Maha S. Zaki

Maha S. Zaki is a prominent researcher affiliated with the Clinical Genetics Department at University College London, with a career spanning prestigious institutions such as the National Research Centre in Egypt, Cairo University Hospitals, and the Armed Forces College of Medicine. Her work focuses on the genetic basis of neurodevelopmental and mitochondrial disorders.

• Human Genetics and Genome Research Institute (Egypt)
• UCL Queen Square Institute of Neurology
• National Institute of Neuromotor System, Giza

Her research explores genetic variants contributing to conditions like Leigh syndrome, Aicardi-Goutières syndrome, and congenital heart defects, often utilizing interdisciplinary approaches in neurogenetics and molecular biology.

Recent publications highlight her expertise in biallelic gene variants and their phenotypic expression, with collaborations spanning Egypt, the UK, and the US. Funding from organizations like the NIH and Wellcome Trust underscores her global impact.

• Identified novel genetic associations in neurodevelopmental disorders
• Developed clinical insights for mitochondrial disease diagnostics
• Advanced understanding of ciliopathies and congenital syndromes

Zaki’s work bridges clinical genetics and basic research, emphasizing translational applications for improved patient outcomes.