Assoc. Prof. Dr. Alina Esterhuizen |  Neurogenetics | Research Excellence Award

UCT/NHLS | South Africa

A translational research program focused on molecular human genetics integrates advanced diagnostics with applied research to improve clinical care in resource-constrained settings. Research centers on the genetics of neurodevelopmental and neurodegenerative disorders, with particular emphasis on paediatric epilepsies and neuromuscular diseases. Major projects have investigated the genetic causes of complex childhood epilepsies in South Africa, contributing to precision management strategies and locally appropriate genetic testing pathways. This work has generated translatable outputs, including evidence-based testing strategies for early-onset epilepsy, decision trees for specialist referral, and improved diagnostic approaches for Duchenne muscular dystrophy aligned with emerging gene-based therapies. Research activities also include innovation and development of new molecular methods and protocols for clinical implementation, bridging discovery and diagnostic practice. Methodologies span next-generation sequencing, chromosomal microarray analysis, MLPA, triplet repeat testing, and variant interpretation frameworks tailored to diverse populations. Funded projects have supported the expansion of locally relevant genetic services and the study of founder and population-specific variants. Collectively, the research emphasizes capacity building, equitable access to genetic diagnosis, and the translation of genomic advances into sustainable clinical services, with a strong commitment to improving outcomes for patients with rare and complex genetic disorders across Africa.

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