Aetiology and pathobiology of inherited cardioskeletal muscle diseases

Homa Tajsharghi

To: University of Western Australia (UWA)

From: University of Skövde

Project abstract

Neuromuscular disorders vary in severity, from paralysis at birth to relatively mild effects on life expectancy. Cardiomyopathy is a life threatening disease and the most common cause of cardiac sudden death in young people. The aetiology of diseases, and the ability to relate these to clinical symptoms, is important for correct diagnosis, including prenatal diagnosis, prognosis, and development of effective therapies. It also allows for optimal care of the patient and risk stratification of relatives, and for early diagnosis or the ability to avoid unnecessary and costly disease screening.

The front line in research on inherited neuromuscular and cardiac diseases is at present to define the genetic background in a fast, comprehensive, and cost-efficient manner. Further, research on pathogenesis of these diseases, and research on specific treatment is an emerging field.

The proposed project is a collaboration between Swedish organisations (HIS and GU) and Australia (UWA) to combine world-leading expertise to identify the aetiology and pathogenesis of muscle diseases. The current project aims to establish target enrichment followed by next generation sequencing for the fast, comprehensive and cost efficient genetic diagnosis of cardioskeletal myopathies, and to combine clinical genetics with laboratory studies on muscle tissue to further our understanding of the pathogenesis of this group of inherited muscle diseases. This is basis of diagnosis, correct prognosis and new therapeutic strategies. In the long term, this multidisciplinary collaboration will lead to expanded genetic database of cardiac and skeletal muscle diseases and defining the disease-causing mechanisms, which will provide a template for development of relevant therapies. It will also benefit the further career development and academic qualifications of the applicant, in an international research environment and result in long-term cooperation and increased mobility between universities.