Search results for "Research initiative"
showing 10 items of 12 documents
CRISPR-Cas9 screen reveals a MYCN-amplified neuroblastoma dependency on EZH2.
2018
Pharmacologically difficult targets, such as MYC transcription factors, represent a major challenge in cancer therapy. For the childhood cancer neuroblastoma, amplification of the oncogene MYCN is associated with high-risk disease and poor prognosis. Here, we deployed genome-scale CRISPR-Cas9 screening of MYCN-amplified neuroblastoma and found a preferential dependency on genes encoding the polycomb repressive complex 2 (PRC2) components EZH2, EED, and SUZ12. Genetic and pharmacological suppression of EZH2 inhibited neuroblastoma growth in vitro and in vivo. Moreover, compared with neuroblastomas without MYCN amplification, MYCN-amplified neuroblastomas expressed higher levels of EZH2. ChIP…
The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation.
2014
The Ewing sarcoma family of tumors (EFT) is a group of highly malignant small round blue cell tumors occurring in children and young adults. We report here the largest genomic survey to date of 101 EFT (65 tumors and 36 cell lines). Using a combination of whole genome sequencing and targeted sequencing approaches, we discover that EFT has a very low mutational burden (0.15 mutations/Mb) but frequent deleterious mutations in the cohesin complex subunit STAG2 (21.5% tumors, 44.4% cell lines), homozygous deletion of CDKN2A (13.8% and 50%) and mutations of TP53 (6.2% and 71.9%). We additionally note an increased prevalence of the BRCA2 K3326X polymorphism in EFT patient samples (7.3%) compared …
Diagnosis of Tinnitus: Neurological Examination
2011
1. There is an urgent need for a set of assessment methods to be agreed upon and utilized by the international tinnitus research community. 2. Neurological examination of tinnitus patients is essential to achieve a good diagnostic approach to the different forms of objective and subjective tinnitus. 3. This chapter summarizes the neurological examination in tinnitus, including the protocol used in the authors’ tinnitus clinic, which is based on the consensus of the Tinnitus Research Initiative (TRI).
Development and validation of the neighborhood environment walkability scale for youth across six continents
2019
Abstract Background The IPEN International Physical Activity and Environment Network Adolescent project was conducted using common study protocols to document the strength, shape, and generalizability of associations of perceived neighborhood environment attributes with adolescents’ physical activity and overweight/obesity using data from 15 countries. Countries did not use identical versions of the Neighborhood Environment Walkability Scale for Youth (NEWS-Y) to measure perceived neighborhood environment attributes. Therefore, this study derived a measurement model for NEWS-Y items common to all IPEN Adolescent countries and developed a scoring protocol for the IPEN Adolescent version of t…
Prevalence and risk factors for Enterobacteriaceae in patients hospitalized with community-acquired pneumonia
2020
N.J.S. is partially funded by the Department of Veterans Affairs, Quality Enhancement Research Initiative (QUERI) Partnered Evaluation Initiative Grant (HX002263-01A1). Background and objective : Enterobacteriaceae (EB) spp. family is known to include potentially multidrug-resistant (MDR) microorganisms, and remains as an important cause of community-acquired pneumonia (CAP) associated with high mortality. The aim of this study was to determine the prevalence and specific risk factors associated with EB and MDR-EB in a cohort of hospitalized adults with CAP. Methods : We performed a multinational, point-prevalence study of adult patients hospitalized with CAP. MDR-EB was defined when ≥3 ant…
International Physical Activity and Built Environment Study of Adolescents : IPEN Adolescent design, protocol and measures
2021
IntroductionOnly international studies can provide the full variability of built environments and accurately estimate effect sizes of relations between contrasting environments and health-related outcomes. The aims of the International Physical Activity and Environment Study of Adolescents (IPEN Adolescent) are to estimate the strength, shape and generalisability of associations of the community environment (geographic information systems (GIS)-based and self-reported) with physical activity and sedentary behaviour (accelerometer-measured and self-reported) and weight status (normal/overweight/obese).Methods and analysisThe IPEN Adolescent observational, cross-sectional, multicountry study …
Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes
2014
Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions o…
Consensus for tinnitus patient assessment and treatment outcome measurement
2007
There is widespread recognition that consistency between research centres in the ways that patients with tinnitus are assessed and outcomes following interventions are measured would facilitate more effective co-operation and more meaningful evaluations and comparisons of outcomes. At the first Tinnitus Research Initiative meeting held in Regensburg in July 2006 an attempt was made through workshops to gain a consensus both for patient assessments and for outcome measurements. It is hoped that this will contribute towards better cooperation between research centres in finding and evaluating treatments for tinnitus by allowing better comparability between studies.
Finnish National Guidelines for Open Science
2016
Presentation in Introduction to Open Science seminar, Jyväskylä, 14.11.2016.
The Roadmap to Finnish Open Science and Research
2015
Finland published its open science roadmap at the end of November 2014. This roadmap is based on the work of the Open Science and Research Initiative (ATT), a cross-administrative initiative established by the Ministry of Education and Culture. The goal of this initiative is to promote open science and availability of information. Exploration of recent developments of open access in the EU shows that Finland is not among the leading countries in the EU. This paper focuses on the practical action plan of this roadmap and describes how the weakest part of Finnish open science, green open access is to be lifted at international top level.