Faculty of Medical Sciences

Staff Profile

Professor Rita Horvath

Professor of Neurogenetics


Personal Biography

I studied medicine at the Semmelweis Medical School in Budapest. As I was passionate about combining clinical work and research, I started my career as a Clinical Research Fellow at the Hungarian Academy of Sciences. I received funding from the Soros Foundation to do research in mitochondrial diseases with Professor Eric Shoubridge in the Montreal Neurological Institute, which determined the direction of my career ever since. After my return to Budapest, I introduced genetic testing for mitochondrial disease in Hungary, completed my PhD on mitochondrial encephalomyopathies and became a consultant in neurology.

I moved to Munich, Germany in 1999 and started research in mitochondrial diseases in a laboratory associated to a clinical service and to the university in Munich. I subsequently moved to the MGZ Munich and established a new mitochondrial genetic diagnostic service.

In 2007 I moved to the UK to take up the position of Lecturer in Mitochondrial Disease at Newcastle University, and was promoted to Senior Lecturer in 2010. I successfully developed my own research and secured research funding in the UK. As a clinician I have established a new service in Newcastle for patients with inherited peripheral nerve disease (Charcot-Marie-Tooth disease, CMT), which can be a basis of future research.

Research Biography

I started my research career in 1995 focusing on clinical characterisation of mitochondrial diseases (such as Leber’s hereditary optic neuropathy). In 2000-2007 my research was based on a diagnostic service in Munich, and I focused on identifying the primary cause in a high number of patients with different types of mitochondrial disease, but also to study basic disease mechanisms. Based on my diagnostic experience in Germany I was able to define the phenotype of a group of patients, small children exhibiting severe mitochondrial disease due to mitochondrial translation defects or coenzyme Q10 deficiencies, which has become my research area more recently.

Research Interest

The main focus of my research is to identify the molecular basis of disease and to develop treatments for patients with mitochondrial encephalomyopathies. The underlying genetic defect in many of these patients remains unknown and there are no effective treatments. One direction of my research is to study a large group of children with severe mitochondrial disease to identify novel disease genes. I have recently received funding for studying a unique mitochondrial condition: reversibe infantile cytochrome c oxidase (COX) deficiency. Most mitochondrial diseases are progressive conditions however this syndrome stands out by showing spontaneous recovery. Finding a clearly pathogenic homoplasmic mtDNA mutation in this reversible mitochondrial disease offers a new paradigm of mtDNA pathogenesis. My research focuses on studying this unique disease to unveil factors that are important in other mitochondrial disease. A better understanding of the compensatory factors will offer important clues towards molecular therapies.

As a clinican, I have started and developed a new clinical service over the last 3 years in Newcastle for a large group of patients with inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT). The better characterisation of the clinical phenotypes, the improvement of next generation sequencing techniques enables us to identify the primary genetic cause in a much higher number of patients with CMT. This patient cohort will be a base for expanding my research activities and the base of further grant applications to start a new area of research in Newcastle.

Research Projects

Rita’s research project is listed below. Click on the link to learn more.

  • Studying the underlying cause and molecular mechanisms of childhood-onset combined respiratory chain deficiencies.

Recent Developments

Recently I received substantial funding from the European Research Council (ERC) to study basic mechanisms of mitochondrial translation.

Awards, honours and professional service

  • 1988 M.D. Semmelweis Medical University, Budapest, Hungary
  • 1992 neurology Semmelweis Medical University, Budapest, Hungary
  • 1995 Soros Foundation, fellowship, Montreal Neurological Institute, Montreal, Canada
  • 2000 PhD Hungarian Academy of Sciences
  • 2006 Felix-Jerusalem Prize for outstanding research in muscle disease, Germany

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