Abstract:
Inborn errors of metabolism are numerous and have a great variety of presentation; Genetic testing can help reach a diagnosis faster and Identifying treatment options. Exome or genome sequencing was useful in such cases.
This presentation is to provide an idea of our experience using whole exome sequencing in the diagnosis and management of 20 cases with neuro-metabolic symptoms and special morphological manifestations.
Biography:
Dr. Diana Alasmar is a staff academic member who believes that medical education should be a professor's first priority. She specializes in inborn errors of metabolism and has expertise in the rare pediatric endocrine disease. Awarded from the Junior Chamber International JCI Syria in 2019 for her effort on medical education and neonatal screening awareness in Syria, Dr. Alasmar has been published in both the Annals of Saudi Medicine and the Gene. She holds a medical degree from the Medical University of Damascus Syria, she completed a postdoctoral fellowship in the field of Inborn Errors of Metabolism in Lyon France.
