25 research outputs found
Brief of EU Data Protection and Privacy Scholars as Amici Curiae in Support of Respondent:April 17, 2018. Case No. 17-2. United States of America v. Microsoft Corporation
Brief of EU Data Protection and Privacy Scholars as Amici Curiae in Support of Respondent:April 17, 2018. Case No. 17-2. United States of America v. Microsoft Corporation
Evaluation of the efficiency of consolidants on Hungarian porous limestone by non-destructive test methods
DNA methylation-based classification of sinonasal tumors
The diagnosis of sinonasal tumors is challenging due to a heterogeneous spectrum of various differential diagnoses as well as poorly defined, disputed entities such as sinonasal undifferentiated carcinomas (SNUCs). In this study, we apply a machine learning algorithm based on DNA methylation patterns to classify sinonasal tumors with clinical-grade reliability. We further show that sinonasal tumors with SNUC morphology are not as undifferentiated as their current terminology suggests but rather reassigned to four distinct molecular classes defined by epigenetic, mutational and proteomic profiles. This includes two classes with neuroendocrine differentiation, characterized by IDH2 or SMARCA4/ARID1A mutations with an overall favorable clinical course, one class composed of highly aggressive SMARCB1-deficient carcinomas and another class with tumors that represent potentially previously misclassified adenoid cystic carcinomas. Our findings can aid in improving the diagnostic classification of sinonasal tumors and could help to change the current perception of SNUCs
Ethical and legal implications of whole genome and whole exome sequencing in African populations
BACKGROUND: Rapid advances in high throughput genomic technologies and next generation sequencing are
making medical genomic research more readily accessible and affordable, including the sequencing of patient and
control whole genomes and exomes in order to elucidate genetic factors underlying disease. Over the next five
years, the Human Heredity and Health in Africa (H3Africa) Initiative, funded by the Wellcome Trust (United
Kingdom) and the National Institutes of Health (United States of America), will contribute greatly towards
sequencing of numerous African samples for biomedical research.
DISCUSSION: Funding agencies and journals often require submission of genomic data from research participants to
databases that allow open or controlled data access for all investigators. Access to such genotype-phenotype and
pedigree data, however, needs careful control in order to prevent identification of individuals or families. This is
particularly the case in Africa, where many researchers and their patients are inexperienced in the ethical issues
accompanying whole genome and exome research; and where an historical unidirectional flow of samples and
data out of Africa has created a sense of exploitation and distrust. In the current study, we analysed the
implications of the anticipated surge of next generation sequencing data in Africa and the subsequent data sharing
concepts on the protection of privacy of research subjects. We performed a retrospective analysis of the informed
consent process for the continent and the rest-of-the-world and examined relevant legislation, both current and
proposed. We investigated the following issues: (i) informed consent, including guidelines for performing
culturally-sensitive next generation sequencing research in Africa and availability of suitable informed consent
documents; (ii) data security and subject privacy whilst practicing data sharing; (iii) conveying the implications of
such concepts to research participants in resource limited settings.
SUMMARY: We conclude that, in order to meet the unique requirements of performing next generation
sequencing-related research in African populations, novel approaches to the informed consent process are required.
This will help to avoid infringement of privacy of individual subjects as well as to ensure that informed consent
adheres to acceptable data protection levels with regard to use and transfer of such information
Covid-19: Szenarien für Herbst/Winter 2022 – und darüber hinaus
Die vergangenen Monate haben dynamische Entwicklungen der Pandemie verdeutlicht. Als Folge dessen kam es quasi zeitgleich in Österreich im ersten Quartal des Jahres 2022 neben dem Beschluss äußerst restriktiver Vorgaben wie der Impfpflicht auch wieder zur Aufhebung fast aller Schutzmaßnahmen im Zusammenhang mit der COVID-19-Pandemie.
Die letzten beiden Jahre haben gezeigt, wie dynamisch und rasch sich die Situation phasenweise in der Pandemie ändern kann. Jede Phase erfordert – und je länger die Pandemie andauert, umso mehr – verstärkt interdisziplinäre Zugänge und klare Zielsetzungen für Public Health Interventionen. Dies ist einerseits im Sinne einer verständlichen Kommunikation gegenüber der allgemeinen Bevölkerung wichtig, und andererseits im Sinne einer effektiven Bekämpfung der Ausbreitung der Pandemie unbedingt erforderlich
DNA methylation-based classification of sinonasal tumors
The diagnosis of sinonasal tumors is challenging due to a heterogeneous spectrum of various differential diagnoses as well as poorly defined, disputed entities such as sinonasal undifferentiated carcinomas (SNUCs). In this study, we apply a machine learning algorithm based on DNA methylation patterns to classify sinonasal tumors with clinical-grade reliability. We further show that sinonasal tumors with SNUC morphology are not as undifferentiated as their current terminology suggests but rather reassigned to four distinct molecular classes defined by epigenetic, mutational and proteomic profiles. This includes two classes with neuroendocrine differentiation, characterized by IDH2 or SMARCA4/ARID1A mutations with an overall favorable clinical course, one class composed of highly aggressive SMARCB1-deficient carcinomas and another class with tumors that represent potentially previously misclassified adenoid cystic carcinomas. Our findings can aid in improving the diagnostic classification of sinonasal tumors and could help to change the current perception of SNUCs