Publications by authors named "T Ben-Omran"
Genetic counseling is a dynamic and rapidly growing field. In Qatar, the significance of genetic counseling is underscored by the distinctive demographic characteristics of the population, including elevated rates of consanguinity and larger family sizes, contributing to the increased incidence of many genetic conditions. This emphasizes the crucial role of genetic counseling in addressing the specific needs of the community.
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- The study focuses on inherited metabolic disorders (IMDs), estimating that 2-3% of live births globally are affected, with a high prevalence in consanguineous regions due to the autosomal recessive nature of many IMDs.
- Utilizing genome sequencing data from over 14,000 Qatari adults, the research analyzed genetic variants linked to 115 treatable IMDs, uncovering 253 significant genetic variations across 69 disorders.
- The findings indicate that about 8% of unrelated individuals carry pathogenic variants for at least one treatable IMD, highlighting conditions like phenylketonuria with the highest carrier rates, suggesting that such studies could enhance public health initiatives like screening programs.
Background: Familial hemophagocytic lymphohistiocytosis (FHLH) is an inherited life-threatening disease. Five types are identified, with the addition of congenital immunodeficiency syndromes in which HLH is a typical manifestation. The literature on this disease is very scarce in the Middle East, with only a few scattered reports.
View Article and Find Full Text PDFAchondroplasia is a lifelong condition requiring lifelong management. There is consensus that infants and children with achondroplasia should be managed by a multidisciplinary team experienced in the condition. However, many people are lost to follow-up after the transition from paediatric to adult care, and there is no standardised approach for management in adults, despite the recent availability of international consensus guidelines.
View Article and Find Full Text PDFBackground: Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies.
Methods: Here, we interrogate 6045 whole genomes from Qatar-a Middle Eastern population with high consanguinity and understudied mutational burden-enrolled at the national Biobank and phenotyped for 58 clinically-relevant quantitative traits. We examine a curated set of 2648 Mendelian genes from 20 panels, annotating known and novel pathogenic variants and assessing their penetrance and impact on the measured traits.