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  1. Article ; Online: An international genomics health workforce education priorities assessment.

    Johnson, Desalyn / Dissanayake, Vajira Hw / Korf, Bruce R / Towery, Meredith / Haspel, Richard L

    Personalized medicine

    2022  Volume 19, Issue 4, Page(s) 299–306

    Abstract: Aim: ...

    Abstract Aim:
    MeSH term(s) Clinical Competence ; Curriculum ; Genomics/education ; Global Health ; Health Workforce ; Humans
    Language English
    Publishing date 2022-06-16
    Publishing country England
    Document type Journal Article
    ZDB-ID 2299146-3
    ISSN 1744-828X ; 1741-0541
    ISSN (online) 1744-828X
    ISSN 1741-0541
    DOI 10.2217/pme-2021-0094
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Diversity of pharmacogenomic variants affecting warfarin metabolism in Sri Lankans.

    Ranasinghe, Priyanga / Sirisena, Nirmala / Senadeera, Vidarsha / Anandagoda, Gayani / Dissanayake, Vajira Hw

    Pharmacogenomics

    2022  Volume 23, Issue 17, Page(s) 917–923

    Abstract: ... Aims: ... To describe the diversity of pharmacogenomic variants affecting warfarin metabolism in Sri Lankans. ... Materials & methods: ... Genotype data were filtered out from an anonymized database of 400 Sri Lankans, and minor allele frequencies (MAF) ...

    Abstract Aims: To describe the diversity of pharmacogenomic variants affecting warfarin metabolism in Sri Lankans. Materials & methods: Genotype data were filtered out from an anonymized database of 400 Sri Lankans, and minor allele frequencies (MAF) were calculated. Variants of CYP2C9, VKORC1 and CYP4F2 genes were studied. Results: Overall, CYP2C9*2 and CYP2C9*3 alleles had MAFs of 2.25% (95% CI: 0.80-3.70) and 10.38% (95% CI: 7.50-13.50), respectively. CYP2C9*11 and CYP2C9*14 alleles had MAFs of 0.13% (95% CI: 0-0.74) and 2.50% (95% CI: 0.97-4.03), respectively. MAFs of VKORC1 variants rs7294, rs9934438, rs8050894 and rs2884737 were 47.25% (95% CI: 42.36-52.14), 10.13% (95% CI: 7.28-13.22), 9.88% (95% CI: 7.06-12.94) and 4.88% (95% CI: 2.86-7.14), respectively. MAF of CYP4F2 variant rs2108622 was 45.63% (95% CI: 40.87-50.63). Conclusion: Compared with other populations, the frequencies of some studied variants were significantly different in Sri Lankans, and these are likely to account for variability in warfarin dosage requirements.
    MeSH term(s) Humans ; Warfarin ; Vitamin K Epoxide Reductases/genetics ; Cytochrome P-450 CYP2C9/genetics ; Pharmacogenomic Variants ; Cytochrome P450 Family 4/genetics ; Sri Lanka ; Anticoagulants ; Genotype ; Dose-Response Relationship, Drug
    Chemical Substances Warfarin (5Q7ZVV76EI) ; Vitamin K Epoxide Reductases (EC 1.17.4.4) ; Cytochrome P-450 CYP2C9 (EC 1.14.13.-) ; Cytochrome P450 Family 4 (EC 1.14.14.1) ; Anticoagulants ; VKORC1 protein, human (EC 1.17.4.4)
    Language English
    Publishing date 2022-10-26
    Publishing country England
    Document type Journal Article
    ZDB-ID 2019513-8
    ISSN 1744-8042 ; 1462-2416
    ISSN (online) 1744-8042
    ISSN 1462-2416
    DOI 10.2217/pgs-2022-0026
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  3. Article ; Online: Pharmacogenomic variants affecting efficacy and toxicity of statins in a south Asian population from Sri Lanka.

    Ranasinghe, Priyanga / Sirisena, Nirmala / Ariadurai, Jeremy N / Vishnukanthan, Thuwaragesh / Thilakarathne, Sathsarani / Anandagoda, Gayani / Dissanayake, Vajira Hw

    Pharmacogenomics

    2023  Volume 24, Issue 15, Page(s) 809–819

    Abstract: Aim: ...

    Abstract Aim:
    MeSH term(s) Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/adverse effects ; Pharmacogenomic Variants ; Sri Lanka/epidemiology ; Cytochrome P-450 CYP2C9/genetics ; Gene Frequency/genetics ; Polymorphism, Single Nucleotide/genetics ; Liver-Specific Organic Anion Transporter 1/genetics
    Chemical Substances Hydroxymethylglutaryl-CoA Reductase Inhibitors ; Cytochrome P-450 CYP2C9 (EC 1.14.13.-) ; SLCO1B1 protein, human ; Liver-Specific Organic Anion Transporter 1
    Language English
    Publishing date 2023-10-25
    Publishing country England
    Document type Journal Article
    ZDB-ID 2019513-8
    ISSN 1744-8042 ; 1462-2416
    ISSN (online) 1744-8042
    ISSN 1462-2416
    DOI 10.2217/pgs-2023-0149
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    In stock of ZB MED Cologne/Königswinter

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  4. Article ; Online: Strengthening health systems through informatics capacity development among doctors in low-resource contexts: the Sri Lankan experience.

    Siribaddana, Pandula / Hewapathirana, Roshan / Jayatilleke, Achala U / Sahay, Sundeep / Dissanayake, Vajira Hw

    WHO South-East Asia journal of public health

    2019  Volume 8, Issue 2, Page(s) 87–94

    Abstract: In the process of strengthening health systems, a lack of health-informatics capacity within low- and middle-income country settings is a considerable challenge. Many capacity-development initiatives on health informatics exist, most of which focus on ... ...

    Abstract In the process of strengthening health systems, a lack of health-informatics capacity within low- and middle-income country settings is a considerable challenge. Many capacity-development initiatives on health informatics exist, most of which focus on the adoption of eHealth tools by front-line health-care workers. By contrast, there are only a few programmes that focus on empowering medical doctors in low- and middle-income countries to become champions of digital health innovation and adoption. Sri Lanka has a dynamic eHealth ecosystem, resulting largely from the country’s community of medical doctors who are also health informaticians. They are the result of a decade-long programme centred on a Master of Science degree course in biomedical informatics, which has trained over 150 medical doctors to date, and has now been extended to a specialist training programme. This paper evaluates this unique capacity-development effort from the perspective of strengthening health systems and how those in other low- and middle-income country contexts may learn from the Sri Lankan experience when implementing capacity-development programmes in health informatics.
    MeSH term(s) Capacity Building ; Education, Medical, Graduate ; Government Programs ; Health Resources ; Humans ; Medical Informatics/education ; Organizational Culture ; Physicians ; Sri Lanka ; Telemedicine
    Language English
    Publishing date 2019-08-23
    Publishing country India
    Document type Journal Article
    ZDB-ID 2676354-0
    ISSN 2304-5272 ; 2224-3151 ; 2224-3151
    ISSN (online) 2304-5272 ; 2224-3151
    ISSN 2224-3151
    DOI 10.4103/2224-3151.264852
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Sri Lanka's national assessment on innovation and intellectual property for access to medical products.

    Beneragama, Hemantha / Shridhar, Manisha / Ranasinghe, Thushara / Dissanayake, Vajira Hw

    WHO South-East Asia journal of public health

    2017  Volume 5, Issue 2, Page(s) 102–105

    Abstract: In 2008, the Global strategy and plan of action on public health, innovation and intellectual property (GSPA-PHI) was launched by the World Health Organization, to stimulate fresh thinking on innovation in, and access to, medicines and to build ... ...

    Abstract In 2008, the Global strategy and plan of action on public health, innovation and intellectual property (GSPA-PHI) was launched by the World Health Organization, to stimulate fresh thinking on innovation in, and access to, medicines and to build sustainable research on diseases disproportionately affecting low- and middle-income countries. As part of the activities of the GSPA-PHI, Sri Lanka has been the first country to date to assess the national environment for medical technology and innovation. This year-long, multistakeholder, participative analysis facilitated identification of clear and implementable policy recommendations, for the government to increase its effectiveness in promoting innovation in health products through institutional development, investment and coordination among all areas relevant to public health. The assessment also highlighted areas for priority action, including closing the technology gap in development of health products, facilitating technology transfer, and building the health-research and allied workforces. The Sri Lankan experience will inform the ongoing independent external evaluation of the GSPA-PHI worldwide. The assessment process coincided with the passing of the National Medicines Regulatory Authority Act in 2015. In addition, there is growing recognition that regional cooperation will be critical to improving access to medical products in the future. Sri Lanka is therefore actively promoting cooperation to establish a regional regulatory affairs network. Lessons learnt from the Sri Lankan assessment may also benefit other countries embarking on a national GSPA-PHI assessment.
    MeSH term(s) Biomedical Research/organization & administration ; Health Services Accessibility ; Humans ; Intellectual Property ; Inventions ; Organizational Innovation ; Public Health ; Sri Lanka ; World Health Organization
    Language English
    Publishing date 2017-06-12
    Publishing country India
    Document type Journal Article
    ZDB-ID 2676354-0
    ISSN 2304-5272 ; 2304-5272 ; 2224-3151
    ISSN (online) 2304-5272
    ISSN 2304-5272 ; 2224-3151
    DOI 10.4103/2224-3151.206245
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  6. Article ; Online: A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.

    Dissanayake, Vajira Hw / Jayasinghe, Jayan D / Thilakaratne, Viranga / Jayasekara, Rohan W

    Journal of molecular and genetic medicine : an international journal of biomedical research

    2011  Volume 5, Page(s) 262–263

    Language English
    Publishing date 2011-05-18
    Publishing country England
    Document type Case Reports
    ZDB-ID 2202415-3
    ISSN 1747-0862 ; 1747-0862
    ISSN (online) 1747-0862
    ISSN 1747-0862
    DOI 10.4172/1747-0862.1000046
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: A Child with a Novel de novo Mutation in the Aristaless Domain of the Aristaless-Related Homeobox ; Gene Presenting with Ambiguous Genitalia and Psychomotor Delay

    Sirisena, Nirmala Dushyanthi / McElreavey, Kenneth / Bashamboo, Anu / de Silva, K. Shamya H. / Jayasekara, Rohan W. / Dissanayake, Vajira H.W.

    Sexual Development

    2014  Volume 8, Issue 4, Page(s) 156–159

    Abstract: The objective of this study was to identify disease-causing mutations in a Sri Lankan male child presenting with ambiguous genitalia and psychomotor delay using the exome sequencing approach. A novel mutation in the aristaless-related homeobox (ARX) gene ...

    Institution Human Genetics Unit, and Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka Human Developmental Genetics, Institut Pasteur, Paris, France
    Abstract The objective of this study was to identify disease-causing mutations in a Sri Lankan male child presenting with ambiguous genitalia and psychomotor delay using the exome sequencing approach. A novel mutation in the aristaless-related homeobox (ARX) gene causing a hemizygous nucleotide substitution in exon 5 was identified (NM_139058.2 (ARX): c.1614G>T; p.K538N). This change causes a nonsynonymous substitution in the aristaless domain within the ARX protein which is predicted to be deleterious. This is the first reported case of ambiguous genitalia and psychomotor delay associated with this novel missense mutation within the ARX protein, and it highlights the value of exome sequencing even in sporadic cases.
    Keywords Ambiguous genitalia ; Disorders of sex development ; Exome sequencing ; Undervirilization
    Language English
    Publishing date 2014-07-25
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Short Report
    ZDB-ID 2253672-3
    ISSN 1661-5433 ; 1661-5425
    ISSN (online) 1661-5433
    ISSN 1661-5425
    DOI 10.1159/000365458
    Database Karger publisher's database

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