A5004922813- SARS-CoV-2 and COVID-19 Research
- interferon and immune responses
- Genomics and Rare Diseases
- COVID-19 Clinical Research Studies
- Respiratory viral infections research
- Inflammasome and immune disorders
- Genomic variations and chromosomal abnormalities
- Animal Virus Infections Studies
- RNA modifications and cancer
- Diabetes and associated disorders
- Cancer Genomics and Diagnostics
- Immunodeficiency and Autoimmune Disorders
- Kawasaki Disease and Coronary Complications
- Neurogenetic and Muscular Disorders Research
- Plant Virus Research Studies
- SARS-CoV-2 detection and testing
- COVID-19 epidemiological studies
- Immune Cell Function and Interaction
- Immune Response and Inflammation
- Viral gastroenteritis research and epidemiology
- Cardiac Structural Anomalies and Repair
- Genetic Associations and Epidemiology
- Microbial Community Ecology and Physiology
- Connexins and lens biology
- Bacteriophages and microbial interactions
Dubai Health Authority
2025
Al Jalila Foundation
2020-2024
Children's Specialty Group
2021-2024
Autoantibodies neutralizing type I interferons (IFNs) can underlie critical COVID-19 pneumonia and yellow fever vaccine disease. We report here on 13 patients harboring autoantibodies IFN-α2 alone (five patients) or with IFN-ω (eight from a cohort of 279 (4.7%) aged 6–73 yr influenza pneumonia. Nine four had antibodies high low concentrations, respectively, IFN-α2, six two IFN-ω. The patients’ increased A virus replication in both A549 cells reconstituted human airway epithelia. prevalence...
Characterizing key molecular and cellular pathways involved in COVID-19 is essential for disease prognosis management. We perform shotgun transcriptome sequencing of human RNA obtained from nasopharyngeal swabs patients with COVID-19, identify a signature associated severity. Specifically, we globally dysregulated immune related pathways, such as cytokine-cytokine receptor signaling, complement coagulation cascades, JAK-STAT, TGF- β signaling all, though to higher extent severe symptoms. The...
Abstract Background Rare diseases collectively impose a significant burden on healthcare systems, especially in underserved regions, like the Middle East, which lack access to genomic diagnostic services and associated personalized management plans. Methods We established clinical genomics genetic counseling facility, within multidisciplinary tertiary pediatric center, United Arab Emirates locally diagnose manage patients with rare diseases. Clinical investigations included exome-based...
With ongoing improvements in the detection of complex genomic and epigenomic variations, long-read sequencing (LRS) technologies could serve as a unified platform for clinical genetic testing, particularly rare disease settings, where nearly half patients remain undiagnosed using existing technologies. Here, we report simplified funnel-down filtration strategy aimed at enhancing identification small large deleterious variants well abnormal episignature profiles from whole-genome LRS data....
Abstract With ongoing improvements in accuracy and capacity to detect complex genomic epigenomic variations, long-read sequencing (LRS) technologies could serve as a unified platform for clinical genetic testing, particularly rare disease settings, where nearly half of patients remain undiagnosed using existing technologies. Here, we report simplified funnel-down filtration strategy aimed at identifying large deleterious variants abnormal episignature profiles from whole-genome LRS data....
International travel played a significant role in the early global spread of SARS-CoV-2. Understanding transmission patterns from different regions world will further inform dynamics pandemic. Using data Dubai United Arab Emirates (UAE), major international hub Middle East, we establish SARS-CoV-2 full genome sequences index and COVID-19 patients UAE. The are analysed context virus introductions, chain transmissions, possible links to earlier strains other world. Phylogenetic analysis showed...
Abstract Background With the gradual reopening of economies and resumption social life, robust surveillance mechanisms should be implemented to control ongoing COVID-19 pandemic. Unlike RT-qPCR, SARS-CoV-2 whole genome sequencing (cWGS) has added advantage identifying cryptic origins virus, extent community-based transmissions versus new viral introductions, which can in turn influence public health policy decisions. However, practical cost considerations cWGS addressed before it is widely...
Clinical, genetic, and laboratory characteristics of Middle Eastern patients with multisystem inflammatory syndrome in children (MIS-C) have not yet been documented.To assess the genetic clinical MIS-C primarily Arab Asian origin.A prospective, multicenter cohort study was conducted from September 1, 2020, to August 31, 2021, United Emirates Jordan. Forty-five a matched control group 25 healthy confirmed SARS-CoV-2 infection status were recruited. Whole exome sequencing all 70 participants...
Clinical exome sequencing (CES) has become a routine diagnostic tool in several pediatric subspecialties, with reported average yield of ~25% this patient poulation. The utility CES the United Arab Emirates (UAE) not been previously investigated, most likely due to lack appropriate tertiary centers and genomic facilities country. Here, we report, for first time, findings on multispecialty cohort UAE (N = 51). This cohort, which was mostly Emirati (86%; 44/51), followed at Al Jalila...
Genetic variation in populations of Middle Eastern origin remains highly underrepresented most comprehensive genomic databases. This underrepresentation hampers the functional annotation human genome and challenges accurate clinical variant interpretation. To highlight importance capturing genetic East, we aggregated whole exome sequencing data from 2116 individuals East established Variation (MEV) database. Of high-impact coding (missense loss function) variants this database, 53% were...
Abstract Studies of genetic factors associated with severe COVID-19 in young adults have been limited non-Caucasian populations. Here, we use whole exome sequencing to characterize the landscape a well phenotyped cohort otherwise healthy, (N=55; mean age 34.1 ± SD 5.0 years) representing 16 countries Asia, Middle East, and North Africa. Our findings show enrichment rare, likely deleterious missense truncating variants interferon-mediated bacterial infection-susceptibility genes, when...
The geographic location and heterogeneous multi-ethnic population of Dubai (United Arab Emirates; UAE) provide a unique setting to explore the global molecular epidemiology SARS-CoV-2 relationship between different viral strains disease severity. We systematically selected (i.e. every 100th individual in central COVID-19 database) 256 patients by age, sex, severity month representative sample laboratory-confirmed (nasopharyngeal swab PCR positive) during first wave UAE outbreak (January June...
The IFIH1 gene, encoding melanoma differentiation-associated protein 5 (MDA5), is an indispensable innate immune regulator involved in the early detection of viral infections. Previous studies described MDA5 dysregulation weakened immunological responses, and increased susceptibility to microbial infections autoimmune disorders. Monoallelic gain-of-function gene has been associated with multisystem disorders, namely Aicardi-Goutieres Singleton-Merten syndromes, while biallelic loss causes...
Exome- or genome-based panels-also known as slices virtual panels-are now a popular approach that involves comprehensive genomic sequencing while restricting analysis to subsets of genes based on patients' phenotypes. This flexible strategy enables frequent gene updates novel disease associations well reflexing analyzing other up the whole exome genome. With recent improvements addressing limitations associated with panels, advantages this approach, relative static custom-based remain be...
The recent COVID-19 pandemic has demonstrated again the global threat posed by emerging zoonotic coronaviruses. During past two decades alone, humans have experienced emergence of several coronaviruses, such as SARS-CoV in 2003, MERS-CoV 2012, and SARS-CoV-2 2019. To date, been detected 27 countries, with a case fatality ratio approximately 34.5%. Similar to other presumably originated from bats; however, main reservoir primary source human infections are dromedary camels. Other species...
Abstract International travel played a significant role in the early global spread of SARS-CoV-2. Understanding transmission patterns from different regions world will further inform dynamics pandemic. Using data Dubai United Arab Emirates (UAE), major international hub Middle East, we establish SARS-CoV-2 full genome sequences index and COVID-19 patients UAE. The are analysed context virus introductions, chain transmissions, possible links to earlier strains other world. Phylogenetic...
Studies of genetic factors associated with severe COVID-19 in young adults have been limited non-Caucasian populations. Here, we clinically characterize a case series patients COVID-19, who were otherwise healthy, (N = 55; mean age 34.1 ± SD 5.0 years) from 16 Asian, Middle Eastern, and North African countries. Using whole exome sequencing, identify rare, likely deleterious variants affecting immune-related genes 17 out 55 (31%), including 7 (41% all carriers or 12.7% patients) harbored...
<title>Abstract</title> 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 variants 1,333 Emirati families (346 internal cohort 987 from literature). We also analyzed coding 1,194 exomes, calculated allele frequencies, estimated rates associated conditions....
Abstract Background Spinal Muscular Atrophy (SMA) is one of the most common recessive disorders for which several life-saving treatment options are currently available. It essential to establish universal SMA screening and diagnostic programs using scalable, cost-effective accessible platforms accurately identify all variation types, complicated by homologous SMN1 SMN2 genes. Methods We developed a dual-mode PCR-based target enrichment that generates 2.7 11.2 kb amplicons spanning genes...
Abstract BACKGROUND Rare diseases collectively impose significant burden on healthcare systems, especially in underserved regions, like the Middle East, which lack access to genomic diagnostic services and associated personalized management plans. METHODS We established a clinical genomics genetic counselling facility, within multidisciplinary tertiary paediatric center, United Arab Emirates locally diagnose manage patients with rare diseases. Clinical investigations included exome-based...