Neurodevelopmental disorders in Saudi Arabia: A new era of precision diagnosis and personalized management

Neurodevelopmental disorders (NDDs) represent a significant public health challenge worldwide, and Saudi Arabia is no exception. With a unique population structure characterized by high rates of consanguinity, the Saudi population presents a distinct genetic landscape for NDDs. In this presentation, we explore the evolving approach to diagnosing and managing NDDs in Saudi Arabia, highlighting the transition from conventional clinical evaluations to precision medicine strategies. Advances in genomic technologies, particularly next-generation sequencing (NGS), have greatly improved diagnostic yields, enabling earlier and more accurate identification of underlying genetic causes. We will discuss real-world data on the prevalence, genetic findings, and clinical features of NDDs in Saudi patients, and address challenges such as access to specialized care, genetic counseling, and societal awareness. Furthermore, we will showcase emerging personalized management strategies, including targeted therapies, multidisciplinary care models, and early intervention programs. By integrating genomics with clinical practice, Saudi Arabia is entering a new era where early diagnosis and individualized management can significantly improve patient outcomes and quality of life. This presentation aims to shed light on current progress, gaps in care, and future directions for advancing NDD care in the region.

Dr. Muhammad Umair does research in Human Molecular Genetics, specifically "rare genetic disorders." His current projects include “Genetics and Rare Disease Programme,” “Genetic and Functional Characterization of Rare Skeletal Disorders (GSDs),” “Genodermatosis,” and “Therapeutic Genomics.”