After the honeymoon: The Obama effect on political attitudes and participation

My dissertation takes a mixed-methods approach to investigating the possibility of a lasting Obama Effect on the political attitudes and behaviors of Obama supporters from 2008. Defining the Obama Effect as the extraordinary enthusiasm surrounding Barack Obama’s 2008 campaign, I argue that a short term Obama Effect was clearly present in 2008 based on Obama’s electoral success, fundraising prowess, and ability to inspire volunteerism, as well as on the historic nature of his candidacy. But I ask, was it a lasting effect? My quantitative analyses—built upon panel survey data from the American National Election Studies—suggest little evidence of a lasting campaign effect that was positive and/or unique to Obama supporters. With regard to attitudes and behaviors such as political interest, political efficacy, or attendance of political events, Obama supporters often showed relative declines or stagnation over time when compared to nonsupporters or supporters of previous presidents. My qualitative analysis—based upon interviews with 30 former volunteers from the 2008 Obama campaign—does, however, indicated that the Obama Effect had a deep and lasting impact on his most enthusiastic support base, those who volunteered for his campaign. Many former Obama volunteers remained highly interested, civically engaged, and continually inspired as a result of their activism for the 2008 Obama campaign. In sum, I conclude that while that campaign may not have had its desired transformational effect on the broader American electorate, it did produce a positive and indeed a lasting impact on its most enthusiastic supporters

The effect of the “rod-and-frame” illusion on grip planning in a sequential object manipulation task

We investigated the effect of visual context (i.e., a visual illusion) on the planning of a sequential object manipulation task. Participants (n = 13) had to grasp a rod embedded in a “rod-and-frame” illusion and insert the rod-end into a tight hole in a pre-defined way. The grip type (defined by start posture, either pronated or supinated; and end posture, either comfortable or uncomfortable) used to grasp the rod was registered as a macroscopic variable of motor planning. Different rod orientations forced the participants to switch between grip types. As expected, most participants switched between pronated and supinated start postures, such that they ended the movement with a comfortable end posture. As it has been argued that planning is dependent on visual context information, we hypothesized that the visual illusion would affect the specific rod orientation at which participants would switch into a different grip type. This hypothesis was confirmed. More specifically, the illusion affected the critical spatial information that is used for action planning. Collectively, these findings are the first to show an effect of an illusion on motor planning in a sequential object manipulation task

Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip

Purpose: To develop a high-throughput, cost-effective diagnostic strategy for the identification of known and new mutations in 90 retinal disease genes. Design: Evidence-based study. Participants: Sixty patients with a variety of retinal disorders, including Leber's congenital amaurosis, ocular albinism, pseudoxanthoma elasticum, retinitis pigmentosa, and Stargardt's disease. Methods: We designed a custom 300-kb resequencing chip. Polymerase chain reaction (PCR) amplification, DNA fragmentation, and chip hybridization were performed according to Affymetrix recommendations. Hybridization signals were analyzed using Sequence pilot module seq-C mutation detection software (2009). This resequencing approach was validated by Sanger sequence technology. Main Outcome Measures: Disease-causing sequence changes. Results: We developed a retinal resequencing chip that covers all exons of 90 retinal disease genes. We developed and tested multiplex primer sets for 1445 amplicons representing the genes included on the chip. We validated our approach by screening 87 exons from 25 retinal disease genes containing 87 known sequence changes previously identified in our patient group using Sanger sequencing. Call rates for successfully hybridized amplicons were 98% to 100%. Of the known single nucleotide changes, 99% could be detected on the chip. As expected, deletions could not be detected reliably. Conclusions: We designed a custom resequencing chip that can detect known and new sequence changes in 90 retinal disease genes using a new high-throughput strategy with a high sensitivity and specificity for one tenth of the cost of conventional direct sequencing. The developed amplification strategy allows for the pooling of multiple patients with non-overlapping phenotypes, enabling many patients to be analyzed simultaneously in a fast and cost-effective manner

Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.

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De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine (diagnostic) exome sequencing and targeted resequencing of WAC in 2326 individuals with unexplained ID. All but one mutation was expected to lead to a loss-of-function of WAC. Clinical evaluation of all individuals revealed phenotypic overlap for mild ID, hypotonia, behavioral problems and distinctive facial dysmorphisms, including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin. These clinical features were also previously reported in individuals with 10p12p11 microdeletion syndrome. To investigate the role of WAC in ID, we studied the importance of the Drosophila WAC orthologue (CG8949) in habituation, a non-associative learning paradigm. Neuronal knockdown of Drosophila CG8949 resulted in impaired learning, suggesting that WAC is required in neurons for normal cognitive performance. In conclusion, we defined a clinically recognizable ID syndrome, caused by de novo loss-of-function mutations in WAC. Independent functional evidence in Drosophila further supported the role of WAC in ID. On the basis of our data WAC can be added to the list of ID genes with a role in transcription regulation through histone modification