Andrea H Németh

Professor Andrea H Németh is a Clinician Scientist at the University of Oxford and a Consultant in Neurogenetics at the Oxford University Hospitals NHS Trust. She holds qualifications including BSc, MB.BS, DPhil (Oxon), and FRCP, and specializes in neurogenetics research focused on understanding the genetic basis of central nervous system development and disease.

Her primary research interests include cerebellar ataxias and other movement disorders such as dystonia, Parkinsonism, and chorea, as well as learning disability, epilepsy, and spasticity. Early in her career, she used positional cloning approaches to identify novel genes associated with neurological disorders, but has since transitioned to next-generation sequencing (NGS) methodologies. Her lab was the first to identify mutations causing cerebellar ataxia (SCAR14) using whole genome sequencing and developed NGS for diagnostics in ataxias and retinal degeneration, leading to its introduction into NHS laboratories.

Professor Németh's recent work has identified several new cerebellar ataxia disorders associated with mutations in EBF3, GRM1, and ITPR1, as well as collaborating on research identifying PPP2R5D mutations causing intellectual disability with early-onset Parkinsonism. She is currently focusing on data from the 100,000 Genomes Project and leads multiple collaborative biomarker studies, including smartphone-based gait analysis with Oxford Brookes University, imaging biomarkers for Friedreich's ataxia with UCL, and small molecule treatments for Friedreich's ataxia with DPAG, Oxford. Her research has been funded by multiple organizations including MRC, Ataxia UK, Action Medical Research, and the European Huntington's Disease Network.

She is also involved in the Huntington Disease HD Generation clinical trial and works on improving human cellular models of neurogenetic disorders using CRISPR/Cas9 gene editing in human embryonic stem cells to understand how mutations lead to abnormal brain development and function.