2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Genetic Testing and Screening for Spinal Muscular Atrophy in The Middle East

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This document discusses the genetic testing and screening for spinal muscular atrophy (SMA) in the Middle East, specifically in the United Arab Emirates (UAE). SMA is a genetic neurodegenerative disease characterized by progressive muscle atrophy and weakness, and it is the most common genetic cause of infant death due to respiratory insufficiency. The prevalence of SMA is estimated to be 1-2 per 100,000 people, with a higher incidence among populations with consanguinity marriages.<br /><br />The study aims to determine the diagnostic yield of SMA genetic testing in Middle Eastern patients and estimate the incidence and carrier frequency of SMA through newborn screening in the UAE. The results show that SMA genetic testing has a high diagnostic yield of 33% in Middle Eastern patients referred for muscle weakness and/or hypotonia. All patients with diagnostic SMA findings were eligible for FDA-approved gene therapy or antisense oligonucleotide treatment.<br /><br />Preliminary data from the newborn screening program suggests a carrier frequency of around 1% in the UAE population. The availability of SMA gene therapy makes newborn screening programs essential for early diagnosis and management of the disease.<br /><br />The study also highlights the high prevalence of congenital birth defects in the UAE and the correlation between consanguinity and genetic disorders, particularly autosomal recessive types. The Al Jalila Genomics Center is the first center in the UAE and the Middle East to offer fast clinically diagnostic SMA testing.<br /><br />Overall, the study emphasizes the importance of genetic testing and screening for SMA in the Middle Eastern population, particularly in countries with a high burden of the disease. Early diagnosis through newborn screening can lead to improved management and expedite the development of novel therapies.

Asset Subtitle

Presenting Author - Maha El Naofal, MSc; Co-Author - Ahmad Abou Tayoun, PhD, FACMG;

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Genetic Testing

Co-Author Ahmad Abou Tayoun, PhD, FACMG

Presenting Author Maha El Naofal, MSc

Keywords

genetic testing

screening

spinal muscular atrophy

SMA

Middle East

United Arab Emirates

neurodegenerative disease

diagnostic yield

newborn screening

gene therapy