Sanford Burnham Prebys Apr 13 2026 Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease. The researchers published findings April 3, 2026, in Human Genetics and Genomics Advances that identify the faulty mutated gene. By exploring the biochemical consequences of the mutation , the investigators also showed that this typo in the genetic