17 research outputs found
Genome-wide association study identifies 30 Loci Associated with Bipolar Disorder
This paper is dedicated to the memory of Psychiatric Genomics Consortium (PGC) founding member and Bipolar disorder working group co-chair Pamela Sklar. We thank the participants who donated their time, experiences and DNA to this research, and to the clinical and scientific teams that worked with them. We are deeply indebted to the investigators who comprise the PGC. The views expressed are those of the authors and not necessarily those of any funding or regulatory body. Analyses were carried out on the NL Genetic Cluster Computer (http://www.geneticcluster.org ) hosted by SURFsara, and the Mount Sinai high performance computing cluster (http://hpc.mssm.edu).Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants with P<1x10-4 in an additional 9,412 cases and 137,760 controls. Eight of the 19 variants that were genome-wide significant (GWS, p < 5x10-8) in the discovery GWAS were not GWS in the combined analysis, consistent with small effect sizes and limited power but also with genetic heterogeneity. In the combined analysis 30 loci were GWS including 20 novel loci. The significant loci contain genes encoding ion channels, neurotransmitter transporters and synaptic components. Pathway analysis revealed nine significantly enriched gene-sets including regulation of insulin secretion and endocannabinoid signaling. BDI is strongly genetically correlated with schizophrenia, driven by psychosis, whereas BDII is more strongly correlated with major depressive disorder. These findings address key clinical questions and provide potential new biological mechanisms for BD.This work was funded in part by the Brain and Behavior Research Foundation, Stanley Medical Research Institute, University of Michigan, Pritzker Neuropsychiatric Disorders Research Fund L.L.C., Marriot Foundation and the Mayo Clinic Center for Individualized Medicine, the NIMH Intramural Research Program; Canadian Institutes of Health Research; the UK Maudsley NHS Foundation Trust, NIHR, NRS, MRC, Wellcome Trust; European Research Council; German Ministry for Education and Research, German Research Foundation IZKF of Münster, Deutsche Forschungsgemeinschaft, ImmunoSensation, the Dr. Lisa-Oehler Foundation, University of Bonn; the Swiss National Science Foundation; French Foundation FondaMental and ANR; Spanish Ministerio de Economía, CIBERSAM, Industria y Competitividad, European Regional Development Fund (ERDF), Generalitat de Catalunya, EU Horizon 2020 Research and Innovation Programme; BBMRI-NL; South-East Norway Regional Health Authority and Mrs. Throne-Holst; Swedish Research Council, Stockholm County Council, Söderström Foundation; Lundbeck Foundation, Aarhus University; Australia NHMRC, NSW Ministry of Health, Janette M O'Neil and Betty C Lynch
The challenge of more light, the complexity of culture: lessons learned in exploring the cultural positioning of literacy teachers
Sotakarjut : Roolipelin visuaalinen taide ja ammatillinen vuorovaikutus projektityöympäristössä.
Opinnäytetyöni pohjautuu vuonna 2012 julkaistavaan roolipelikirjaan nimeltä Sotakarjut. TAMKista valmistuvana visuaalisena suunnittelijana olin mukana piirtämässä sekä konseptitaiteidetta, että kuvituskuvia kyseistä teosta varten. Kyseisen projektin aikana työskentelin sekä taiteellisen johdon alaisuudessa, että osana useamman kuvittajan/konseptitaiteilijan muodostamaa työryhmää, jolloin taiteellisesta ja ammatillisesta vuorovaikutuksesta tuli selkeä osa projektin kulkua. Näistä lähtökohdista päätin myös kirjoittaa opinnäytetyöni kirjallisen osuuden.
Opinnäytetyöni tarkoitus on valaista monin tavoin vuorovaikutteiseksi muodostuvien projektityöympäristöjen vaikutusta taiteilijaan niin kuvittajan, kuin konseptitaiteilijan ammattissa. Valitsemaani aihetta lähestyn tekemäni projektin rajaaman kontekstin sisällä käymällä aluksi läpi nämä kaksi visuaalisen suunnittelun ammattihaaraa kartoittamalla taiteilijan roolia osana laajempaa projektityöympäristöä, ja tarjoamalla käytännön kautta lähestyvää näkökantaa esittelemilleni asioille. Tutkin sekä ulkoisen, että sisäisen vuorovaikutuksen merkitystä ja niiden luomia mahdollisuuksia luovalla alalla toimivan taiteilijan näkökulmasta. Esitän myös käytännön tapoja siitä, miten nämä vuorovaikutukselliset elementit voidaan valjastaa palvelemaan yksilön omaa ammatillista ja taiteellista kehitystä.My thesis work is based on a traditional role-playing-game that is set to be published in the year 2012, a book titled Sotakarjut. About to graduate from TAMK, Tampere University of Applied Sciences, as a visual designer I took part in this project, in a role that covered two distinct fields of profession: concept art and a illustration. As an single artist I worked under a artistic supervision and within a project that had several illustrators/consept artist in its ranks, thus making it essential to work as a singular creative team.
In this thesis I will try to shed some light on how project-related work enviroments involves a specific kind of artististic approach from professional consept artists and illustrators. Having my project part work as my general context, I will start by making a general introduction on both of these creative professions, giving an overview on the subject of artististic work within project enviroments. I will also present a practical approach by adding examples from my actual project to support the theory based information I am presenting. In addition I will write about the many effects that professional interaction has within a working eviroment, from the artist view-point. Through this I will also explain how it is possible to assert yourself as a professional artist, so that this interaction can be made beneficial to the indivudual, both artistically and professional
Genetic Overlap Between Alzheimer's Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes.
Background: Alzheimer's disease (AD) and bipolar disorder (BIP) are complex traits influenced by numerous common genetic variants, most of which remain to be detected. Clinical and epidemiological evidence suggest that AD and BIP are related. However, it is not established if this relation is of genetic origin. Here, we applied statistical methods based on the conditional false discovery rate (FDR) framework to detect genetic overlap between AD and BIP and utilized this overlap to increase the power to identify common genetic variants associated with either or both traits. Methods: We obtained genome wide association studies data from the International Genomics of Alzheimer's Project part 1 (17,008 AD cases and 37,154 controls) and the Psychiatric Genetic Consortium Bipolar Disorder Working Group (20,352 BIP cases and 31,358 controls). We used conditional QQ-plots to assess overlap in common genetic variants between AD and BIP. We exploited the genetic overlap to re-rank test-statistics for AD and BIP and improve detection of genetic variants using the conditional FDR framework. Results: Conditional QQ-plots demonstrated a polygenic overlap between AD and BIP. Using conditional FDR, we identified one novel genomic locus associated with AD, and nine novel loci associated with BIP. Further, we identified two novel loci jointly associated with AD and BIP implicating the MARK2 gene (lead SNP rs10792421, conjunctional FDR = 0.030, same direction of effect) and the VAC14 gene (lead SNP rs11649476, conjunctional FDR = 0.022, opposite direction of effect). Conclusion: We found polygenic overlap between AD and BIP and identified novel loci for each trait and two jointly associated loci. Further studies should examine if the shared loci implicating the MARK2 and VAC14 genes could explain parts of the shared and distinct features of AD and BIP
Measurement of single-diffractive dijet production in proton–proton collisions at √s=8Te with the CMS and TOTEM experiments
Measurements are presented of the single-diffractive dijet cross section and the diffractive cross section as a function of the proton fractional momentum loss ξ and the four-momentum transfer squared t. Both processes pp→pX and pp→Xp, i.e. with the proton scattering to either side of the interaction point, are measured, where X includes at least two jets; the results of the two processes are averaged. The analyses are based on data collected simultaneously with the CMS and TOTEM detectors at the LHC in proton–proton collisions at s=8Te during a dedicated run with β∗=90m at low instantaneous luminosity and correspond to an integrated luminosity of 37.5nb-1. The single-diffractive dijet cross section σjjpX, in the kinematic region ξ&lt; 0.1 , 0.03&lt;|t|&lt;1Ge2, with at least two jets with transverse momentum pT&gt;40Ge, and pseudorapidity | η| &lt; 4.4 , is 21.7±0.9(stat)-3.3+3.0(syst)±0.9(lumi)nb. The ratio of the single-diffractive to inclusive dijet yields, normalised per unit of ξ, is presented as a function of x, the longitudinal momentum fraction of the proton carried by the struck parton. The ratio in the kinematic region defined above, for x values in the range - 2.9 ≤ log 10x≤ - 1.6 , is R=(σjjpX/Δξ)/σjj=0.025±0.001(stat)±0.003(syst), where σjjpX and σjj are the single-diffractive and inclusive dijet cross sections, respectively. The results are compared with predictions from models of diffractive and nondiffractive interactions. Monte Carlo predictions based on the HERA diffractive parton distribution functions agree well with the data when corrected for the effect of soft rescattering between the spectator partons. © 2020, CERN for the benefit of the CMS and TOTEM collaborations