LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 18

Search options

  1. Article ; Online: The dawn of a cure for sickle cell disease through CRISPR-based treatment: A critical test of equity in public health genomics.

    Mboowa, Gerald / Sserwadda, Ivan / Kanyerezi, Stephen / Tukwasibwe, Stephen / Kidenya, Benson

    Annals of human genetics

    2024  

    Abstract: Equity in access to genomic technologies, resources, and products remains a great challenge. This was evident especially during the coronavirus disease 2019 (COVID-19) pandemic when the majority of lower middle-income countries were unable to achieve at ... ...

    Abstract Equity in access to genomic technologies, resources, and products remains a great challenge. This was evident especially during the coronavirus disease 2019 (COVID-19) pandemic when the majority of lower middle-income countries were unable to achieve at least 10% population vaccination coverage during initial COVID-19 vaccine rollouts, despite the rapid development of those vaccines. Sickle cell disease (SCD) is an inherited monogenic red blood cell disorder that affects hemoglobin, the protein that carries oxygen through the body. Globally, the African continent carries the highest burden of SCD with at least 240,000 children born each year with the disease. SCD has evolved from a treatable to a curable disease. Recently, the UK medical regulator approved its cure through clustered regularly interspaced short palindromic repeat (CRISPR)-based treatment, whereas the US Food and Drug Administration has equally approved two SCD gene therapies. This presents a remarkable opportunity to demonstrate equity in public health genomics. This CRISPR-based treatment is expensive and therefore, a need for an ambitious action to ensure that they are affordable and accessible where they are needed most and stand to save millions of lives.
    Language English
    Publishing date 2024-03-22
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 333-5
    ISSN 1469-1809 ; 0003-4800
    ISSN (online) 1469-1809
    ISSN 0003-4800
    DOI 10.1111/ahg.12558
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  2. Article ; Online: rMAP: the Rapid Microbial Analysis Pipeline for ESKAPE bacterial group whole-genome sequence data.

    Sserwadda, Ivan / Mboowa, Gerald

    Microbial genomics

    2021  Volume 7, Issue 6

    Abstract: The recent re-emergence of multidrug-resistant pathogens has exacerbated their threat to worldwide public health. The evolution of the genomics era has led to the generation of huge volumes of sequencing data at an unprecedented rate due to the ever- ... ...

    Abstract The recent re-emergence of multidrug-resistant pathogens has exacerbated their threat to worldwide public health. The evolution of the genomics era has led to the generation of huge volumes of sequencing data at an unprecedented rate due to the ever-reducing costs of whole-genome sequencing (WGS). We have developed the Rapid Microbial Analysis Pipeline (rMAP), a user-friendly pipeline capable of profiling the resistomes of ESKAPE pathogens (
    MeSH term(s) Acinetobacter baumannii/genetics ; Animals ; Anti-Bacterial Agents/pharmacology ; Drug Resistance, Multiple, Bacterial/genetics ; Enterobacter/genetics ; Enterococcus faecium/genetics ; Genome, Bacterial ; Genomics ; Humans ; Klebsiella pneumoniae/genetics ; Multilocus Sequence Typing ; Phylogeny ; Plasmids ; Staphylococcus aureus/genetics ; Whole Genome Sequencing/methods
    Chemical Substances Anti-Bacterial Agents
    Language English
    Publishing date 2021-06-10
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2835258-0
    ISSN 2057-5858 ; 2057-5858
    ISSN (online) 2057-5858
    ISSN 2057-5858
    DOI 10.1099/mgen.0.000583
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

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

    Mboowa, Gerald / Sserwadda, Ivan / Aruhomukama, Dickson

    Genome. 2021, v. 64, no. 5

    2021  

    Abstract: 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 ( ... ...

    Abstract 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.
    Keywords bioinformatics ; genome ; genomics ; humans ; infrastructure ; inheritance (genetics) ; Africa
    Language English
    Size p. 503-513.
    Publishing place NRC Research Press
    Document type Article
    Note NAL-AP-2-clean
    ZDB-ID 639031-6
    ISSN 1480-3321 ; 0831-2796
    ISSN (online) 1480-3321
    ISSN 0831-2796
    DOI 10.1139/gen-2020-0013
    Database NAL-Catalogue (AGRICOLA)

    More links

    Kategorien

  4. Article ; Online: Genomics and bioinformatics capacity in Africa: no continent is left behind.

    Mboowa, Gerald / Sserwadda, Ivan / Aruhomukama, Dickson

    Genome

    2021  Volume 64, Issue 5, Page(s) 503–513

    Abstract: 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 ( ... ...

    Abstract 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.
    MeSH term(s) Africa ; Computational Biology ; Education ; Education, Distance ; Genome ; Genomics/education ; Humans ; Internet ; Research ; Uganda ; Whole Genome Sequencing
    Language English
    Publishing date 2021-01-12
    Publishing country Canada
    Document type Journal Article
    ZDB-ID 639031-6
    ISSN 1480-3321 ; 0831-2796
    ISSN (online) 1480-3321
    ISSN 0831-2796
    DOI 10.1139/gen-2020-0013
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  5. Article ; Online: Role of genomics literacy in reducing the burden of common genetic diseases in Africa.

    Mboowa, Gerald / Sserwadda, Ivan

    Molecular genetics & genomic medicine

    2019  Volume 7, Issue 7, Page(s) e00776

    Abstract: Background: In Africa, health practitioners and the current knowledge of the public on genetics and genomics is still very low and yet this has potential to reduce the burden of common genetic diseases. Many initiatives have promoted genomic research, ... ...

    Abstract Background: In Africa, health practitioners and the current knowledge of the public on genetics and genomics is still very low and yet this has potential to reduce the burden of common genetic diseases. Many initiatives have promoted genomic research, infrastructure, and capacity building in Africa. What remains to be done is to improve genomics literacy among populations and communities while utilizing an array of strategies. Genomic literacy and awareness are key in the management of genetic diseases which includes diagnosis, prevention of complications and therapy. Africa is characterized by great cultural and language diversity thereby requiring a multidisciplinary approach to improving public and community genomics literacy and engagement. However, this is further complicated by having the fact that sub-Saharan Africa is comprised of countries with the lowest literacy rates in the world.
    Methods: We applied the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines to review genomic literacy in Africa using PubMed database.
    Results: We found very limited evidence of genomics literacy for genetic diseases in Africa.
    Conclusion: We propose a number of approaches that if adopted will significantly increase the genomic literacy and reduce the burden of genetic diseases in Africa.
    MeSH term(s) Africa/epidemiology ; Attitude to Health/ethnology ; Genetic Diseases, Inborn/epidemiology ; Genomics/education ; Genomics/methods ; Genomics/trends ; Health Knowledge, Attitudes, Practice/ethnology ; Humans ; Literacy/trends
    Language English
    Publishing date 2019-05-26
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.776
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  6. Article ; Online: Investigating colistin drug resistance: The role of high-throughput sequencing and bioinformatics.

    Aruhomukama, Dickson / Sserwadda, Ivan / Mboowa, Gerald

    F1000Research

    2019  Volume 8, Page(s) 150

    Abstract: Bacterial infections involving antibiotic-resistant gram-negative bacteria continue to increase and represent a major global public health concern. Resistance to antibiotics in these bacteria is mediated by chromosomal and/or acquired resistance ... ...

    Abstract Bacterial infections involving antibiotic-resistant gram-negative bacteria continue to increase and represent a major global public health concern. Resistance to antibiotics in these bacteria is mediated by chromosomal and/or acquired resistance mechanisms, these give rise to multi-drug resistant (MDR), extensive-drug resistant (XDR) or pan-drug resistant (PDR) bacterial strains. Most recently, plasmid-mediated resistance to colistin, an antibiotic that had been set apart as the last resort antibiotic in the treatment of infections involving MDR, XDR and PDR gram-negative bacteria has been reported. Plasmid-mediated colistin resistant gram-negative bacteria have been described to be PDR, implying a state devoid of alternative antibiotic therapeutic options. This review concisely describes the evolution of antibiotic resistance to plasmid-mediated colistin resistance and discusses the potential role of high-throughput sequencing technologies, genomics, and bioinformatics towards improving antibiotic resistance surveillance, the search for novel drug targets and precision antibiotic therapy focused at combating colistin resistance, and antibiotic resistance as a whole.
    MeSH term(s) Anti-Bacterial Agents ; Colistin/pharmacology ; Computational Biology ; Drug Resistance, Bacterial ; Gram-Negative Bacteria ; High-Throughput Nucleotide Sequencing
    Chemical Substances Anti-Bacterial Agents ; Colistin (Z67X93HJG1)
    Language English
    Publishing date 2019-02-04
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2699932-8
    ISSN 2046-1402 ; 2046-1402
    ISSN (online) 2046-1402
    ISSN 2046-1402
    DOI 10.12688/f1000research.18081.2
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  7. Article: Human Genomic Loci Important in Common Infectious Diseases: Role of High-Throughput Sequencing and Genome-Wide Association Studies.

    Mboowa, Gerald / Sserwadda, Ivan / Amujal, Marion / Namatovu, Norah

    The Canadian journal of infectious diseases & medical microbiology = Journal canadien des maladies infectieuses et de la microbiologie medicale

    2018  Volume 2018, Page(s) 1875217

    Abstract: HIV/AIDS, tuberculosis (TB), and malaria are 3 major global public health threats that undermine development in many resource-poor settings. Recently, the notion that positive selection during epidemics or longer periods of exposure to common infectious ... ...

    Abstract HIV/AIDS, tuberculosis (TB), and malaria are 3 major global public health threats that undermine development in many resource-poor settings. Recently, the notion that positive selection during epidemics or longer periods of exposure to common infectious diseases may have had a major effect in modifying the constitution of the human genome is being interrogated at a large scale in many populations around the world. This positive selection from infectious diseases increases power to detect associations in genome-wide association studies (GWASs). High-throughput sequencing (HTS) has transformed both the management of infectious diseases and continues to enable large-scale functional characterization of host resistance/susceptibility alleles and loci; a paradigm shift from single candidate gene studies. Application of genome sequencing technologies and genomics has enabled us to interrogate the host-pathogen interface for improving human health. Human populations are constantly locked in evolutionary arms races with pathogens; therefore, identification of common infectious disease-associated genomic variants/markers is important in therapeutic, vaccine development, and screening susceptible individuals in a population. This review describes a range of host-pathogen genomic loci that have been associated with disease susceptibility and resistant patterns in the era of HTS. We further highlight potential opportunities for these genetic markers.
    Keywords covid19
    Language English
    Publishing date 2018-03-20
    Publishing country Egypt
    Document type Journal Article ; Review
    ZDB-ID 1057056-1
    ISSN 1712-9532 ; 1180-2332
    ISSN 1712-9532 ; 1180-2332
    DOI 10.1155/2018/1875217
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  8. Article ; Online: Unraveling virulence determinants in extended-spectrum beta-lactamase-producing Escherichia coli from East Africa using whole-genome sequencing.

    Sserwadda, Ivan / Kidenya, Benson R / Kanyerezi, Stephen / Akaro, Inyasi Lawrence / Mkinze, Baraka / Mshana, Stephen E / Hashim, Suhaila O / Isoe, Everlyne / Seni, Jeremiah / Joloba, Moses L / Mboowa, Gerald

    BMC infectious diseases

    2023  Volume 23, Issue 1, Page(s) 587

    Abstract: Escherichia coli significantly causes nosocomial infections and rampant spread of antimicrobial resistance (AMR). There is limited data on genomic characterization of extended-spectrum β-lactamase (ESBL)-producing E. coli from African clinical settings. ... ...

    Abstract Escherichia coli significantly causes nosocomial infections and rampant spread of antimicrobial resistance (AMR). There is limited data on genomic characterization of extended-spectrum β-lactamase (ESBL)-producing E. coli from African clinical settings. This hospital-based longitudinal study unraveled the genetic resistance elements in ESBL E. coli isolates from Uganda and Tanzania using whole-genome sequencing (WGS). A total of 142 ESBL multi-drug resistant E. coli bacterial isolates from both Tanzania and Uganda were sequenced and out of these, 36/57 (63.1%) and 67/85 (78.8%) originated from Uganda and Tanzania respectively. Mutations in RarD, yaaA and ybgl conferring resistances to chloramphenicol, peroxidase and quinolones were observed from Ugandan and Tanzanian isolates. We reported very high frequencies for bla
    MeSH term(s) Humans ; Longitudinal Studies ; Virulence ; Uganda/epidemiology ; Enterotoxigenic Escherichia coli ; Chloramphenicol ; beta-Lactamases/genetics
    Chemical Substances Chloramphenicol (66974FR9Q1) ; beta-Lactamases (EC 3.5.2.6)
    Language English
    Publishing date 2023-09-07
    Publishing country England
    Document type Journal Article
    ZDB-ID 2041550-3
    ISSN 1471-2334 ; 1471-2334
    ISSN (online) 1471-2334
    ISSN 1471-2334
    DOI 10.1186/s12879-023-08579-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  9. Article ; Online: Impact of high human genetic diversity in Africa on immunogenicity and efficacy of RTS,S/AS01 vaccine.

    Tukwasibwe, Stephen / Mboowa, Gerald / Sserwadda, Ivan / Nankabirwa, Joaniter I / Arinaitwe, Emmanuel / Ssewanyana, Isaac / Taremwa, Yoweri / Tumusiime, Gerald / Kamya, Moses R / Jagannathan, Prasanna / Nakimuli, Annettee

    Immunogenetics

    2023  Volume 75, Issue 3, Page(s) 207–214

    Abstract: In modern medicine, vaccination is one of the most effective public health strategies to prevent infectious diseases. Indisputably, vaccines have saved millions of lives by reducing the burden of many serious infections such as polio, tuberculosis, ... ...

    Abstract In modern medicine, vaccination is one of the most effective public health strategies to prevent infectious diseases. Indisputably, vaccines have saved millions of lives by reducing the burden of many serious infections such as polio, tuberculosis, measles, pneumonia, and tetanus. Despite the recent recommendation by the World Health Organization (WHO) to roll out RTS,S/AS01, this malaria vaccine still faces major challenges of variability in its efficacy partly due to high genetic variation in humans and malaria parasites. Immune responses to malaria vary between individuals and populations. Human genetic variation in immune system genes is the probable cause for this heterogeneity. In this review, we will focus on human genetic factors that determine variable responses to vaccination and how variation in immune system genes affect the immunogenicity and efficacy of the RTS,S/AS01 vaccine.
    MeSH term(s) Humans ; Infant ; Malaria, Falciparum ; Africa ; Malaria ; Malaria Vaccines ; Genetic Variation
    Chemical Substances Malaria Vaccines
    Language English
    Publishing date 2023-04-21
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 186560-2
    ISSN 1432-1211 ; 0093-7711
    ISSN (online) 1432-1211
    ISSN 0093-7711
    DOI 10.1007/s00251-023-01306-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  10. Article ; Online: Transmission Dynamics of Antimicrobial Resistance at a National Referral Hospital in Uganda.

    Mboowa, Gerald / Sserwadda, Ivan / Bulafu, Douglas / Chaplain, Duku / Wewedru, Izale / Seni, Jeremiah / Kidenya, Benson / Mshana, Stephen / Joloba, Moses / Aruhomukama, Dickson

    The American journal of tropical medicine and hygiene

    2021  Volume 105, Issue 2, Page(s) 498–506

    Abstract: Reliable data on antimicrobial resistance (AMR) transmission dynamics in Uganda remains scarce; hence, we studied this area. Eighty-six index patients and "others" were recruited. Index patients were those who had been admitted to the orthopedic ward of ... ...

    Abstract Reliable data on antimicrobial resistance (AMR) transmission dynamics in Uganda remains scarce; hence, we studied this area. Eighty-six index patients and "others" were recruited. Index patients were those who had been admitted to the orthopedic ward of Mulago National Referral Hospital during the study period; "others" included medical and non-medical caretakers of the index patients, and index patients' immediate admitted hospital neighbors. Others were recruited only when index patients became positive for carrying antimicrobial-resistant bacteria (ARB) during their hospital stay. A total of 149 samples, including those from the inanimate environment, were analyzed microbiologically for ARB, and ARB were analyzed for their antimicrobial susceptibility profiles and mechanisms underlying observed resistances. We describe the diagnostic accuracy of the extended-spectrum β-lactamase (ESBL) production screening method, and AMR acquisition and transmission dynamics. Index patients were mostly carriers of ESBL-producing Enterobacteriaceae (PE) on admission, whereas non-ESBL-PE carriers on admission (61%) became carriers after 48 hours of admission (9%). The majority of ESBL-PE carriers on admission (56%) were referrals or transfers from other health-care facilities. Only 1 of 46 samples from the environment isolated an ESBL-PE. Marked resistance (> 90%) to β-lactams and folate-pathway inhibitors were observed. The ESBL screening method's sensitivity, specificity, positive predictive value, and negative predictive value were 100%, 50%, 90%, and 100%, respectively. AMR acquisition and transmission occurs via human-human interfaces within and outside of health-care facilities compared with human-inanimate environment interfaces. However, this remains subject to further research.
    MeSH term(s) Adolescent ; Adult ; Anti-Bacterial Agents/therapeutic use ; Carrier State/microbiology ; Child ; Child, Preschool ; Enterobacteriaceae/isolation & purification ; Enterobacteriaceae/metabolism ; Enterobacteriaceae Infections/drug therapy ; Enterobacteriaceae Infections/transmission ; Female ; Hospitalization ; Hospitals ; Humans ; Infant ; Male ; Microbial Sensitivity Tests ; Middle Aged ; Patient Admission ; Referral and Consultation ; Uganda ; beta-Lactam Resistance ; beta-Lactamases/metabolism ; beta-Lactams/therapeutic use
    Chemical Substances Anti-Bacterial Agents ; beta-Lactams ; beta-Lactamases (EC 3.5.2.6)
    Language English
    Publishing date 2021-06-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2942-7
    ISSN 1476-1645 ; 0002-9637
    ISSN (online) 1476-1645
    ISSN 0002-9637
    DOI 10.4269/ajtmh.20-1522
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

To top