Dr. Afif Ben-Mahmoud is an accomplished geneticist and genome data analyst with extensive expertise in human molecular genetics. He earned an engineering degree in agriculture and animal production, a master's in genetics and biodiversity, and a Ph.D. in molecular and human genetics. With over 12 years of experience in research and academia, Dr. Ben-Mahmoud has dedicated his work to elucidating cellular and molecular mechanisms underlying human genetic diseases, focusing on identifying disease genes and mutations responsible for rare recessive disorders, particularly in Arab populations.

His professional contributions in genetic pathology span from phenotypic and genotypic characterization of patients with monogenic diseases to functional studies aimed at demonstrating the pathogenicity of disease-causing novel genes and gene variations. Throughout his career, he has led numerous projects aimed at decoding rare human monogenic diseases, significantly advancing the field. His notable accomplishments include the first functional analysis of B3GALTL in Tunisian patients with Peters Plus Syndrome, the identification of MAST1 as a novel intellectual disability gene and confirming the role of B3GALT6 in Al-Gazali Syndrome. Additionally, he has identified 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders and new candidate loci for intellectual disability and Kallmann syndrome. In total, Dr. Ben-Mahmoud has published 25 high-quality articles in renowned international peer-reviewed journals, with over 500 citations and an h-index of 14. His work continues to be invaluable to the medical community, advancing the understanding of the relationship between genes and human diseases.