26 research outputs found
Further clinical and molecular delineation of the 15q24 microdeletion syndrome
Background Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and other anomalies. To date, 20 patients have been reported; 18 have had detailed breakpoint analysis. Aim To further delineate the features of the 15q24 microdeletion syndrome, the clinical and molecular characterisation of fifteen patients with deletions in the 15q24 region was performed, nearly doubling the number of reported patients. Methods Breakpoints were characterised using a custom, high-density array comparative hybridisation platform, and detailed phenotype information was collected for each patient. Results Nine distinct deletions with different breakpoints ranging in size from 266 kb to 3.75 Mb were identified. The majority of breakpoints lie within segmental duplication (SD) blocks. Low sequence identity and large intervals of unique sequence between SD blocks likely contribute to the rarity of 15q24 deletions, which occur 8-10 times less frequently than 1q21 or 15q13 microdeletions in our series. Two small, atypical deletions were identified within the region that help delineate the critical region for the core phenotype in the 15q24 microdeletion syndrome. Conclusion The molecular characterisation of these patients suggests that the core cognitive features of the 15q24 microdeletion syndrome, including developmental delays and severe speech problems, are largely due to deletion of genes in a 1.1-Mb critical region. However, genes just distal to the critical region also play an important role in cognition and in the development of characteristic facial features associated with 15q24 deletions. Clearly, deletions in the 15q24 region are variable in size and extent. Knowledge of the breakpoints and size of deletion combined with the natural history and medical problems of our patients provide insights that will inform management guidelines. Based on common phenotypic features, all patients with 15q24 microdeletions should receive a thorough neurodevelopmental evaluation, physical, occupational and speech therapies, and regular audiologic and ophthalmologic screenin
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Arctic Energy Technology Development Laboratory
The Arctic Energy Technology Development Laboratory was created by the University of Alaska Fairbanks in response to a congressionally mandated funding opportunity through the U.S. Department of Energy (DOE), specifically to encourage research partnerships between the university, the Alaskan energy industry, and the DOE. The enabling legislation permitted research in a broad variety of topics particularly of interest to Alaska, including providing more efficient and economical electrical power generation in rural villages, as well as research in coal, oil, and gas. The contract was managed as a cooperative research agreement, with active project monitoring and management from the DOE. In the eight years of this partnership, approximately 30 projects were funded and completed. These projects, which were selected using an industry panel of Alaskan energy industry engineers and managers, cover a wide range of topics, such as diesel engine efficiency, fuel cells, coal combustion, methane gas hydrates, heavy oil recovery, and water issues associated with ice road construction in the oil fields of the North Slope. Each project was managed as a separate DOE contract, and the final technical report for each completed project is included with this final report. The intent of this process was to address the energy research needs of Alaska and to develop research capability at the university. As such, the intent from the beginning of this process was to encourage development of partnerships and skills that would permit a transition to direct competitive funding opportunities managed from funding sources. This project has succeeded at both the individual project level and at the institutional development level, as many of the researchers at the university are currently submitting proposals to funding agencies, with some success