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.