Uncovering the Genetic Architecture of Pediatric Neurological Disorders in the Palestinian Population: A Retrospective Cross-Sectional Study
Supervisor Name
Nadirah Damseh
Supervisor Email
Nadirahgene@gmail.com
University
Al-Quds University
Research field
Medical Sciences
Bio
Dr. Nadira Daamsah is a pediatrician specializing in clinical genetics and inherited metabolic disorders, affiliated with Al-Quds University Faculty of Medicine and Al-Makassed Hospital in Jerusalem. Her clinical and research interests focus on rare genetic diseases, inherited metabolic disorders, genomic sequencing, and genetic counseling. She has contributed to scientific publications and supervised medical research projects aimed at improving the diagnosis and understanding of inherited diseases in the Palestinian population.
Description
This multicenter, retrospective cross-sectional study aims to investigate the genetic basis of pediatric neurological disorders in the Palestinian population using clinical and genetic records collected between 2020 and 2025 from selected genetics clinics and hospitals across Palestine. The study will characterize patients’ demographic and clinical features, identify frequently reported disease-associated genetic variants, assess their geographical distribution, and evaluate consanguinity among patients with autosomal recessive neurogenetic disorders. The findings may help improve understanding of the genetic landscape of pediatric neurological disorders in Palestine and support the development of a phenotype-based framework to guide targeted genetic testing.