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...

Consumer demand for ivory perpetuates the unsustainable and illegal killing of African elephants and other wildlife species. Interventions that aim to change consumer behavior are increasingly recognized as a crucial element of demand management. However, poor design and implementation have limited their effectiveness. We evaluated how ivory demand‐management interventions in China and neighboring Southeast Asian countries ali...

Connectivity is widely assumed to benefit biodiversity, but this has not been extensively quantified across multiple taxa and landscapes. Focusing on the UK, where woodland cover is low (13%), we analysed species occurrence records from citizen science for over 800 broadleaf woodland‐associated invertebrate species from 15 taxonomic groups in relation to woodland cover and connectivity. Overall, increased woodland connectivity...

Tropical montane ecosystems are highly vulnerable to global climate change, but their species-level conservation vulnerability assessments generally do not incorporate climate threats. The Colombian páramo is a highly diverse montane ecosystem but it contains relatively few species currently identified as threatened on the IUCN Red List. We explore whether current assessments need revising to account for climate change threats...

Fire is a key driver in savannah systems and widely used as a land management tool. Intensifying human land uses are leading to rapid changes in the fire regimes, with consequences for ecosystem functioning and composition. We undertake a novel analysis describing spatial patterns in the fire regime of the Serengeti‐Mara ecosystem, document multidecadal temporal changes and investigate the factors underlying these patterns. We...