People Biography

Biography

Dr. Afif Ben-Mahmoud holds expertise in the field of human molecular genetics, with years of experience in research and academia. He holds an Engineering degree in animal production, a Master's in genetics and biodiversity, and a Ph.D. in molecular and human genetics.

Dr. Ben-Mahmoud's research focuses on elucidating the cellular and molecular mechanisms underlying human genetic diseases, and on identifying disease genes and mutations responsible for rare recessive disorders in Arab populations. He has published over 20 original articles in top-tier international peer-reviewed journals.

Significant accomplishments include performing the first B3GALTL functional analysis in Tunisian patients with Peters Plus Syndrome, identifying MAST1 as a novel intellectual disability disease gene, confirming the involvement of B3GALT6 in the pathogenesis of Al-Gazali Syndrome, and identifying 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders. All this new research has broadened the understanding of genetic diseases and has been of immense help to the medical community.