Biography
I am a specialist in managing rare genetic metabolic conditions, having designed the original investigator led studies leading to the marketing of a novel product for the treatment of glycogen storage diseases, as part of my post-graduate MD (res) qualification in the UK.
I continue clinical research projects in several inborn errors of metabolism, allied to the New South Wales newborn screening programme and have developed novel therapeutic...view more
I am a specialist in managing rare genetic metabolic conditions, having designed the original investigator led studies leading to the marketing of a novel product for the treatment of glycogen storage diseases, as part of my post-graduate MD (res) qualification in the UK.
I continue clinical research projects in several inborn errors of metabolism, allied to the New South Wales newborn screening programme and have developed novel therapeutic strategies for rare genetic metabolic conditions. I continue research collaborations across Australia and the world to better identify and manage rare genetic conditions.
My Qualifications
MBBS
MRCP
MRCPCH
MD (res)
FRACP
My Research Activities
Newborn GenSeq TRAIL - therapy ready and information for life - examining the technical and system aspects of genomic newborn screening.
gEnomics4newborns - Integrating Ethics and Equity with Effectivess and Economics for genomic newborn screening
A structured exercise intervention in children and young adults with McArdle disease (GSD V)
The impact of exogenous ketones on exercise capacity in children with inborn errors of muscle energy metabolism
Improving health outcomes by identifying biomarkers to delineate common mechanistic pathways and to monitor therapeutic effect of clinical trials in childhood dementia
Location
Contact
Publications
ORCID as entered in ROS
https://orcid.org/0000-0003-0518-5879