Production and calibration of the first HEFT hard x-ray optics module

Complete hard X-ray optics modules are currently being produced for the High Energy Focusing Telescope (HEFT), a balloon born mission that will observe a wide range of objects including young supernova remnants, active galactic nuclei, and galaxy clusters at energies between 20 and 70 keV. Large collecting areas are achieved by tightly nesting layers of grazing incidence mirrors in a conic approximation Wolter-I design. The segmented layers are made of thermally-formed glass substrates coated with depth-graded multilayer films for enhanced reflectivity. Our novel mounting technique involves constraining these mirror segments to successive layers of precisely machined graphite spacers. We report the production and calibration of the first HEFT optics module

Copy Number Variation in Familial Parkinson Disease

Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV in PARK2 (but not a single missense mutation) may increase risk for PD. We recently performed a genome-wide association study for PD that excluded individuals known to have either a LRRK2 mutation or two PARK2 mutations. Data from the Illumina370Duo arrays were re-clustered using only white individuals with high quality intensity data, and CNV calls were made using two algorithms, PennCNV and QuantiSNP. After quality assessment, the final sample included 816 cases and 856 controls. Results varied between the two CNV calling algorithms for many regions, including the PARK2 locus (genome-wide p = 0.04 for PennCNV and p = 0.13 for QuantiSNP). However, there was consistent evidence with both algorithms for two novel genes, USP32 and DOCK5 (empirical, genome-wide p-values<0.001). PARK2 CNVs tended to be larger, and all instances that were molecularly tested were validated. In contrast, the CNVs in both novel loci were smaller and failed to replicate using real-time PCR, MLPA, and gel electrophoresis. The DOCK5 variation is more akin to a VNTR than a typical CNV and the association is likely caused by artifact due to DNA source. DNA for all the cases was derived from whole blood, while the DNA for all controls was derived from lymphoblast cell lines. The USP32 locus contains many SNPs with low minor allele frequency leading to a loss of heterozygosity that may have been spuriously interpreted by the CNV calling algorithms as support for a deletion. Thus, only the CNVs within the PARK2 locus could be molecularly validated and associated with PD susceptibility

A tradeoff investigation for the BepiColombo Laser Altimeter design

The BepiColombo Laser Altimeter (BELA) is a proposed experiment for the BepiColombo mission to the planet Mercury. BELA is intended to provide payload-to-surface ranging data from a spacecraft in a polar Hermean orbit by measuring the time-of-flight of outgoing laser pulses and their echoes. As proposed, BELA also will provide small-scale surface variation and reflectivity data via characterization of return pulse forms. Primary instrument components include a low frequency pulsed Nd:YAG laser transmitter and a reflective receiver telescope feeding a silicon avalanche photodiode to capture pulse echoes with a direct detection approach. To assist with the evaluation of various design strategies, we have developed a numerical model of the instrument that returns a signal-to-noise-ratio figure of merit, as well as simulated return pulses, according to a diverse set of hardware specifications and viewing geometries as input parameters. An analysis of large sets of simulated pulses assists with the estimation of measurement accuracy. This model has been used to investigate the performance of a variety of instrument configurations, and some tradeoffs leading to the favored design will be described