advances, the researchers have published findings that identify the faulty mutated gene. By exploring the biochemical consequences of the mutation, the investigators also showed that this typo in the genetic code interferes with normal cellular function, as expected of an unknown congenital disorder of glycosylation (CDG).