Identification Of Genes For Non-syndromic Intellectual Disability And Walker-Warburg Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$399,984.00
Summary
Mental retardation (MR) affects 3% of people and the cause is still largely unknown. Walker-Warburg syndrome (WWS) is an inherited cause of severe MR that also includes eye and muscle disease. Recent studies suggest that there are at least ten WWS genes. This project will identify MR and WWS genes by searching for gene alteration (mutations) that affected families have in common. Knowledge of the genetic causes will lead to better understanding of normal brain development and therapies.
The Influence Of Alpha Actinins On Human Performance In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$480,989.00
Summary
We have identified a common genetic variation that results in absence of the fast muscle fibre protein, a-actinin-3, in over 1 billion people worldwide. Loss of a-actinin-3 influences elite athletic performance and skeletal muscle function in the general population by altering efficiency of muscle metabolism. We will now study mice and humans to determine how a-actinin-3 deficiency influences normal muscle function with age, response to exercise and the severity of human muscle disease.