The Experts below are selected from a list of 47259 Experts worldwide ranked by ideXlab platform
Jantina De Vries - One of the best experts on this subject based on the ideXlab platform.
-
the role of causal knowledge in stigma considerations in african Genomics Research views of south african xhosa people
Social Science & Medicine, 2021Co-Authors: Olivia P Matshabane, Paul S. Appelbaum, Megan M Campbell, Marlyn C Faure, Patricia A Marshall, Dan J Stein, Jantina De VriesAbstract:Abstract Introduction: Advances in Genomics Research have raised several ethical concerns. One concern is the potential impact of Genomics Research on stigma experienced by people affected by a disease. Studies have found that the type of illness as well as disease causal beliefs impact on the relation between genetic attribution and stigma. This study explored the potential impact of genetic attribution of disease on stigma among Xhosa people with Rheumatic Heart Disease (RHD). Methods: Study participants were 46 Xhosa people with RHD living in the Western Cape Province of South Africa. Using video vignettes in 7 focus group discussions we explored whether and how genetic attribution may impact on disease-stigma. Vignettes introduced participants to non-genetic and genetic causal explanations and were followed-up with a series of open-ended questions eliciting their perceptions of non-genetic disease causes as well as genetic causation and its impact on internalised stigma. Results: This study found that Xhosa people with RHD have a general understanding of genetics and genetic attribution for disease. Additionally, and not withstanding their genetic knowledge, these participants hold multiple disease causal beliefs including genetic, infectious disease, psychosocial, behavioural and cultural explanations. While there was evidence of internalised stigma experiences among participants, these appeared not to be related to a genetic attribution to the disease. Discussion: The findings of this study provide clues as to why it is unlikely that a genetic conceptualisation of disease impacts internalised stigma experiences of Xhosa people. The causal explanations provided by participants reflect their cultural understandings and their context, namely, living in low-income and poverty-stricken environments. Divergence in these findings from much of the evidence from high-income countries emphasises that context matters when considering the impact of genetic attribution on stigma and caution against generalising findings from one part of the globe to another.
-
Evaluating Community Engagement Strategies to Manage Stigma in Two African Genomics Studies Involving People Living with Schizophrenia or Rheumatic Heart Disease
'Hindawi Limited', 2021Co-Authors: Megan M Campbell, Olivia P Matshabane, Dan J Stein, Sibonile Mqulwana, Michael Mndini, Mohamed Nagdee, Jantina De VriesAbstract:In global health Research and Genomics Research specifically, community engagement has gained prominence in enhancing ethical conduct, particularly in managing the risk of stigmatization, but there is minimal scientific evidence on how to do this effectively. This article reports on community engagement evaluation strategies in two African Genomics studies: the Stigma in African Genomics Research study and the Genomics of Schizophrenia in South African Xhosa People (SAX) study. Within the Stigma in African Genomics Research study, a self-report rating scale and open-ended questions were used to track participant responses to an experiential theatre workshop. The workshop focused on participant experiences of living with schizophrenia or rheumatic heart disease (RHD). While the schizophrenia group reported more alienation and less stigma resistance than the RHD group, both groups demonstrated increased stigma resistance over time, after participating in the workshops. Hearing from others living with and managing the same illness normalised participants’ own experiences and encouraged them. Within the SAX study, a short rating scale and qualitative feedback methods were used to evaluate a Mental Health Literacy Day targeting mental health stigma. Information talks about (i) the symptoms of schizophrenia and treatment options and (ii) the illness experiences of a patient in recovery were rated as the most helpful on the day. Audience members reported that these talks challenged negative perceptions about severe mental illness. Three important learnings emerged from these evaluations: firstly, integration of evaluation strategies at the Research study planning phase is likely to promote more effective community engagement. Secondly, a combination of quantitative and qualitative methods that draw on simple descriptive statistics and thematic analysis can provide nuanced perspectives about the value of community engagement. Thirdly, such evidence is necessary in establishing and promoting the science of community engagement in Genomics Research and health Research more broadly
-
Policy makers, regulators and Researchers’ perspectives on Genomics Research and the capacity of the National Health Research Act of 2013 to regulate Genomics Research in Zambia
AAS Open Research, 2020Co-Authors: Oliver Mweemba, Paulina Tindana, John Musuku, Tulani Francis L. Matenga, Michael W. Parker, Rwamahe Rutakumwa, Janet Seeley, Twambo Simanga, Jantina De VriesAbstract:Background: Health Research in sub-Saharan Africa takes place against a lengthy history of exploitation and unfair collaboration. This has involved the export of samples and data from the continent for the benefit of institutions and Researchers elsewhere. In this paper, we report the perspectives of people involved in conducting Genomics Research in Zambia and the capacity of the Health Research Act (HRA) of 2013 in regulating Genomics Research. Methods : We approached 14 purposively selected stakeholders involved in the development or implementation of the HRA in Zambia for in-depth interviews. These were members of Research ethics committees, Genomics Researchers, Ministry of Health policy makers and institutional lawyers. Results : Participants reported that there are benefits in Genomics Research for Zambia such as diagnosing and treatment of diseases. Participants also expressed concerns, most of which were ethical in nature. Prominent concerns were on consent. Participants’ main concern was the possible misuse of samples in the future. These concerns resonated with the HRA, which prohibits the use of broad consent for the collection of samples and data for future unspecified Research. The implications of this is that Zambians may not participate in any kind of health Research for which the storage, sharing and re-use of data or samples is envisaged. The restrictive nature of HRA means that Genomics Research may be excluded from future health Research collaborations, thus isolating the country from potentially beneficial health Research. Some policy makers also worried the samples and data that comes from such Research may be difficult to access by local scientists. Conclusion : In this article, we describe the views of Zambian policymakers on Genomics Research and the capacity of HRA in regulating Genomics Research. Our findings are relevant for the Zambian audience, and other African countries that are aiming to regulate health Research, especially Genomics Research.
-
stigma in african Genomics Research gendered blame polygamy ancestry and disease causal beliefs impact on the risk of harm
Social Science & Medicine, 2020Co-Authors: Jantina De Vries, Guida Landouré, Ambroise WonkamAbstract:Abstract A recurring concern in Genomics Research is the possibility that it could lead to stigma for participants, their families and the population groups they belong to. Little evidence exists to explain how and when this ought to be a concern in Genomics Research in Africa whilst there is growing international evidence drawing into question the direct link between stigma and genetics. In this paper, we interrogate practical instances from African Genomics Research where stigma was identified as a concern in an attempt to nuance and refine accounts of when stigma should be considered as an ethical issue. The paper describes examples involving gendered blame, polygamy, beliefs in supernatural disease causation and sensitive information about group lineage. We propose that the concern may not be about stigma so much as broader Research-related harm, including for instance reputational harm to population groups. Furthermore, we propose to shift the analytical gaze from establishing causal relationships to exploring the intersection of Genomics with pre-existing stigma. Finally, we emphasize the importance of ensuring Genomics Researchers are culturally competent, meaning able to recognise when cultural factors impact on the possibility that Genomics Research could cause harm.
-
use of broad consent and related procedures in Genomics Research perspectives from Research participants in the genetics of rheumatic heart disease rhdgen study in a university teaching hospital in zambia
Global bioethics, 2020Co-Authors: Oliver Mweemba, Paulina Tindana, Bongani M Mayosi, John Musuku, Rwamahe Rutakumwa, Janet Seeley, Michael Parker, Jantina De VriesAbstract:The use of broad consent for Genomics Research raises important ethical questions for the conduct of Genomics Research, including relating to its acceptability to Research participants and comprehe...
Xiaohan Yang - One of the best experts on this subject based on the ideXlab platform.
-
crispr cas9 mediated targeted mutagenesis for functional Genomics Research of crassulacean acid metabolism plants
Journal of Experimental Botany, 2019Co-Authors: Degao Liu, Gerald A Tuskan, Mei Chen, Brian J Mendoza, Hua Cheng, Cong T Trinh, Xiaohan YangAbstract:Crassulacean acid metabolism (CAM) is an important photosynthetic pathway in diverse lineages of plants featuring high water-use efficiency and drought tolerance. A big challenge facing the CAM Research community is to understand the function of the annotated genes in CAM plant genomes. Recently, a new genome editing technology using CRISPR/Cas9 has become a more precise and powerful tool than traditional approaches for functional Genomics Research in C3 and C4 plants. In this study, we explore the potential of CRISPR/Cas9 to characterize the function of CAM-related genes in the model CAM species Kalanchoe fedtschenkoi. We demonstrate that CRISPR/Cas9 is effective in creating biallelic indel mutagenesis to reveal previously unknown roles of blue light receptor phototropin 2 (KfePHOT2) in the CAM pathway. Knocking out KfePHOT2 reduced stomatal conductance and CO2 fixation in late afternoon and increased stomatal conductance and CO2 fixation during the night, indicating that blue light signaling plays an important role in the CAM pathway. Lastly, we provide a genome-wide guide RNA database targeting 45 183 protein-coding transcripts annotated in the K. fedtschenkoi genome.
-
advances and perspectives on the use of crispr cas9 systems in plant Genomics Research
Current Opinion in Plant Biology, 2016Co-Authors: Degao Liu, Gerald A Tuskan, Kaitlin J Palla, Xiaohan YangAbstract:Genome editing with site-specific nucleases has become a powerful tool for functional characterization of plant genes and genetic improvement of agricultural crops. Among the various site-specific nuclease-based technologies available for genome editing, the clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated protein 9 (Cas9) systems have shown the greatest potential for rapid and efficient editing of genomes in plant species. This article reviews the current status of application of CRISPR/Cas9 to plant Genomics Research, with a focus on loss-of-function and gain-of-function analysis of individual genes in the context of perennial plants and the potential application of CRISPR/Cas9 to perturbation of gene expression, and identification and analysis of gene modules as part of an accelerated domestication and synthetic biology effort.
Rajeev K Varshney - One of the best experts on this subject based on the ideXlab platform.
-
current state of art of sequencing technologies for plant Genomics Research
Briefings in Functional Genomics, 2012Co-Authors: Mahendar Thudi, Scott A Jackson, Gregory D May, Rajeev K VarshneyAbstract:A number of next-generation sequencing (NGS) technologies such as Roche/454, Illumina and AB SOLiD have recently become available. These technologies are capable of generating hundreds of thousands or tens of millions of short DNA sequence reads at a relatively low cost. These NGS technologies, now referred as second-generation sequencing (SGS) technologies, are being utilized for de novo sequencing, genome re-sequencing, and whole genome and transcriptome analysis. Now, new generation of sequencers, based on the 'next-next' or third-generation sequencing (TGS) technologies like the Single-Molecule Real-Time (SMRT™) Sequencer, Heliscope™ Single Molecule Sequencer, and the Ion Personal Genome Machine™ are becoming available that are capable of generating longer sequence reads in a shorter time and at even lower costs per instrument run. Ever declining sequencing costs and increased data output and sample throughput for NGS and TGS sequencing technologies enable the plant Genomics and breeding community to undertake genotyping-by-sequencing (GBS). Data analysis, storage and management of large-scale second or TGS projects, however, are essential. This article provides an overview of different sequencing technologies with an emphasis on forthcoming TGS technologies and bioinformatics tools required for the latest evolution of DNA sequencing platforms.
-
application of Genomics to molecular breeding of wheat and barley
Advances in Genetics, 2007Co-Authors: Rajeev K Varshney, Peter Langridge, Andreas GranerAbstract:Abstract In wheat and barley, several generations of selectable molecular markers have been included in the genetic maps; and a large number of qualitative and quantitative traits were located in the genomes, some of which are being routinely selected in marker‐assisted breeding programs. In recent years, a large number of expressed sequence tags (ESTs) have been generated for wheat and barley that have been used for development of functional molecular markers, preparation of transcript maps, and construction of cDNA arrays. These functional genomic resources combined together with new approaches such as expression genetics, association mapping, allele mining, and informatics (bioinformatic tools) possess potential to identify genes responsible for a trait and their deployment in practical plant breeding. High costs currently limit the implementation of functional Genomics in breeding programs. The potential applications together with some examples as well as challenges for applying Genomics Research in breeding activities are discussed. Genomics Research will continue to enhance the efficiency and precision for crop improvement but will not replace conventional breeding and evaluation methods.
Leslie G. Biesecker - One of the best experts on this subject based on the ideXlab platform.
-
approaches to informed consent for hypothesis testing and hypothesis generating clinical Genomics Research
BMC Medical Genomics, 2012Co-Authors: Flavia M Facio, Julie C Sapp, Amy Linn, Leslie G. BieseckerAbstract:Massively-parallel sequencing (MPS) technologies create challenges for informed consent of Research participants given the enormous scale of the data and the wide range of potential results. We propose that the consent process in these studies be based on whether they use MPS to test a hypothesis or to generate hypotheses. To demonstrate the differences in these approaches to informed consent, we describe the consent processes for two MPS studies. The purpose of our hypothesis-testing study is to elucidate the etiology of rare phenotypes using MPS. The purpose of our hypothesis-generating study is to test the feasibility of using MPS to generate clinical hypotheses, and to approach the return of results as an experimental manipulation. Issues to consider in both designs include: volume and nature of the potential results, primary versus secondary results, return of individual results, duty to warn, length of interaction, target population, and privacy and confidentiality. The categorization of MPS studies as hypothesis-testing versus hypothesis-generating can help to clarify the issue of so-called incidental or secondary results for the consent process, and aid the communication of the Research goals to study participants.
-
Hypothesis-generating clinical Genomics Research and predictive medicine
BMC Proceedings, 2012Co-Authors: Leslie G. BieseckerAbstract:The advent of affordable genome and exome sequencing provides incredible opportunities and poses significant challenges for clinical Research and clinical care. For the first time, it is technically feasible to access the entire genetic architecture of a phenotype. The dissection of this genetic architecture of disease will yield unprecedented insights into molecular pathophysiology and provide numerous therapeutic targets. Soon, the primary etiology of all Mendelian traits will be elucidated and modifiers will follow. Translating this genetic architecture into diagnostics and therapeutics will be feasible and will require creative, aggressive and thoughtful approaches to numerous challenges. One of the first applications will be predictive medicine, which should initially focus on high-penetrance Mendelian phenocopies of common diseases and disorders with effective interventions. These include cancer susceptibility syndromes, cardiomyopathies and dysrhythmias, malignant hyperthermia, dyslipidemias, and a host of other disorders. These approaches will require improved abilities to predict phenotype from genotype and a clinical paradigm shift that supports a disease screening approach (as distinct from a differential diagnosis approach). As well, Researcher and clinicians will need to develop creative approaches to dealing with data overload - no physician (Research or clinical) can address three million variations. Prioritizing these variants into clinically appropriate categories is urgent, as is developing an unbiased assessment of penetrance in variable expressivity. I will give examples of several of these approaches and their attendant challenges from the ClinSeq project in the intramural NIH.
-
Motivators for participation in a whole-genome sequencing study: implications for translational Genomics Research
European Journal of Human Genetics, 2011Co-Authors: Flavia M Facio, Leslie G. Biesecker, Stephanie Brooks, Johanna Loewenstein, Susannah Green, Barbara B BieseckerAbstract:The promise of personalized medicine depends on the ability to integrate genetic sequencing information into disease risk assessment for individuals. As genomic sequencing technology enters the realm of clinical care, its scale necessitates answers to key social and behavioral Research questions about the complexities of understanding, communicating, and ultimately using sequence information to improve health. Our study captured the motivations and expectations of Research participants who consented to participate in a Research protocol, ClinSeq, which offers to return a subset of the data generated through high-throughput sequencing. We present findings from an exploratory study of 322 participants, most of whom identified themselves as white, non-Hispanic, and coming from higher socio-economic groups. Participants aged 45–65 years answered open-ended questions about the reasons they consented to ClinSeq and about what they anticipated would come of genomic sequencing. Two main reasons for participating were as follows: a conviction to altruism in promoting Research, and a desire to learn more about genetic factors that contribute to one's own health risk. Overall, participants expected genomic Research to help improve understanding of disease causes and treatments. Our findings offer a first glimpse into the motivations and expectations of individuals seeking their own genomic information, and provide initial insights into the value these early adopters of technology place on information generated by high-throughput sequencing studies.
Degao Liu - One of the best experts on this subject based on the ideXlab platform.
-
crispr cas9 mediated targeted mutagenesis for functional Genomics Research of crassulacean acid metabolism plants
Journal of Experimental Botany, 2019Co-Authors: Degao Liu, Gerald A Tuskan, Mei Chen, Brian J Mendoza, Hua Cheng, Cong T Trinh, Xiaohan YangAbstract:Crassulacean acid metabolism (CAM) is an important photosynthetic pathway in diverse lineages of plants featuring high water-use efficiency and drought tolerance. A big challenge facing the CAM Research community is to understand the function of the annotated genes in CAM plant genomes. Recently, a new genome editing technology using CRISPR/Cas9 has become a more precise and powerful tool than traditional approaches for functional Genomics Research in C3 and C4 plants. In this study, we explore the potential of CRISPR/Cas9 to characterize the function of CAM-related genes in the model CAM species Kalanchoe fedtschenkoi. We demonstrate that CRISPR/Cas9 is effective in creating biallelic indel mutagenesis to reveal previously unknown roles of blue light receptor phototropin 2 (KfePHOT2) in the CAM pathway. Knocking out KfePHOT2 reduced stomatal conductance and CO2 fixation in late afternoon and increased stomatal conductance and CO2 fixation during the night, indicating that blue light signaling plays an important role in the CAM pathway. Lastly, we provide a genome-wide guide RNA database targeting 45 183 protein-coding transcripts annotated in the K. fedtschenkoi genome.
-
advances and perspectives on the use of crispr cas9 systems in plant Genomics Research
Current Opinion in Plant Biology, 2016Co-Authors: Degao Liu, Gerald A Tuskan, Kaitlin J Palla, Xiaohan YangAbstract:Genome editing with site-specific nucleases has become a powerful tool for functional characterization of plant genes and genetic improvement of agricultural crops. Among the various site-specific nuclease-based technologies available for genome editing, the clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated protein 9 (Cas9) systems have shown the greatest potential for rapid and efficient editing of genomes in plant species. This article reviews the current status of application of CRISPR/Cas9 to plant Genomics Research, with a focus on loss-of-function and gain-of-function analysis of individual genes in the context of perennial plants and the potential application of CRISPR/Cas9 to perturbation of gene expression, and identification and analysis of gene modules as part of an accelerated domestication and synthetic biology effort.