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Currently amphibians are more threatened than birds and mammals with more than one-third of all amphibians facing extinction. In Chile, Darwin's frog (Rhinoderma rufum) is classified as Critically Endangered by IUCN, and no individuals have been found since the 80's. Herein, a species distribution model (SDM) was generated to identify the most likely areas were remaining R. rufum populations might be detected as a first step to help to rediscover this lost frog. The SDM was based on bioclimatic and land cover information with a comprehensive collection of 19 species records compiled from literature, museum records and personal communications. The SDM suggests a potential distribution of R. rufum, which differs slightly from the one previously proposed. However, it shows an overlap with cultivation and artificial areas in Chile. Therefore, it seems likely that the major factor leading to R. rufum declines and possible extinction was anthropogenic habitat destruction. [ABSTRACT FROM AUTHOR]

In the laboratory, wild-caught male Rhinoderma darwinii frogs, but not females, changed body colour from brown to green starting with the appearance of green dorsal spots or a greenish dorsal tone on a brown body colour. After a year in captivity, most males exhibited a greenish or complete green dorsal colour, probably induced by the terrarium's swamp (green) vegetation and season. [ABSTRACT FROM AUTHOR]

The article presents a study on Batrachochytrium dendrobatidis (Bd) in Chilean frogs. The researchers captured frogs manually from six populations found in the temperate forest of Chile during the southern hemisphere summer from December 2009 to February 2010, after which they used a modified real-time (rt) TaqMan polymerase chain reaction (PCR) assay to detect the DNA of Bd. They preserved isolated DNA in Eppendorf microcentrifuge tubes with 98 percent ethanol. They found that Bd was detected in Pleurodema thaul and Batrachyla leptopus for the first time, which adds to concerns about the threat of Bd to the endangered and unique fauna of Chile.

Rare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation of next-generation sequencing into clinical settings, particularly exome and genome sequencing, has resulted in an unprecedented improvement in diagnosis and discovery in the past decade. Nevertheless, these tools are unavailable in many countries, increasing health care gaps between high- and low-and-middle-income countries and prolonging the "diagnostic odyssey" for patients. To advance genomic diagnoses in a setting of limited genomic resources, we developed DECIPHERD, an undiagnosed diseases program in Chile. DECIPHERD was implemented in two phases: training and local development. The training phase relied on international collaboration with Baylor College of Medicine, and the local development was structured as a hybrid model, where clinical and bioinformatics analysis were performed in-house and sequencing outsourced abroad, due to lack of high-throughput equipment in Chile. We describe the implementation process and findings of the first 103 patients. They had heterogeneous phenotypes, including congenital anomalies, intellectual disabilities and/or immune system dysfunction. Patients underwent clinical exome or research exome sequencing, as solo cases or with parents using a trio design. We identified pathogenic, likely pathogenic or variants of unknown significance in genes related to the patients´ phenotypes in 47 (45.6%) of them. Half were de novo informative variants, and half of the identified variants have not been previously reported in public databases. DECIPHERD ended the diagnostic odyssey for many participants. This hybrid strategy may be useful for settings of similarly limited genomic resources and lead to discoveries in understudied populations., (© 2024. The Author(s).)