Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.


Prof Andrea Németh is a Clinician Scientist at the University of Oxford, and a Consultant in Neurogenetics at the Oxford University Hospitals NHS Trust. She trained at the Royal Free Hospital School of Medicine, and also undertook an intercalated BSc in Biochemistry and Neuropharmacology at the Royal Free and University College London. She then moved to Professor Kay Davies lab in Oxford as an MRC Clinical Training Fellow, completing her DPhil at the University of Oxford in 1995. Following this she was awarded a prestigious MRC Clinician Scientist Fellowship which she did at the Wellcome Trust Centre for Human Genetics in Oxford. During this time  she developed a particular her interest in ataxias and other movement disorders, going on to characterise several novel genetic ataxia syndromes. Prof Nemeth completed her clinical training in Genetics whilst a Clinical Lecturer at the University of Oxford, before becoming a Consultant in Neurogenetics and joining the NDCN. In addition to MRC funding, her research has been funded by Ataxia UK, Action Medical Research, the Henry Smith Charity, the John Fell Fund, the Oxford Biomedical Research Centre, NIHR, the European Huntingtons Disease Network and Enroll-HD.

Andrea H Németh

BSc; MB.BS; DPhil (Oxon); FRCP

Professor and Consultant in Neurogenetics

Understanding brain function from genomic data

Research Interests

The main focus of my research is to understand the genetic basis of central nervous system development and disease, A key area is the study of cerebellar ataxias, but this work also encompasses other movement disorders such as dystonia, Parkinsonism and chorea as well learning disability, epilepsy and spasticity. 

Early work used positional cloning approaches to identifying novel genes associated with neurological disorders but this methodology has largely been replaced with next generation sequencing (NGS) and my lab was the first to identify mutations causing a cerebellar ataxia (SCAR14) using whole genome sequencing.

My lab went on to develop NGS for diagnostics in ataxias and retinal degeneration (Nature Reviews Neurology - view article here and Neurology Today - view article here) and led to its introduction into the NHS Oxford Regional Molecular Genetics Laboratories.

NGS also enabled the identification of the first patients with a clinical diagnosis of ataxic cerebral palsy  which has contributed to an emerging field of molecular diagnostics for this complex condition. 

More recently, my lab has identified several new cerebellar ataxia disorders including those associated with mutations in EBF3, GRM1 and ITPR1 as well as a recent collaboration identifying mutations in PPP2R5D causing intellectual disability with early-onset ParkinsonismCurrently, we are focussing on further data emerging from the 100,000 Genomes project. 

The collection of neurogenetic patient cohorts has led to several collaborative studies on biomarkers including developing objective smart phone-based gait biomarkers in collaboration with Prof Helen Dawes team at Oxford Brookes University; investigating imaging biomarkers for FRDA in collaboration with Prof Paola Giunti and team at UCL, London; and investigating small molecule treatment for FRDA in collaboration with Prof Richard Wade-Martins, DPAG, Oxford  (funded by LifeArcUK). We are also  part of the Huntington Disease HD Generation clinical trial (

Other interests include improving human cellular models of the neurogenetic disorders we have identified, using CRISPR/Cas9 gene editing in human embryonic stem cells, to understand how mutations lead to abnormal brain development and function.

Key publications

Recent publications

More publications