Dr. Alina Esterhuizen | Neurogenetics | Research Excellence Award

UCT/NHLS | South Africa

Dr. Alina Esterhuizen is a professionally registered medical scientist specializing in Molecular Human Genetics, Neurogenetics with a strong dual focus on translational research and molecular diagnostic service leadership. Her expertise lies in integrating advanced genomic research into routine clinical diagnostics, ensuring that scientific discoveries directly improve patient care. She has extensive experience in clinical genetic testing, quality management systems, validation and implementation of new diagnostic protocols, and the continuous enhancement of laboratory standards within accredited healthcare environments. Her research centers on the genetics of neurodevelopmental and neurodegenerative disorders, with particular emphasis on paediatric epilepsies and neuromuscular diseases. She has contributed significantly to understanding the genetic architecture of complex epilepsy in African paediatric populations, advancing the identification of pathogenic variants and improving diagnostic yield in underrepresented groups. Her work also includes mutation profiling in Duchenne muscular dystrophy, supporting the development and application of emerging gene-based therapeutic approaches. Beyond research and diagnostics, she is actively engaged in teaching, mentorship, and supervision of students and laboratory professionals. She is deeply committed to strengthening local genomic capacity and promoting equitable access to genetic testing services across Africa, ensuring that precision medicine becomes accessible to diverse and historically underserved populations.

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