Majid Alfadhel

Medical Genetics

Prof. Majid Alfadhel is a distinguished pediatrician and geneticist serving as Deputy Executive Director of KAIMRC, Chairman of Genetics and Precision Medicine, and Professor at KSAU-HS. A pioneer in his field, he has contributed to discovering over 70 novel genes linked to human diseases. Notably, he discovered two genetic syndromes registered in the OMIM database: Alfadhel syndrome and Umair-Alfadhel Neurodevelopmental disorder. Beyond clinical discoveries, Prof. Alfadhel is a dedicated educator, the founder and editor-in-chief of the Journal of Biochemical and Clinical Genetics, and has authored three books alongside over 250 high-impact publications. Driven by healthcare innovation, he also created the "IEM Drugs" mobile application to treat inborn errors of metabolism. His global contributions earned him two prestigious awards: the Canadian College of Medical Geneticists Founders' Award for Career Achievement in 2024 and the Arab Award in Genetics in 2025.