The Centre for Arab Genomic Studies (CAGS) ‎concluded its monthly webinar series, focusing on different aspects of human ‎genetics. The last webinar in the series ‎focused on metabolic disorders and was ‎attended by more than 300 ‎participants from all over the world.‎ ‎

 

Inherited disorders of ‎metabolism (IEM) occur mainly due to deficiencies in the ‎enzyme that ‎are necessary to convert one metabolite to another metabolite. The ‎‎manifestations of these disorders are either due to the accumulation of ‎large ‎amounts of one metabolite or a deficiency of one or more ‎metabolites. The ‎webinar provided an overview of IEMs and took a ‎more in-depth look at ‎neonatal screening programmers designed for the ‎early detection and treatment ‎of these disorders.‎

 

The webinar hosted talks from Dr. Fathiya Al Murshedi, Consultant at the ‎Genetic and Developmental Medicine Clinic, Sultan Qaboos University ‎Hospital, and Dr. David Kasper, CEO and Founder of Archimed Life medical ‎Laboratories, based in Austria. The webinar was moderated by Dr. Amal Al ‎Taneiji from the Sheikh Khalifa Medical City.‎

 

In the opening talk, Dr. Fathiya Al Murshedi provided the participants with an ‎overview of inborn errors of metabolism, especially with regard to their ‎common mechanisms of these diseases, their differing presentations, and ‎diagnosis and management strategies. Following this, Dr. David Kasper, talked ‎about the screening and diagnosis of a subtype of metabolic disorders, ‎metachromatic leukodystrophy. He presented the results of his team's pilot ‎newborn screening study for this disorder using sulfatides as biomarkers.‎

 

The first webinar in this series focused on the genomics of infectious ‎diseases, ‎and was followed by webinars on the topics of population ‎genetics, gene ‎therapy, big data in genomics, and genetic counseling