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Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.

Aim: Pharmacogenomics is emerging in South Asia, including Sri Lanka, with potential to optimize drug therapy and reduce adverse effects. This review evaluates the state of pharmacogenomics research in Sri Lanka, emphasizing population-specific factors to guide future advancements. Materials & methods: A literature search was performed across PubMed/Web-of-Science/SciVerse-Scopus/Embase, and Sri Lanka Journals Online, along with searches for relevant theses in local health repositories/university databases. Studies were categorized into clinical correlational, descriptive or novel assay development studies. Results: Eleven published articles and eight theses were included. One study examined somatic variants ( KRAS gene), while all others focused on germline variants. There were two clinical correlational studies: tamoxifen adverse effects and CYP2D6 variants and FTO gene rs9939609 variants and weight gain caused by second-generation antipsychotics. Eight descriptive studies evaluated prevalence of CYP2D6 variants, HLA-B*15:02 allele, KRAS gene mutations and variants related to statin, warfarin and anticancer drug metabolism. Additionally, nine studies developed, validated and tested novel assays for detecting key pharmacogenomically important variants. Conclusion: While pharmacogenomics research in Sri Lanka has made strides, more clinical studies and broader genomic research are needed. Overcoming challenges related to funding, public awareness and regional collaboration is essential to advance personalized medicine and improve therapeutic outcomes in Sri Lanka and South Asia.

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.

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.