Ali H. Bereshneh, PhD, is currently a post-doctoral fellow in the Department of Molecular and Human Genetics at Baylor College of Medicine. He obtained an MSc in Human Genetics from Tehran University of Medical Sciences (TUMS) in 2016 and a PhD in Medical Genetics, with a focus on molecular neurogenetics and rare genetic disorders, from the Faculty of Medical Sciences, TMU, Iran, in 2020. He then served as the Director of the Prenatal Diagnosis & Medical Genetics Lab at the Prenatal Diagnosis and Genetic Research Center at Shiraz University of Medical Sciences until October 2022. Their efforts led to the establishment of a comprehensive Rare Neurogenetic Disorders Registry for Iran and the identification of causative genes/variants in individuals with diverse ultra-rare neurodevelopmental and neuromuscular conditions. He joined the laboratories of Drs. Hugo Bellen and Oguz Kanca at Baylor College of Medicine in November 2022. Since then, he has been studying rare and undiagnosed disorders using sequencing data, bioinformatic analyses, molecular dynamics simulations, and especially animal modeling. His research focuses on generating "humanized"Drosophila models—genetically modified animals that contain human gene(s)—to study human biology and diseases. They also generate mutant Drosophila strains of orthologous genes, explores the phenotypes of the mutants, and studies the affected molecular pathways to aid in gene discovery. He has also served as a biocurator for the ClinGen Severe Combined Immunodeficiency Disease (SCID) Variant Curation Expert Panel and the ClinGen Prenatal Gene Curation Expert Panel.
He is honored to accept the ACMG Foundation for Genetic and Genomic Medicine 2025 David L. Rimoin Inspiring Excellence Award.