Gene-based therapies are being developed for retinal diseases, including RS1- related X-linked retinoschisis. Therefore it is essential to determine which variants are pathogenic and which are benign when enrolling patients. The Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Diseases (XLRD) Variant Curation Expert Panel (VCEP) brings together clinician scientists, molecular biologists, and geneticists to apply t...

Pathogenic DEGS1 variants have been reported in individuals with autosomal recessive hypomyelinating leukodystrophy 18 (HLD18; MIM# 618404). Here we describe three participants with HLD features and a previously unreported homozygous DEGS1 5′ splice site variant, c.825+4_825 + 5delAGinsTT (NM_003676.4). We used next-generation DNA and transcriptome sequencing, cell-based splicing assays, and tandem mass spectrometry to detect...

Antarctica is designated as a natural reserve devoted to peace and science, with Antarctic Specially Protected Areas (ASPAs) serving as the primary instrument for area‐based biodiversity protection. However, the existing ASPA network lacks the comprehensiveness and representativeness required under Annex V, Article 3(2), of the Madrid Protocol. We demonstrated the application of systematic conservation planning to explore the...

Situated in the Cabo Verde Archipelago, Fogo is among the most active oceanic volcanoes in the Atlantic, hosting frequent eruptions some of which were highly explosive and at least one gravitational flank collapse in the last 100 kyr. This study presents new volcanic glass shard geochemical data with high spatial distribution from 54 sites comprising samples from both pre- and post-collapse times. The analyzed glasses comprise...