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Introducing the first whole genomes of nationals from the United Arab Emirates.

ABSTRACT: Whole Genome Sequencing (WGS) provides an in depth description of genome variation. In the era of large-scale population genome projects, the assembly of ethnic-specific genomes combined with mapping human reference genomes of underrepresented populations has improved the understanding of human diversity and disease associations. In this study, for the first time, whole genome sequences of two nationals of the United Arab Emirates (UAE) at >27X coverage are reported. The two Emirati individuals were predominantly of Central/South Asian ancestry. An in-house customized pipeline using BWA, Picard followed by the GATK tools to map the raw data from whole genome sequences of both individuals was used. A total of 3,994,521 variants (3,350,574 Single Nucleotide Polymorphisms (SNPs) and 643,947 indels) were identified for the first individual, the UAE S001 sample. A similar number of variants, 4,031,580 (3,373,501 SNPs and 658,079 indels), were identified for UAE S002. Variants that are associated with diabetes, hypertension, increased cholesterol levels, and obesity were also identified in these individuals. These Whole Genome Sequences has provided a starting point for constructing a UAE reference panel which will lead to improvements in the delivery of precision medicine, quality of life for affected individuals and a reduction in healthcare costs. The information compiled will likely lead to the identification of target genes that could potentially lead to the development of novel therapeutic modalities.

SUBMITTER: AlSafar HS

PROVIDER: S-EPMC6789106 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar Habiba S HS Al-Ali Mariam M Elbait Gihan Daw GD Al-Maini Mustafa H MH Ruta Dymitr D Peramo Braulio B Henschel Andreas A Tay Guan K GK

Scientific reports 20191011 1

Whole Genome Sequencing (WGS) provides an in depth description of genome variation. In the era of large-scale population genome projects, the assembly of ethnic-specific genomes combined with mapping human reference genomes of underrepresented populations has improved the understanding of human diversity and disease associations. In this study, for the first time, whole genome sequences of two nationals of the United Arab Emirates (UAE) at >27X coverage are reported. The two Emirati individuals ...[more]

PMID: 31604968

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Project description:BackgroundThis study reports on the use of whole exome sequencing (WES) to diagnose children with inborn errors of metabolism and other disorders in United Arab Emirates.MethodsFrom January 2012 to December 2014, 85 patients (46 % females) were seen in the metabolic center at Tawam Hospital (Abu Dhabi) and WES testing was requested because definitive diagnoses were not reached by conventional methods.ResultsEighty (93 %) patients were <18 years old and 44 (52 %) were <5 years. Sixty-eight (80 %) patients had neurologic abnormalities. WES facilitated rapid diagnosis in 50 % of the patients, especially those with mitochondrial disorders. Yet, in most cases extensive investigation was required after the results were available. Most patients with confirmed molecular diagnoses had autosomal recessive disorders and were homozygous for the rare alleles. Most patients with autosomal dominant disorders and all patients with X-linked disorders had de novo mutations. WES results were negative (no pathogenic variants related to patient phenotype were identified) in six patients and incorrect in two patients. One patient had a reported "deleterious" hemizygous mutation in SLC35A2, c.617_620del (p.Q206fs), suggesting 'congenital disorder of glycosylation, TYPE IIm', but glycosylation studies were normal and healthy brothers had the same mutation. Another patient had "pathogenic" mutation in MCCC2, c.1015G > A (p.V339M), but urine organic acids was normal. WES confirmed inborn errors of metabolism (five mitochondrial diseases, three lysosomal storage diseases, and six other disorders) in 14 patients and genetic disorders (14 neurological diseases and three non-neurological diseases) in 17 patients. Variants of unknown significance were identified in 48 patients; 12 had "confirmed pathologic variants"and 12 had "likely pathologic variants", based on consistent phenotypes, biochemical/ segregation studies, or reported pathogenicity. In 24 patients, the variants were inconsistent with phenotypes or biochemical/ familial studies.ConclusionsAlthough WES provided molecular diagnoses, the results required careful interpretations and many patients required additional investigations. This tool is useful when conventional diagnostic methods fail. Staff competence in obtaining consent/ permission, interpreting the findings, and providing the proper counseling are essential before incorporating this technology into routine clinical practices.

Project description:BackgroundThe value of interprofessional education (IPE) in nurturing healthcare professionals, and in shaping their professional identities, and their attitudes towards interdisciplinary teamwork and collaboration is established in the literature. IPE is an emerging concept in the Middle East and North Africa (MENA) region and is new to the United Arab Emirates (UAE). To date, the applicability and feasibility of IPE and of the corresponding collaborative practice in MENA countries remain largely unexamined.PurposeTo investigate the effect of one of the first experiences of IPE in the UAE, which was purposefully designed in alignment with the principles of the Situated Learning Theory (SLT), on the readiness for interprofessional learning and collaboration among students of various healthcare disciplines in the UAE.MethodsA pre-post intervention quantitative research design was adopted for this study. The intervention focused on communication skills, and consisted of 2 tailor-made case-based scenarios. A total of 90 students (40 medical, 16 nursing, 16 pharmacy, and 18 physiotherapy), spread across two sessions (1 session per academic year across 2 academic years), took part in the IPE intervention. Readiness for Interprofessional Learning Scale (RIPLS) was used as the pre- and post- intervention assessments; aggregate data was analyzed using SPSS.ResultsOf those who participated in the intervention (across both rounds), 77 participants responded to the pre-assessment (85. 6%) and 84 responded to the post-assessment (93. 3%). The IPE intervention under investigation significantly increased the level of readiness to engage in cross-disciplinary learning and collaboration among participating health professions' students. In terms of the subscales, the participants' openness to engage in teamwork was raised and their professional identity was fostered. Yet, no statistical significance around clarity of roles and responsibilities was detected.ConclusionThe findings of this study encourage other universities in the MENA region to adopt IPE to improve future health professionals' capacity to develop shared understanding and mutual respect within cross-disciplinary teams. This, ultimately, feeds into improved quality of care and patient outcomes.

Dataset Information

Introducing the first whole genomes of nationals from the United Arab Emirates.

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Introducing the first whole genomes of nationals from the United Arab Emirates.

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