Email: rita.horvath@ncl.ac.uk

Research profile and key clinical specialties

I started my research career in 1995 on the clinical characterisation of mitochondrial diseases.

In 2000-2007 my research was based on a diagnostic service in Munich, and I focused on identifying the primary cause in patients with different types of mitochondrial disease. I defined the phenotype, genetic cause and basic disease mechanisms of several severe childhood onset mitochondrial diseases due to mitochondrial translation defects, which has become my research area more recently.

We study the reasons behind tissue specificity of mitochondrial diseases and focus on neuronal cell types and zebrafish models of mitochondrial respiratory chain deficiencies with the aim of developing therapy for patients with mitochondrial disease.

As a clinician, I developed a new clinical service in Newcastle for patients with inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT). The better characterisation of the clinical phenotypes and the improvement of next generation sequencing techniques resulted in a genetic diagnosis in a much higher number of patients.

Current research projects in my laboratory include exploring novel molecular targets in mitochondrial protein synthesis to develop treatments in mitochondrial disease funded by the Wellcome Trust Investigator Award (109915/Z/15/Z); ‘œReversibility and tissue specificity of mitochondrial translation defects in early childhood’.

Two key publications

• 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, 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.
• 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 (joint last author), Chinnery PF. JAMA 2014;312(1):68-77.

Possible PhD projects

• Exploring novel molecular targets in mitochondrial protein synthesis to develop treatments in mitochondrial disease.

More information

Since first academic position in 2007 has supervised 10 PhD students.

Keywords: Mitochondrial, diseases, CMT, tooth, oral, childhood, Rita, Horvath, Newcastle

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