14 research outputs found

    The SU RD Team: Serving Research at Syracuse University

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    Research development is growing in many ways – both as a profession and as a common substructure among institutions of higher education. NORDP itself has helped to support the establishment, fostering, and recognition of the many forms research development has taken, while growing in tandem as an organization. Leadership and representatives from large centralized RD units have contributed to and benefited from the model of peer education, support and mentorship NORDP provides, as have the individuals who serve as one-man or one-woman shops for smaller schools or colleges. At Syracuse University, NORDP has served as the impetus for the development of a new model of research development support, the combined centralized and distributed “SU RD team.” In the spring of 2018, Syracuse University (SU) added a research development unit to the University’s Office of Research, to coordinate activities across the institution. The growth of the office has been slow in size, but the number of activities supported have been significant, such as the fostering of a new, large intramural funding program, a staggering growth in limited submission competitions, and the doubling of grant- and research-related training opportunities on campus. This level of activity, as well as a successful campus-wide adoption of these initiatives, is directly attributable to the University’s unique employment of a team of research development professionals, comprised of members of the centralized Office of Research, and from the Dean’s offices of five of the eleven degree granting schools and colleges at SU. The proposed poster will provide a written and visual representation of this network of RD professionals within one institution, as a case study designed to share best practices of intra-university research development collaborations. Emphasis will be placed on regular shared activities between team members, which both support and stem from the close, working relationships developed in the team

    De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits:report of 25 new individuals and review of the literature

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    TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for ASD and intellectual disability (ID) in functional and clinical reports since 2011, TBR1 has only recently been recorded as a human disease gene in the OMIM database. Currently, the neurodevelopmental disorders and structural brain anomalies associated with TBR1 variants are not well characterized. Through international data sharing, we collected data from 25 unreported individuals and compared them with data from the literature. We evaluated structural brain anomalies in seven individuals by analysis of MRI images, and compared these with anomalies observed in TBR1 mutant mice. The phenotype included ID in all individuals, associated to autistic traits in 76% of them. No recognizable facial phenotype could be identified. MRI analysis revealed a reduction of the anterior commissure and suggested new features including dysplastic hippocampus and subtle neocortical dysgenesis. This report supports the role of TBR1 in ID associated with autistic traits and suggests new structural brain malformations in humans. We hope this work will help geneticists to interpret TBR1 variants and diagnose ASD probands

    Executive attentional resources in timing: Effects of inhibitory control and cognitive aging

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    This research is based on an executive resource theory of timing, which postulates that time perception relies on specialized attentional resources that support executive cognitive functions. In 4 experiments, older and younger participants performed a timing task and an executive task emphasizing inhibitory control under both single-task and dual-task conditions. The timing task in each experiment was serial temporal production. The executive tasks, representing different types of inhibitory control, were the flanker task (Experiment 1), the number-letter task (Experiment 2), the go/no-go task (Experiment 3), and the antisaccade task (Experiment 4). The results showed (a) a pattern of bidirectional interference in each experiment, in that the concurrent inhibition tasks interfered with timing performance and concurrent timing interfered with inhibition performance, (b) the older participants demonstrated a stronger bidirectional interference effect relative to younger participants in 3 experiments, and (c) weaker versions of the inhibition tasks produced weaker interference effects. These findings support the idea that temporal processing relies on executive attentional resources

    Drugged Driving: An Examination of the Prescription Drug Crisis and Possible Interventions

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    Prescription drug misuse is becoming one of the fastest growing problems the U.S. faces. “Researchers estimate that in 2007, approximately 27,000 unintentional drug overdose deaths occurred in the United States, one death every 19 minutes”[i]. Many of these drugs are obtained because they were neither stored nor disposed of properly. In January 2018, Youth Connections and Helena’s Drugged Driving Prevention Task Force asked Carroll’s Public Health Theories and Practice course (PH333) to assess the problem of prescription drug abuse in our area and then to create, implement, and evaluate a program for area residents. Through the course, students completed a literature review, ten interviews, twelve environmental scans, and one focus group of parents to determine the extent of the problem. The students then created programs that included posters and community meetings to help educate area residents of this significant problem. Citation: [i] CDC grand rounds: prescription drug overdoses - a U.S. epidemic. MMWR. 2012 Jan 13;61(1):10-3. https://www.ncbi.nlm.nih.gov/ pubmed/22237030. Accessed Feb 15, 2018

    Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

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    Bain type of X-linked syndromic intellectual developmental disorder, caused by pathogenic missense variants in HRNRPH2, was initially described in six female individuals affected by moderate-to-severe neurodevelopmental delay. Although it was initially postulated that the condition would not be compatible with life in males, several affected male individuals harboring pathogenic variants in HNRNPH2 have since been documented. However, functional in-vitro analyses of identified variants have not been performed and, therefore, possible genotype-phenotype correlations remain elusive. Here, we present eight male individuals, including a pair of monozygotic twins, harboring pathogenic or likely pathogenic HNRNPH2 variants. Notably, we present the first individuals harboring nonsense or frameshift variants who, similarly to an individual harboring a de novo p.(Arg29Cys) variant within the first quasi-RNA-recognition motif (qRRM), displayed mild developmental delay, and developed mostly autistic features and/or psychiatric co-morbidities. Additionally, we present two individuals harboring a recurrent de novo p.(Arg114Trp), within the second qRRM, who had a severe neurodevelopmental delay with seizures. Functional characterization of the three most common HNRNPH2 missense variants revealed dysfunctional nucleocytoplasmic shuttling of proteins harboring the p.(Arg206Gln) and p.(Pro209Leu) variants, located within the nuclear localization signal, whereas proteins with p.(Arg114Trp) showed reduced interaction with members of the large assembly of splicing regulators (LASR). Moreover, RNA-sequencing of primary fibroblasts of the individual harboring the p.(Arg114Trp) revealed substantial alterations in the regulation of alternative splicing along with global transcriptome changes. Thus, we further expand the clinical and variant spectrum in HNRNPH2-associated disease in males and provide novel molecular insights suggesting the disorder to be a spliceopathy on the molecular level
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