Identifying the molecular basis of disease

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 Interests

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.