Inherited muscle disorders - gene discovery, pathobiology and therapy. [ 2006 - 2010 ]

Also known as: Finding the genes for inherited muscle diseases, understanding the disease mechanisms and developing treatment.

Research Grant

[Cite as]

Researchers: Prof Nigel Laing (Principal investigator) ,  Dr Kristen Nowak Prof Kathryn North

Brief description The project proposed by Professors Nigel Laing and Kathryn North and Dr Kristen Nowak is based upon the results of their successful identification of disease genes for genetic muscle diseases. The project is divided into three parts. In the first part of the project, the research team will identify further novel disease genes, some of which they are already close to finding. In the second part of the project the team will determine how the mutations they have identified in the disease genes actually cause the diseases. The aim of this work is to discover targets that may ultimately lead to new therapies for these muscle diseases. In the third and final part of the project, the team will pursue one possible therapeutic approach, which is based upon the understanding of the diseases the researchers have gained from their previous studies. There are currently no cures for these muscle diseases, though symptoms can be treated. The team will determine whether heart actin can replace muscle actin in skeletal muscle and thus might treat the muscle disease.

Funding Amount $AUD 1,750,277.24

Funding Scheme NHMRC Project Grants

Notes Standard Project Grant

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