Research Spotlight No. 4

Genetic Map of Rare Pediatric Neurological Disorders

Continuing the series of research highlights from Beni Suef University under the auspices of the University President, we spotlight today a significant medical achievement from the Faculty of Medicine. A research team from the Department of Pediatrics—comprising Dr. Mahmoud Mahmoud Nour El-Din (first author) and Dr. Aida Mohamed Said Salem (corresponding author)—in collaboration with a team from the National Research Center including Prof. Dr. Maha Saad Zaki, Dr. Karima Raafat, and Prof. Dr. Mohamed Abdel Hamid, successfully published a pioneering study titled:
"The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants."

The study investigates, for the first time, genetic white matter disorders in children in Beni Suef and Upper Egypt—conditions that affect the nervous system and cause motor and cognitive deterioration. Over five years, researchers analyzed clinical and genetic data from 142 children, identifying the genetic patterns of these disorders in the region. Remarkably, the study discovered 31 novel genetic variants not previously reported worldwide, adding significant value to global genetic databases.

This study provides the first practical framework for establishing a national registry for these rare disorders in Egypt, contributing to more accurate diagnoses and offering genetic counseling to families to reduce the incidence of diseases linked to consanguineous marriages (which accounted for 77.4% of cases in the study). This aligns with the goals of presidential initiatives and Egypt Vision 2030 in public health and disability prevention.

The research was published in June 2025 in the Italian Journal of Pediatrics, a prestigious international journal issued by BMC (Springer Nature). The journal is ranked in the first quartile (Q1) according to Scopus, within the top 13% of pediatrics journals, and is indexed in the Science Citation Index Expanded with an impact factor of 3.1.

Published study link: [https://doi.org/10.1186/s13052-025-02031-6]


English Brief Researchers from the Faculty of Medicine at Beni-Suef University have published a landmark study characterizing the landscape of Genetic White Matter Disorders (GWMDs) in Upper Egypt for the first time. The study, conducted on 142 pediatric patients, identified 31 novel genetic variants never reported before. The findings highlight the impact of consanguinity on these rare disorders and provide a foundational framework for establishing a national registry. This research was published in 2025 in the Italian Journal of Pediatrics, a prestigious open-access journal published by BMC (Springer Nature) and ranked Q1 in Web of Science.
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