scholarly journals Human genetics and genomics research in Ecuador: historical survey, current state, and future directions

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Marlon S. Zambrano-Mila ◽  
Spiros N. Agathos ◽  
Juergen K. V. Reichardt
Keyword(s):  
Human Genetics ◽  
Genetic Diseases ◽  
Historical Record ◽  
Genomic Research ◽  
Current Status ◽  
Forensic Sciences ◽  
Resource Limited ◽  
Genomics Research ◽  
Comprehensive Picture ◽  
Genetics And Genomics

Abstract Background In South America, the history of human genetics is extensive and its beginnings go back to the onset of the twentieth century. In Ecuador, the historical record of human genetics and genomics research is limited. In this context, our work analyzes the current status and historical panorama of these fields, based on bibliographic searches in Scopus, Google Scholar, PubMed, and Web of Science. Results Our results determined that the oldest paper in human genetics coauthored by an Ecuadorian institution originates from the Central University of Ecuador in 1978. From a historical standpoint, the number of articles has increased since the 1990s. This growth has intensified and it is reflected in 137 manuscripts recorded from 2010 to 2019. Areas such as human population genetics, phylogeography, and forensic sciences are the core of genetics and genomics-associated research in Ecuador. Important advances have been made in the understanding of the bases of cancer, some genetic diseases, and congenital disorders. Fields such as pharmacogenetics and pharmacogenomics have begun to be explored during the last years. Conclusions This work paints a comprehensive picture and provides additional insights into the future panorama of human genetic and genomic research in Ecuador as an example of an emerging, resource-limited country with interesting phylogeographic characteristics and public health implications.

scholarly journals Strengthening human genetics research in Africa: report of the 9th meeting of the African Society of Human Genetics in Dakar in May 2016

2017 ◽  
Vol 2 ◽  
Author(s):  
R. Ndiaye Diallo ◽  
M. Gadji ◽  
B. J. Hennig ◽  
M. V. Guèye ◽  
A. Gaye ◽  
...  
Keyword(s):  
Human Genetics ◽  
Academic Research ◽  
Genomic Research ◽  
African Continent ◽  
African Society ◽  
African Countries ◽  
Genetics Research ◽  
Human Heredity ◽  
Resource Limited ◽  
The Usa

The 9th meeting of the African Society of Human Genetics, in partnership with the Senegalese Cancer Research and Study Group and the Human Heredity and Health in Africa (H3Africa) Consortium, was held in Dakar, Senegal. The theme was Strengthening Human Genetics Research in Africa. The 210 delegates came from 21 African countries and from France, Switzerland, UK, UAE, Canada and the USA. The goal was to highlight genetic and genomic science across the African continent with the ultimate goal of improving the health of Africans and those across the globe, and to promote the careers of young African scientists in the field. A session on the sustainability of genomic research in Africa brought to light innovative and practical approaches to supporting research in resource-limited settings and the importance of promoting genetics in academic, research funding, governmental and private sectors. This meeting led to the formation of the Senegalese Society for Human Genetics.

scholarly journals An improved pig reference genome sequence to enable pig genetics and genomics research

GigaScience ◽  
2020 ◽  
Vol 9 (6) ◽  
Author(s):  
Amanda Warr ◽  
Nabeel Affara ◽  
Bronwen Aken ◽  
Hamid Beiki ◽  
Derek M Bickhart ◽  
...  
Keyword(s):  
Reference Genome ◽  
Genomic Research ◽  
Biomedical Model ◽  
Model Species ◽  
Domestic Pig ◽  
Genomics Research ◽  
Long Read ◽  
Genetics And Genomics ◽  
Genome Assemblies ◽  
Chromosome Level

Abstract Background The domestic pig (Sus scrofa) is important both as a food source and as a biomedical model given its similarity in size, anatomy, physiology, metabolism, pathology, and pharmacology to humans. The draft reference genome (Sscrofa10.2) of a purebred Duroc female pig established using older clone-based sequencing methods was incomplete, and unresolved redundancies, short-range order and orientation errors, and associated misassembled genes limited its utility. Results We present 2 annotated highly contiguous chromosome-level genome assemblies created with more recent long-read technologies and a whole-genome shotgun strategy, 1 for the same Duroc female (Sscrofa11.1) and 1 for an outbred, composite-breed male (USMARCv1.0). Both assemblies are of substantially higher (>90-fold) continuity and accuracy than Sscrofa10.2. Conclusions These highly contiguous assemblies plus annotation of a further 11 short-read assemblies provide an unprecedented view of the genetic make-up of this important agricultural and biomedical model species. We propose that the improved Duroc assembly (Sscrofa11.1) become the reference genome for genomic research in pigs.

scholarly journals Perspectives and ethical considerations for return of genetics and genomics research results: a qualitative study of genomics researchers in Uganda

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Joseph Ochieng ◽  
Betty Kwagala ◽  
John Barugahare ◽  
Erisa Mwaka ◽  
Deborah Ekusai-Sebatta ◽  
...  
Keyword(s):  
Qualitative Study ◽  
Genomic Research ◽  
Return Of Results ◽  
Ethical Guidelines ◽  
Ethical Considerations ◽  
Research Results ◽  
Regulatory Frameworks ◽  
Genomics Research ◽  
Genetics And Genomics ◽  
Clinically Significant

Abstract Background The return of genetics and genomics research results has been a subject of ongoing global debate. Such feedback is ethically desirable to update participants on research findings particularly those deemed clinically significant. Although there is limited literature, debate continues in African on what constitutes appropriate practice regarding the return of results for genetics and genomics research. This study explored perspectives and ethical considerations of Ugandan genomics researchers regarding the return of genetics and genomics research results. Methods This was a qualitative study that employed in-depth interviews. Thirty participants were purposively selected based on their expertise as genomics researchers in Uganda. Data were analysed through content analysis along the main themes of the study using a comprehensive thematic matrix, to identify common patterns arising from the narratives. NVivo software 12 was used to support data analysis. Results The return of genetics and genomics research results was generally acceptable to researchers, and some indicated that they had previously returned individual or aggregate results to participants and communities. The main reasons cited for sharing research results with participants included their clinical utility, actionability and overall benefit to society. Ethical considerations for appropriate return of results included a need for effective community engagement, genetic counselling prior to disclosure of the results, adequate informed consent, and proper assessment of the implications of, or consequences of returning of results. However, the approaches to return of results were perceived as unstandardized due to the lack of appropriate regulatory frameworks. Conclusions The return of genetic and genomic research results is generally acceptable to researchers despite the lack of appropriate regulatory frameworks. Ethical considerations for return of genetics and genomics research results are highly divergent, hence the need for national ethical guidelines to appropriately regulate the practice.

scholarly journals An improved pig reference genome sequence to enable pig genetics and genomics research

2019 ◽  
Author(s):  
Amanda Warr ◽  
Nabeel Affara ◽  
Bronwen Aken ◽  
H. Beiki ◽  
Derek M. Bickhart ◽  
...  
Keyword(s):  
Reference Genome ◽  
Genomic Research ◽  
Biomedical Model ◽  
Model Species ◽  
Domestic Pig ◽  
Genomics Research ◽  
Long Read ◽  
Genetics And Genomics ◽  
Genome Assemblies ◽  
Chromosome Level

AbstractThe domestic pig (Sus scrofa) is important both as a food source and as a biomedical model with high anatomical and immunological similarity to humans. The draft reference genome (Sscrofa10.2) of a purebred Duroc female pig established using older clone-based sequencing methods was incomplete and unresolved redundancies, short range order and orientation errors and associated misassembled genes limited its utility. We present two annotated highly contiguous chromosome-level genome assemblies created with more recent long read technologies and a whole genome shotgun strategy, one for the same Duroc female (Sscrofa11.1) and one for an outbred, composite breed male (USMARCv1.0). Both assemblies are of substantially higher (>90-fold) continuity and accuracy than Sscrofa10.2. These highly contiguous assemblies plus annotation of a further 11 short read assemblies provide an unprecedented view of the genetic make-up of this important agricultural and biomedical model species. We propose that the improved Duroc assembly (Sscrofa11.1) become the reference genome for genomic research in pigs.

scholarly journals Proteomic and Genomic Studies on Lizard Venoms in the Last Decade

2010 ◽  
Vol 3 ◽  
pp. PRI.S3693 ◽  
Author(s):  
Hang Fai Kwok ◽  
Craig Ivanyi ◽  
Andrew Morris ◽  
Chris Shaw
Keyword(s):  
Natural Resources ◽  
Potential Benefit ◽  
Current Knowledge ◽  
The State ◽  
Bioactive Molecules ◽  
Genomic Research ◽  
Active Compounds ◽  
Current Review ◽  
Comprehensive Picture ◽  
Genomic Studies

Traditionally man has looked to nature to provide cures for diseases. This approach still exists today in the form of ‘bio-prospecting’ for therapeutically-active compounds in venoms. For example, the venoms of many reptiles offer a spectacular laboratory of bioactive molecules, including peptides and proteins. In the last 10–15 years, there have been a number of major proteomic and genomic research breakthroughs on lizard venoms. In this current review, the key findings from these proteomic and genomic studies will be critically discussed and suggestions will be offered for future focused investigations. It is our intention that this article will not only provide a comprehensive picture of the state of current knowledge of the components of lizard venoms, but also engender awareness in readers of the need to protect and conserve such uniquely precious natural resources for several reasons, including the potential benefit of humankind.

PHENYLKETONURIA, AND GUTHRIE INHIBITION ASSAY SCREENING PROCEDURE

PEDIATRICS ◽  
1963 ◽  
Vol 32 (3) ◽  
pp. 344-346
Keyword(s):  
Public Health ◽  
Large Scale ◽  
Human Genetics ◽  
Screening Program ◽  
Genetic Diseases ◽  
State Department ◽  
The State ◽  
Detection Methods ◽  
Inhibition Assay ◽  
Pilot Studies

Recommendations were made in view of the following facts: (1) the need for further information on the mechanisms involved in the phenotypic expressions of phenylketonuria; (2) the present lack of adequate data on the effectiveness of the Guthrie Inhibition Assay, in terms of number of cases which may be missed, factors making for positive determinations and providing other information on which to evaluate the appropriateness of the large-scale screening program proposed; (3) the undesirability of deploying inordinate resources in the evaluation of the Guthrie Inhibition Assay to the detriment of the needs of other areas of child health including phenylketonuria; (4) the indications that a multi-faceted approach to phenylketonuria would be productive, not only in resolving the problems involving this disorder but also as a model for the investigation of and application to the treatment of other genetic diseases; (5) the possibility that the Guthrie Inhibition Assay could be a useful tool in the early detection, treatment and investigation of phenylketonuria; and (6) the fact that other state health departments are participating in the Guthrie Field Trials, indicating that the California State Department of Public Health should apply its resources to a more intensive study of PKU and detection methods. The consultants made the following recommendations, through resolution, to the California State Department of Public Health. It was resolved that: 1. The State of California not be responsible at this time for initiating or recommending that the Guthrie procedure be accomplished on a state-wide basis in all newborn nurseries (one dissent). 2. The State of California initiate and coordinate the development of pilot studies in selected hospitals and medical centers throughout the State in the investigation of phenylketonuria, utilizing the Guthrie Inhibition Assay or other tests. 3. A scientific committee be appointed immediately as an advisory committee to the State Department of Public Health to develop recommendations for carrying out the suggested investigations. 4. A registry for phenylketonuria and other diseases (as listed in the recommendations by the Subcommittee on Human Genetics) be established within the framework of the State organization.

scholarly journals The Report of Marine Life Genomic Research

2018 ◽  
Author(s):  
Guangyi Fan ◽  
Jianwei Chen ◽  
Tao Jin ◽  
Chengcheng Shi ◽  
Xiao Du ◽  
...  
Keyword(s):  
Recent Progress ◽  
Ethical Issues ◽  
Marine Invertebrates ◽  
Marine Species ◽  
White Paper ◽  
Genomic Research ◽  
Research Progress ◽  
Biological Research ◽  
Marine Microorganisms ◽  
Genomics Research

With the continuing development of sequencing technology, genomics has been applied in a variety of biological research areas. In particular, the application of genomics to marine species, which boast a high diversity, promises great scientific and industrial potential. Significant progress has been made in marine genomics especially over the past few years. Consequently, BGI, leveraging its prominent contributions in genomics research, established BGI-Qingdao, an institute specifically aimed at exploring marine genomics. In order to accelerate marine genomics research and related applications, BGI-Qingdao initiated the International Conference on Genomics of the Ocean (ICG-Ocean) to develop international collaborations and establish a focused and coherent global research plan. Last year, the first ICG-Ocean conference was held in Qingdao, China, during which 47 scientists in marine genomics from all over the world reported on their research progress to an audience of about 300 attendees. This year, we would like to build on that success, drafting a report on marine genomics to draw global attention to marine genomics. We summarized the recent progress, proposed future directions, and we would like to enable additional profound insights on marine genomics. Similar to the annual report on plant and fungal research by Kew Gardens, and the White Paper of ethical issues on experimental animals, we hope our first report on marine genomics can provide some useful insights for researchers, funding agencies as well as industry, and that future versions will expand upon the foundation established here in both breadth and depth of knowledge.This report summarizes the recent progress in marine genomics in six parts including: marine microorganisms, marine fungi, marine algae and plants, marine invertebrates, marine vertebrates and genomics-based applications.

Genomics and bioinformatics capacity in Africa: no continent is left behind

Genome ◽  
2021 ◽  
pp. 1-11
Author(s):  
Gerald Mboowa ◽  
Ivan Sserwadda ◽  
Dickson Aruhomukama
Keyword(s):  
Research Capacity ◽  
The United States ◽  
National Institutes Of Health ◽  
Current Status ◽  
Research Approach ◽  
Left Behind ◽  
Research Organizations ◽  
Genomics Research ◽  
African Populations ◽  
Challenges And Opportunities

Despite the poor genomics research capacity in Africa, efforts have been made to empower African scientists to get involved in genomics research, particularly that involving African populations. As part of the Human Heredity and Health in Africa (H3Africa) Consortium, an initiative was set to make genomics research in Africa an African endeavor and was developed through funding from the United States’ National Institutes of Health Common Fund and the Wellcome Trust. H3Africa is intended to encourage a contemporary research approach by African investigators and to stimulate the study of genomic and environmental determinants of common diseases. The goal of these endeavors is to improve the health of African populations. To build capacity for bioinformatics and genomics research, organizations such as the African Society for Bioinformatics and Computational Biology have been established. In this article, we discuss the current status of the bioinformatics infrastructure in Africa as well as the training challenges and opportunities.

The Role of Private Labels in the Organic Food Market

2019 ◽  
pp. 347-375
Author(s):  
Miguel Llorens ◽  
Sonia Carcelén
Keyword(s):  
Organic Food ◽  
Product Category ◽  
Food Product ◽  
Distribution Channels ◽  
Current Status ◽  
Store Brand ◽  
Developed Economies ◽  
Comprehensive Picture ◽  
Food Market

The organic food market has become one of the most rapidly growing sectors in developed economies around the world in the last decade, but it has not grown at the same pace in all the countries. The review of literature clearly indicates that the main motivations of the Spanish consumer to buy organic food are Health, Taste and Quality; also reveals that the main barriers are related to Price and Availability. The organic Store Brand appears as an opportunity for retailers to overcome those barriers, the price gap and the lack of availability. This study investigates the role of Store Brands in the development of the organic food product category. The authors provide a comprehensive picture of the current status in the Spanish distribution channels and review some PL strategies for the retailers to develop the category in different marketing areas such as branding, labelling, pricing, merchandising and promotion.

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