Diana Alasmar

Title: The results of the genetic study of unexplained family deaths in some syrian cases

Abstract:

Syrian families show high consanguinity frequency and we encounter many unexplained family deaths in consultation, whole exome sequencing has been used to diagnose such unexplained situations in 7 Syrian families, 6 families present more than two muted genes in the parent studies, index cases have 2 or more homozygotes significant mutations for 2 relevant inherited disease at the same time in two families. These results make genetic counseling for future grosses and PGD more complicated.

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.