Using social network analysis to assess communications and develop networking tools among climate change professionals across the Pacific Islands region / Uso del análisis de redes sociales para evaluar las comunicaciones y desarrollar herramientas de networking entre los profesionales del cambio climático en la región de las Islas del Pacífico

The climate science community of professionals in Hawai’i and the U.S.-Affiliated Pacific Islands is a vast interdisciplinary and international group, with the potential for spatial and sectoral barriers to communication and collaboration. This study sought to (1) assess the structural nature and expanse of climate-based communication between professionals across sectors in the Pacific Islands region; (2) identify key regional hubs and isolated groups both sectorally and spatially; and, (3) create a set of place-based tools that would increase and facilitate the connectedness of climate change resources (human, research, and adaptation). Social network analysis was chosen as a versatile method to assess the network and create free tools to facilitate future collaborations among stakeholders across spatial and disciplinary boundaries. Given the complexities of the large network, an innovative approach was used for data collection, blending a nominalist (researcher-created list of names) and realist (participant-created list in open fields) survey construction. Participants indicated frequency of communication to capture both active coworkers and periodic collaborators, consistent with the realities of the network. Survey participation was not confidential and was used to create region-wide and sub-regional maps that can be used by stakeholders to increase connectedness, in line with use-inspired science. Study results reveal a simultaneously diffuse and strongly connected network, with no isolated spatial or sectoral groups. The most central network members are those with a strong networking component to their professions. Gaps in communication were also revealed. Future research should evaluate the use and long term benefits of the created networking tools, and the specific nature of local and international communications within each sub-network

La comunidad de profesionales del cambio climático en Hawai y las islas asociadas del Pacífico (Estados Unidos) es un grupo internacional amplio e interdisciplinario, que se enfrenta a posibles barreras espaciales y sectoriales de comunicación y colaboración. Este estudio trata de (1) evaluar la naturaleza estructural y la extensión de las comunicaciones centradas en el clima entre los profesionales de la región de las Islas del Pacífico; (2) identificar los ejes clave y los grupos aislados, tanto sectorial como espacialmente; y (3) crear un conjunto de herramientas locales que aumentarían y facilitarían la conexión entre los recursos contra el cambio climático (humanos, de investigación y de adaptación). El análisis de redes sociales se eligió como un método versátil para evaluar la red y crear herramientas gratuitas para facilitar futuras colaboracionales entre las partes interesadas. Dada la complejidad de la red, se siguió un enfoque innovador para la recolección de datos, combinando una estrategia nominalista (una lista de nombres creada por el investigador) y realista (una lista creada por los participantes en campos abiertos) en el diseño de la encuesta. Los participantes indicaron la frecuencia de comunicación para diferenciar a los compañeros de trabajo activos de los colaboradores periódicos, de acuerdo con la naturaleza de la red. La participación en la encuesta no fue confidencial y se utilizó para crear mapas de carácter regional y sub-regional que pudiesen ser utilizados por las partes interesadas para aumentar la conexión. Los resultados muestran una red difusa y fuertemente conectada, sin grupos aislados espacial o sectorialmente. Los más centrales fueron aquellos con un componente de networking importante en su ejercicio profesional. También se identificaron problemas de comunicación. Las investigaciones futuras deberían evaluar el uso y los beneficios a largo plazo de las herramientas de networking diseñadas, así como las subredes locales e internacionales específicas

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with del(17)(p11.2p11.2). The phenotype is variable even in patients with deletions of the same size. RAI1 has been recently suggested as a major gene for majority of the SMS phenotypes, but its role in the full spectrum of the phenotype remains unclear. Df(11)17/+ mice contain a heterozygous deletion in the mouse region syntenic to the SMS common deletion, and exhibit craniofacial abnormalities, seizures and marked obesity, partially reproducing the SMS phenotype. To further study the genetic basis for the phenotype, we constructed three lines of mice with smaller deletions [Df(11)17-1, Df(11)17-2 and Df(11)17-3] using retrovirus-mediated chromosome engineering to create nested deletions. Both craniofacial abnormalities and obesity have been observed, but the penetrance of the craniofacial phenotype was markedly reduced when compared with Df(11)17/+ mice. Overt seizures were not observed. Phenotypic variation has been observed in mice with the same deletion size in the same and in different genetic backgrounds, which may reflect the variation documented in the patients. These results indicate that the smaller deletions contain the gene(s), most likely Rai1, causing craniofacial abnormalities and obesity. However, genes or regulatory elements in the larger deletion, which are not located in the smaller deletions, as well as genes located elsewhere, also influence penetrance and expressivity of the phenotype. Our mouse models refined the genomic region important for a portion of the SMS phenotype and provided a basis for further molecular analysis of genes associated with SMS.