Rita Horvath

Professor of Neurogenetics

John Walton Muscular Dystrophy Research Centre
Newcastle University
International Centre for Life
Newcastle upon Tyne

Rita Horvath is a clinical academic who was trained as a neurologist in Budapest, Hungary. She started laboratory research in Professor Eric Shoubridge`s laboratory at the Montreal Neurological Institute and completed her PhD on mitochondrial disease. She has been working in mitochondrial diagnostic and research in Munich before 2007, when she was appointed as Lecturer in the Mitochondrial Research Group at Newcastle University. She has established her own research group on mitochondrial translation deficiencies and obtained substantial funding from the MRC and ERC. Rita has been promoted to Professor of Neurogenetics in 2013. As a clinician, she developed a new service in Newcastle and follow up a large number of patients with inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT), which is a base for expanding research activities. The main focus of her research is to identify the molecular basis of disease with the aim of developing treatments for patients with rare inherited neurological conditions, such as mitochondrial disease and CMT.

Key publications

  1. Boczonadi V, Müller V, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S and Horvath R. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nat Commun 2014;5:4287.
  2. Taylor RW*, Pyle A*, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AAM, Vassallo G, Gorman GS, Turnbull DM, Ramesh V, Santibanez-Koref M, McFarland R, Horvath R*, Chinnery PF*. Whole exome sequencing defines the genetic basis of multiple mitochondrial respiratory chain complex deficiency. JAMA 2014;312(1):68-77.
  3. Hermann DN*, Horvath R*, Sowden JE, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmüller H, Griffin H, Chinnery PF, Gonzales M, Sanchez-Mejias A, Lloyd TE, Littleton JT, Zuchner S. Mutations in Synaptotagmin 2 cause an autosomal dominant form of Lambert-Eaton myasthenic syndrome and non-progressive motor neuropathy. Am J Hum Genet 2014;95:332-339.
  4. Boczonadi V, Smith PM, Pyle A, Gomez-Duran A, Schara U, Tulinius M, Chinnery PF, Horvath R. Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency. Hum Mol Genet. 2013;22:4602-4615.
  5. Kemp JP*, Smith PM*, Pyle A, Neeve VCM, Tuppen HAL, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Taylor RW, Horvath R. Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency Brain 2011;134:183-195.
  6. Horvath R, Kemp JP, Tuppen HAL, Hudson G, Oldfors A, Marie SKN, Moslemi A-R, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Çoku J, Günther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Hirano M, Lochmüller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S. Molecular basis of infantile reversible COX deficiency myopathy, Brain 2009;132:3165-3174.