Other research interests and projects are:
Whole exome sequencing in clinical practice of neonatal genetics.Z Stark ... C Theda ... Melbourne Genomics Health Alliance, C Gaff, SM White. Clinical utility of whole exome sequencing as a first-tier molecular test in infants with monogenic disorders. Genet Med. 2016 Mar 3. doi: 10.1038/gim.2016.1. [Epub ahead of print] PMID: 26938784.
Metabolic disorders - I participated in a 5,000 proband pilot study to show that newborn screening for Adrenoleukodystrophy is feasible: C Theda et al. Newborn Screening for X-linked Adrenoleukodystrophy: Further evidence high throughput screening is feasible. Mol Genet Metab; 2014 Jan 111(1) 55-57
I am interested in new device development for neonatal care and optimisation of intravenous infusions for safer and more efficient neonatal care.
I am a clinical consultant with the Paediatric Infant Perinatal Emergency Retrieval, formerly Neonatal Emergency Transport Service (PIPER / NETS) at the Royal Children's Hospital, Melbourne.
Associate Professor Christiane Theda MD PhD MBA
FRACP FAAP FACMG
