Browsing by Author "Khansaheb, Hamda H"

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    miRNA biomarkers for prognosis and therapy monitoring in a multi ethnic cohort with SARS-CoV-2 infection
    (Springer Science and Business Media LLC, 2025-08-21) Khansaheb, Hamda H; Alqassim, Saif S; Alsheikh-Ali, Alawi
    This study aimed to identify miRNA-based biomarkers in a multi-ethnic cohort of SARS-CoV-2-infected individuals to enhance preparedness for future variants of concern. A total of 31 healthy controls and 154 infected patients were enrolled, from which 13 matched controls and 38 infected nasal swab samples were analyzed using miRNA sequencing, followed by qRT-PCR validation. Among the 1788 miRNAs detected, 14 differentially expressed miRNAs and four novel miRNAs were identified, with novel-miR-264-5p showing a ≥ 2-fold change. Correlation with clinical markers highlighted several miRNAs as potential prognostic biomarkers. Seven miRNAs, including miR-146b-3p, miR-154-5p, miR- 5010-3p, miR-127-3p, miR-335-3p, miR-30c-5p, and miR-202-5p, showed strong prognostic potential. Combined ROC analysis demonstrated that a panel of top-performing miRNAs significantly enhanced diagnostic accuracy (AUC 0.939–0.972; p < 0.0001). Moreover, integrating miRNA biomarkers with clinical parameters further improved performance (AUC = 0.982; p < 0.0001). miR-146b-3p, detected exclusively in infected patients, emerged as a highly specific biomarker. Several nasal miRNAs mirrored blood profiles, highlighting the utility of nasal swabs for non-invasive monitoring. Collectively, these findings suggest that miRNA-based biomarkers, alone or combined with clinical markers, offer a promising platform for COVID-19 prognosis and diagnosis, and lay groundwork for future miRNA based antiviral strategies.
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    Pathogenic variation underlying rare diseases in an Arab Population: implications for screening programs
    (Springer Science and Business Media LLC, 2024-11-12) Chekroun, Ikram; Rabea, Fatma; Abuijlan, Eman; Uddin, Mohammed; Almarri, Mohamed; Alkhnbashi, Omer S; Khansaheb, Hamda H; Al Suwaidi, Hanan; Du Plessis, Stefan S; Alsheikh Ali, Alawi; Tayoun, Ahmad Abou
    Background: Genetic variation underlying rare diseases in Arab populations is poorly understood, limiting effective carrier screening for recessive disorders which are prevalent due to high consanguineous rates. Methods: Using the ACMG/AMP guidelines, we curated pathogenic and likely pathogenic variants in 1,333 Arab Emirati families (346 internal cohort and 987 from the literature). We also analyzed coding pathogenic variants in 1,194 Emirati exomes, calculated allele frequencies, and estimated carrier rates for the associated recessive conditions. Results: Among the 1,333 families, 701 out of 855 variants met the ACMG/AMP criteria for pathogenicity, with 52% and 30% being absent from the gnomAD and ClinVar databases, respectively. Independently, we determined the frequency of coding pathogenic variants in 1,194 Emirati exomes as well as cumulative gene-disease carrier rates. The CYP21A2 gene showed the highest carrier rate (10.6%) followed by HBB (9.6%), MEFV (5.9%) and ABCA4 (4.3%). Using a provisional gene list for carrier screening, based on our analysis, we estimate the rate of at-risk couples (4–21%) which varies across different screening gene lists recommended in other populations. Conclusion: Our findings emphasize the necessity of identifying prevalent diseases in underrepresented populations to develop effective and equitable preventive public health measures, including premarital screening programs.