Murdoch Children’s Research Institute

MurdochLogoMCRI, based at The Royal Children’s Hospital in Melbourne, is the largest child health research organisation in Australia with more than 1,500 staff and research higher degree students. The Victorian Clinical Genetics Services, a wholly owned subsidiary, delivers clinical genetics services to over 15,000 families every year. With over 70 research groups, MCRI employs cutting edge technologies including stem cells, genomics, gene editing, and functional genomics to investigate both common and rare diseases affecting children. Research is performed in interdisciplinary teams for cell biology, genetics, population health, clinical sciences, infection and immunity.
Participating in RUBICON are the research teams of Dr Shireen Lamande and Professor John Bateman, who between them have 5 post-doctoral researchers, 5 PhD students and 1 research assistant.

Participating staff
Dr Shireen Lamande PhD, NHMRC Senior Research Fellow
Professor John Bateman PhD, NHMRC Senior Principal Research Fellow. Director of Cell Biology Theme, MCRI.

Relevant publications
1. Lamandé, SR, Yuan, Y, Gresshoff, IL, Rowley, L, Belluoccio, D, Kaluarachchi, K, Little, CB, Botzenhart, E, Zerres, K, Amor, DJ, Cole WG, Savarirayan, R, McIntyre, P, Bateman, JF (2011) Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nature Genetics 43, 1142-1146
2. Zamurs LK, Idoate MA, Hanssen E, Gomez-Ibanez A, Pastor P, Lamandé SR (2015) Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain. J Biol Chem 290, 4272-4281
3. Fang Y, Bateman JF, Mercer JF, Lamandé SR (2013) Nonsense-mediated mRNA decay of collagen – emerging complexity in RNA surveillance mechanisms. J Cell Science 126, 2551-2560