The aim of this proposal is to evaluate a novel therapy option for children with a genetic disorder called mucopolysaccharidosis (MPS). MPS arise from the build up of complex carbohydrates in cells within the body due to the deficiency of an enzyme required for their degradation. By decreasing the synthesis of carbohydrate we can manipulate the level of stored carbohydrate and alleviate the pathology associated with MPS. The novel therapy is based on a chemical modification of glucose that inhib ....The aim of this proposal is to evaluate a novel therapy option for children with a genetic disorder called mucopolysaccharidosis (MPS). MPS arise from the build up of complex carbohydrates in cells within the body due to the deficiency of an enzyme required for their degradation. By decreasing the synthesis of carbohydrate we can manipulate the level of stored carbohydrate and alleviate the pathology associated with MPS. The novel therapy is based on a chemical modification of glucose that inhibits carbohydrate synthesis and is termed substrate deprivation therapy.Read moreRead less
The Cause Of Undescended Testis And Inguinal Hernia
Funder
National Health and Medical Research Council
Funding Amount
$743,848.00
Summary
This study aims to define in both animal models and children how the testis descends from the abdomen to scrotum, and how undescended testis and inguinal hernia are likely to be caused by defects in the same, very indirect signalling pathway. The results will demonstrate where to look for genetic causes and proof of principle for possible future medical treatments for the 3 commonest major operations in children for congenital and acquired undescended testis and inguinal hernia.
The Limb Bud As A Model For Gubernacular Migration During Inguinoscrotal Testicular Descent.
Funder
National Health and Medical Research Council
Funding Amount
$439,073.00
Summary
This project examines the mechanism of descent of the testes from its original position inside the abdomen of the fetus to the scrotum in baby boys. When this process is abnormal, it leads to the common anomaly of undescended testes. Tha ultimate aim is to understand the process well enough to consider nonoperative treatment. The study will look at the tip of the gubernaculum, the ligament that anchors the testis to the groin early in development, and how it develops a growing tip that elongates ....This project examines the mechanism of descent of the testes from its original position inside the abdomen of the fetus to the scrotum in baby boys. When this process is abnormal, it leads to the common anomaly of undescended testes. Tha ultimate aim is to understand the process well enough to consider nonoperative treatment. The study will look at the tip of the gubernaculum, the ligament that anchors the testis to the groin early in development, and how it develops a growing tip that elongates towards the scrotum. The project will examine the factors controlling this process as well as the embryological mechanism involved.Read moreRead less