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...

Understanding how genetic variants influence disease risk through molecular mechanisms remains a central challenge in complex disease genetics. Nonsyndromic orofacial clefts (OFCs) exemplify this challenge, with most risk loci residing in non-coding regions. We hypothesized that common genetic variants influence OFC risk by modulating DNA methylation at regulatory elements through methylation quantitative trait loci (meQTLs)....

The first Vascular Contributions to Cognitive Impairment and Dementia (VCID) Workshop, held on May12-16, 2025 at The Jackson Laboratory, provided scientific content and career development training in the latest developments in VCID and Alzheimer’s Disease (AD) and related dementia (ADRD). The Workshop aimed to foster interdisciplinary collaborations and empower the next generation of diverse scientists to advance ADRD research...

Urban wastewater systems represent important interfaces between human activity and the environmental occurrence of antimicrobial resistance (AMR) markers. We assessed the temporal dynamics of intI1 , ermB , and the 16 S rRNA gene by quantitative PCR across three wastewater systems (EPC, CJC, and JW) in Fortaleza, Brazil, from November 2021 to November 2023. Bacterial communities were additionally characterized by 16 S rRNA gen...

Bacteremia is a major health problem that affects millions of people worldwide. E. coli is one of the main pathogens associated with bacteremia and its resistance to the antimicrobial drugs, including β-lactams, has significantly increased in recent years. In view of the above, our objective was to determine the antimicrobial resistance profile of 60 E. coli isolates obtained from patients with bacteremia, as well as to charac...

The genus Streptomyces is recognized as a source of secondary metabolites (SMs) with applications in medicine, industry, and agriculture. This study presents the description and characterization of a new Streptomyces species, isolated from sediments of the Madeira River in the Brazilian Amazon. Four strains (CPAA MAD 27, CPAA MAD 39, CPAA MAD 42, and CPAA MAD 51) were obtained from sampling sites distributed along the river. T...

Saliva plays a crucial role in oral defense across mammals by combining host-derived antimicrobial factors with antagonistic indigenous microbiota. Understanding the composition of the oral lactic microbiota in wild canids may provide valuable insights into microbial ecology and animal health. In this study, Lactobacillus and Enterococcus spp. isolated from the saliva of South American bush dogs ( Speothos venaticus ) and mane...

Gonatobotryum is an anamorphic fungus reported mainly as a saprophyte, parasite, or endophyte. The genus has traditionally been identified based on morphological features, with its phylogenetic placement remaining uncertain due to the lack of molecular data. During the analysis of fungi obtained from mangrove sediments in Brazil, nine isolates were morphologically identified as Gonatobotryum and subsequently analysed using the...