A SYSTEMS BIOLOGY APPROACH TO SCREENING, DIAGNOSIS AND PROGNOSIS FOR LYSOSOMAL STORAGE DISORDERS [ 2009 - 2011 ]

Research Grant

Researchers: Prof John Hopwood (Principal investigator) ,  A/Pr Maria Fuller ,  Dr Caroline Dean ,  Prof Douglas Brooks ,  Prof Peter Meikle

Brief description Lysosomal storage disorders (LSD) are inherited and, at present, can only be detected in children after symptoms are obvious. We are developing newborn screening for LSD to detect affected babies before the onset of irreversible symptoms. As most LSD babies appear normal at birth it is important to be able to predict disease severity or rate of disease progression; this will help doctors know when to give therapy, which therapy is best and provide families with appropriate genetic counseling.

Funding Amount $AUD 900,781.38

Funding Scheme NHMRC Project Grants

Notes Standard Project Grant