Social Factors Key to Landscape-Scale Coastal Restoration: Lessons Learned from Three U.S. Case Studies

In the United States, extensive investments have been made to restore the ecological function and services of coastal marine habitats. Despite a growing body of science supporting coastal restoration, few studies have addressed the suite of societally enabling conditions that helped facilitate successful restoration and recovery efforts that occurred at meaningful ecological (i.e., ecosystem) scales, and where restoration efforts were sustained for longer (i.e., several years to decades) periods. Here, we examined three case studies involving large-scale and long-term restoration efforts including the seagrass restoration effort in Tampa Bay, Florida, the oyster restoration effort in the Chesapeake Bay in Maryland and Virginia, and the tidal marsh restoration effort in San Francisco Bay, California. The ecological systems and the specifics of the ecological restoration were not the focus of our study. Rather, we focused on the underlying social and political contexts of each case study and found common themes of the factors of restoration which appear to be important for maintaining support for large-scale restoration efforts. Four critical elements for sustaining public and/or political support for large-scale restoration include: (1) resources should be invested in building public support prior to significant investments into ecological restoration; (2) building political support provides a level of significance to the recovery planning efforts and creates motivation to set and achieve meaningful recovery goals; (3) recovery plans need to be science-based with clear, measurable goals that resonate with the public; and (4) the accountability of progress toward reaching goals needs to be communicated frequently and in a way that the general public comprehends. These conclusions may help other communities move away from repetitive, single, and seemingly unconnected restoration projects towards more large-scale, bigger impact, and coordinated restoration efforts

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Purpose: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define the clinical and mutational spectrum associated with TRAF7 germline variants in a large series of patients, and to determine the molecular effects of the variants through transcriptomic analysis of patient fibroblasts. Methods: We performed exwct ome, targeted capture, and Sanger sequencing of patients with undiagnosed developmental disorders, in multiple independent diagnostic or research centers. Phenotypic and mutational comparisons were facilitated through data exchange platforms. Whole-transcriptome sequencing was performed on RNA from patient- and control-derived fibroblasts. Results: We identified heterozygous missense variants in TRAF7 as the cause of a developmental delay-malformation syndrome in 45 patients. Major features include a recognizable facial gestalt (characterized in particular by blepharophimosis), short neck, pectus carinatum, digital deviations, and patent ductus arteriosus. Almost all variants occur in the WD40 repeats and most are recurrent. Several differentially expressed genes were identified in patient fibroblasts. Conclusion: We provide the first large-scale analysis of the clinical and mutational spectrum associated with the TRAF7 developmental syndrome, and we shed light on its molecular etiology through transcriptome studies

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define the clinical and mutational spectrum associated with TRAF7 germline variants in a large series of patients, and to determine the molecular effects of the variants through transcriptomic analysis of patient fibroblasts. METHODS: We performed exome, targeted capture, and Sanger sequencing of patients with undiagnosed developmental disorders, in multiple independent diagnostic or research centers. Phenotypic and mutational comparisons were facilitated through data exchange platforms. Whole-transcriptome sequencing was performed on RNA from patient- and control-derived fibroblasts. RESULTS: We identified heterozygous missense variants in TRAF7 as the cause of a developmental delay-malformation syndrome in 45 patients. Major features include a recognizable facial gestalt (characterized in particular by blepharophimosis), short neck, pectus carinatum, digital deviations, and patent ductus arteriosus. Almost all variants occur in the WD40 repeats and most are recurrent. Several differentially expressed genes were identified in patient fibroblasts. CONCLUSION: We provide the first large-scale analysis of the clinical and mutational spectrum associated with the TRAF7 developmental syndrome, and we shed light on its molecular etiology through transcriptome studies