Browsing by Author "Chekroun, Ikram"

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Genomics of rare diseases in the Greater Middle East.
(2025-02-03) Chekroun, Ikram; Almarri, Mohamed A; Uddin, Mohammed; Alkhnbashi, Omer S; Ali, Fahad R; Alsheikh-Ali, Alawi; Abou Tayoun, Ahmad N
The Greater Middle East (GME) represents a concentrated region of unparalleled genetic diversity, characterized by an abundance of distinct alleles, founder mutations and extensive autozygosity driven by high consanguinity rates. These genetic hallmarks present a unique, yet vastly untapped resource for genomic research on Mendelian diseases. Despite this immense potential, the GME continues to face substantial challenges in comprehensive data collection and analysis. This Perspective highlights the region's unique position as a natural laboratory for genetic discovery and explores the challenges that have stifled progress thus far. Importantly, we propose strategic solutions, advocating for an all-inclusive research approach. With targeted investment and focused efforts, the latent genetic wealth in the GME can be transformed into a global hub for genomic research that will redefine and advance our understanding of the human genome.
Premarital genomic screening in Arab populations of the Middle East
(Springer Science and Business Media LLC, 2025-01-09) Chekroun, Ikram; Rabea, Fatma; Alsheikh-Ali, Alawi; Tayoun, Ahmad Abou
Premarital genomic screening can help curb the burden of rare reces sive disorders in populations with high rates of consanguineous mar riages. Arab populations of the Middle East have a unique genetic blend characterized by founder mutations due to historical bottlenecks, and diverse allelic series shaped by a long history of migrations and intermixing. The risk of homozygous pathogenic variants, which can lead to reces sive genetic disorders, is elevated because of the high prevalence of consanguineous mar riages, particularly unions between first cous ins, culturally rooted in this region1 . As a result, the cumulative incidence of rare recessive dis orders is expected to be higher in Arab popu lations compared to others, often leading to chronic, severe and life-limiting conditions, such as hemoglobinopathies, spinal muscular atrophy, congenital malformations and meta bolic disorders2 . This places an immense emo tional and financial strain on affected families and healthcare systems across the region.
Premarital genomic screening in Arab populations of the Middle East.
(2025-02) Chekroun, Ikram; Rabea, Fatma; Alsheikh-Ali, Alawi; Tayoun, Ahmad Abou
Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations
(2024) Rabea, Fatma; Chekroun, Ikram; Loney, Tom; Alsheikh-Ali, Alawi; Tayoun, Ahmad Abou
Abstract Background: Spinal muscular atrophy (SMA) is a fatal autosomal recessive disorder for which several treatment options, including a gene therapy, have become available. SMA incidence has not been well-characterized in most Arab countries where rates of consanguinity are high. Understanding SMA disease epidemiology has important implications for screening, prevention, and treatment in those populations. Methods: We perform SMA diagnostic testing in a clinical multi-national patient cohort (N =171) referred for hypotonia and/or muscle weakness. In addition, we carry out genetic newborn screening for SMA on 1502 healthy Emirati newborns to estimate the carrier frequency and incidence of the disease in the United Arab Emirates. Results: Patients referred for SMA genetic testing are mostly Arabs (82%) representing 18 countries. The overall diagnostic yield is 33.9%, which is higher (>50%) for certain nationalities. Most patients (71%) has two SMN2 copies and earlier disease onset. For the first time, we estimate SMA carrier frequency (1.3%)and incidence of the disease(1in7122 live births) in the United Arab Emirates. Using birth and marriage rates in two Arab populations (United Arab Emirates and Saudi Arabia), as well as disease incidence in both countries, we show that, besides preventing new cases, premarital genetic screening could potentially result in around $8 to $324 million annual cost savings, respectively, relative to postnatal treatment. Conclusions: The SMA carrier frequency and incidence we document suggests high potential benefit for universal implementation of premarital genomic screening for a wide range of recessive disorders in Arab populations.