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Aetiology and pathobiology of inherited cardioskeletal muscle diseases

Homa Tajsharghi. From: University of Skövde, to: University of Western Australia (UWA).

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.

Project Summary Results

The proposal intended:

1) To develop the link between two of the world-leading groups in the muscle research for long-standing collaboration;

2) To reinforce the knowledge based in these milieus and use the existing expertise to forward understanding of muscle diseases and to strengthen Swedish research profile in the world muscle society;

3) To gain novel academic and technical assistance on the establishment of well developed targeted Next Generation Sequencing (NGS) technique for the fast, comprehensive and cost-efficient molecular genetic diagnostics of cardiac and skeletal muscle diseases needed in clinical practice;

4) To actively participate and promote strategies of cross-border higher education and long-term research cooperation of the host milieu.

Results from the last 6-months-period:

1) I have continued to actively take part in many networks in UWA lead by Professor Nigel Laing, which is the world-leading network in the field of muscle disease research. We have weekly meeting with the groups of genetics, clinician and disease-models. We also have weekly international on-line meeting with leading groups of muscle disease researchers. This has been one the most important outcomes of my stay here in UWA hopefully will lead to long-standing collaboration with the world-leading groups.

2) I continued established and on-going collaboration with other researchers here at UWA in the field of stem cell and regeneration techniques and we have on-going experiment and publication. We have initiated a broader collaboration and planning for a synergy application of ERC in collaboration with researchers at the University of Barcelona, Spain, leading by Dr M.Edel,PhD, who is an expert in pharmacology use of iPSC and head of Control of Pluripotency Laboratory, Dep of Biomedicine.

The outcomes of this collaboration have major impact on a better understanding of muscle diseases and it will ultimately strengthen Swedish research profile in the field of muscle research.

Senast uppdaterad: 2017-04-07 18:32