Projects
MYO-PATHOGENESIS
project name: Gene discovery and disease pathogenesis in the inherited myopathies
initiating country: The European Union
Framework Programme: FP6 programme area: MC – Marie Curie Actions contract type: MCOIF – Marie Curie Outgoing International Fellowship
contract/proposal/call number: 39762
status: active
start date: May 2007 duration: 36 months projected finish date: May 2010
Keywords
keywords: gene; sarcomere; calcium homeostasis; contraction; inherited myopathies; physiopathology
Project Budget
total budget: € 212,090
Participants
Note that the follow people may not represent the full extent of the consortium. FEAST has tried to identify the Australian participants, and their collaborators (or coordinator), within the project. Also note that Australian participation may not necessarily be on a formal level.
| name | organisation | state or country |
|---|---|---|
| Inserm | France | |
| The Children’s Hospital at Westmead | NSW, Australia |
Further information
summary:
The proposed project for Dr Aurélie Vandebrouck builds upon discoveries in the Institute for Neuromuscular Research (INMR) and Institut de Myologie (IM) and is designed to take advantage of the existing collaboration between the two centres, the unique resources of DNA and muscle samples collected over the past decade, and the expertise available in the two centres in gene discovery, production of mutant proteins, tissue culture and animal models.
Researchers in both Institutions, and others, have identified disease genes for inherited myopathies. Nevertheless, many disease genes remain to be identified, and the pathobiology of the identified mutations remains largely obscure.
In this project, Dr Vandebrouck will contribute to the gene discovery work and investigate further the molecular mechanisms resulting in muscle weakness observed in inherited myopathies. Inherited myopathies are a diverse group of muscle disorders due to mutations in different genes.
The study will focus principally on the identification of new disease genes and the study of mechanisms underlying muscle weakness for inherited congenital myopathies: particularly nemaline myopathy, congenital fibre type disproportion, and central core disease.
This research will have immediate application to clinical practice in terms of diagnostic accuracy, genetic counselling and prenatal diagnosis. In addition, it will provide new and important information concerning normal skeletal muscle biology and disease pathogenesis, as the basis for the development of specific therapies.
Source: European Commision
