Peter G. Farlie - Deputy Director, Research

Ph.D.

Peter Farlie

SPECIAL INTERESTS

Early embryonic development
Craniofacial dysmorphology

EDUCATION

1984-1989	B.Sc. - LaTrobe University, Melbourne
1990	B.Sc. Honours (First Class), Department of Biochemistry - LaTrobe University, Melbourne
1991-1995	Ph.D., Molecular Biology Unit Walter and Eliza Hall Institute of Medical Research - University of Melbourne

ACADEMIC APPOINTMENTS

1995- 1997	Post-doctoral Fellow, Ludwig Institute for Cancer Research - St Mary's Hospital, London
1997-Present	Post-doctoral Fellow, Murdoch Childrens Research Institute - Royal Children's Hospital, Melbourne
2003-Present	Deputy Director (Research), Dept of Plastic & Maxillofacial Surgery - Royal Children's Hospital, Melbourne
2004-Present	Research Group Leader, Murdoch Childrens Research Institute, Melbourne

HOSPITAL APPOINTMENTS

2003-Present

Deputy Director (Research), Dept of Plastic & Maxillofacial Surgery - Royal Children's Hospital, Melbourne

AWARDS AND HONORS

1991	Edith Moffatt Scholarship - Walter and Eliza Hall Institute of Medical Research, Melbourne
1992-1994	Australian Postgraduate Research Award
2005-2009	NHMRC RD Wright Fellowship

SOCIETIES

Australian and New Zealand Society for Cell and Developmental Biology
Human Genetics Society of Australia
American Cleft Palate-Craniofacial Association
Australian Society for Medical Research
Society for Developmental Biology USA

RESEARCH PROJECTS

Development of the Craniofacial and Limb Skeleton: Characterizing the molecular regulators

Congenital anomalies of the craniofacial and limb skeleton often occur together, suggesting that the mechanisms controlling normal development may be at least partially shared. Many congenital anomalies of the skeleton result from defects in establishing the basic shapes of individual skeletal elements. These changes may have an immediate impact but can also have long-term consequences for growth. Animal models can be used to determine the cellular and molecular control mechanisms governing early development of skeletal structures. We are using avian and mouse models to identify key regulatory genes that control aspects of craniofacial and limb development. Many of these animal models have features reminiscent of congenital anomalies in humans such as facial clefts and patterning defects in their hands and feet. Analysis of these features is providing clues that help us understand how these defects occur in humans and is providing candidate genes that may be responsible for congenital anomalies.

Determining the genetic basis of isolated Pierre Robin sequence

Pierre Robin Sequence is a condition involving mandibular hypoplasia, cleft palate and glossoptosis. Children affected with this condition frequently have respiratory and feeding difficulties neonatally which result in moderate to severe growth and development deficiencies in the first year of life. Pierre Robin Sequence occurs in conjunction with a number of syndromes but also exists in an isolated form. Isolated Pierre Robin Sequence occurs as a sporadic condition but can also be inherited as an autosomal dominant trait. In collaboration with researchers at Neckar Hospital for Sick Children, Paris and MRC Human Genetics unit, Edinburgh we have recently identified mutations in putative regulatory elements upstream of the SOX9 gene in isolated Pierre Robin Sequence patients. SOX9 is a key regulator of cartilage development implying that the primary defect may be a deficiency in growth of the mandibular (Meckel's cartilage). We are currently extending these studies in additional Pierre Robin Sequence patients and generating a mouse model of Pierre Robin Sequence through deletion of the regulatory elements identified through human genetics studies. Together, these studies will help us understand the developmental sequence causing this common craniofacial birth defect.

RESEARCH GRANTS

1999-2002	Grant in Aid, Helen M. Schutt Foundation ($111,960) - PG Farlie and DF Newgreen
2000	Craniofacial Sciences Consortium Theme grant, MCRI ($50,000) - PG Farlie, N Kilpatrick and S Reilly
2001	Equipment grant, MCRI ($14,102)
2001	Equipment grant, MCRI ($10,567)
2001	Ramaciotti Foundation grant in aid: "Characterisation of a novel gene involved in craniofacial development" ($15,000) - P.G.Farlie
2002-2005	NH&MRC project grant 209118: "Identification of genes involved in neural crest development" ($574,323) - D.F. Newgreen and P.G.Farlie
2002	Wellcome Trust Grant 067093/Z/02/Z: "Biomolecular Expression Analysis Facility" ($820,857) - JF Bateman, HH Dahl, KHA Choo, AH Sinclair, PG Farlie
2003-2005	NH&MRC project grant 237134 , Biological and Mathematical studies of development of the enteric nervous system; ($370,000) - D.F. Newgreen, K. Landman, P.G. Farlie
2003	MRUFD grant in aid, Molecular phenotyping in cranial neural crest cells-a pilot application of microsample proteomics analysis ($10,000) - PG Farlie, M Hubbard
2003	Smile Train/Plastic Surgery Education Fund grant in aid, Identifying a gene for isolated Pierre Robin Sequence (US$19,500) - PG Farlie, Jamshidi, Thomas and Kilpatrick
2004-2006	NH&MRC project grant 284522, Molecular control of mandibular development, ($345,000) - PG Farlie and Newgreen

PUBLICATIONS

Publications 2007-2009

Wong, JTT, Farlie, PG ,Holbert, S ,Lockhart, PJ and Thomas, PQ (2007). Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation. Frontiers in Bioscience 12:2085-95.
Brachvogel B, Pausch F, Farlie P, Gaipl U, Etich J, Zhou Z, Cameron T, von der Mark K, Bateman JF, Pöschl E (2007). Isolated Anxa5(+)/Sca-1(+) perivascular cells from mouse meningeal vasculature retain their perivascular phenotype in vitro and in vivo. Experimental Cell Research, 313(12): 2730.
Di Bella, C, Farlie, PG*, Penington, T. (2008) Bone regeneration in a rabbit critical sized skull defect using adipose derived cells. Tissue Engineering Part A, 14: 483-90 (* corresponding author).
Allen JM, Brachvogel B, Farlie PG, Fitzgerald J, Bateman JF. (2008). The extracellular matrix protein WARP is a novel component of a distinct subset of basement membranes. Matrix Biology 27: 295-305
Sabina Benko, Judy A Fantes, Jeanne Amiel, Dirk-Jan Kleinjan, Sophie Thomas, Jacqueline Ramsay, Negar Jamshidi, Abdelkader Essafi, Simon Heaney, Christopher T. Gordon, David McBride, Christelle Golzio, Malcolm Fisher, Paul Perry, Véronique Abadie, Carmen Ayuso, Muriel Holder-Espinasse, Nicky Kilpatrick, Melissa M Lees, Arnaud Picard, I Karen Temple, Paul Thomas, Marie-Paule Vazquez, Michel Vekemans, Hugues Roest Crollius, Nicholas D Hastie, Arnold Munnich, Heather Etchevers, Anna Pelet, Peter G Farlie, David R FitzPatrick, Stanislas Lyonnet. (2009). Disruption of very distant highly conserved non-coding elements on either side of the SOX9 gene is associated with Pierre Robin sequence. Nature Genetics 41(3):359-64.
Gordon, CG., Rodda, FA. and Farlie, PG. (2009). RCAS retroviral expression system in the study of skeletal development. Dev Dynamics. 238: 797-811.
Cameron, TL. Belluoccio, D. Farlie, PG. Brachvogel, B. and Bateman JF. (2009). Global comparative transcriptome analysis of cartilage formation in vivo. BMC Developmental Biology 9:20.
Jugessur, A. Farlie PG. and Kilpatrick N (2009) The Genetics of Isolated Orofacial Clefts: From Genotypes to Subphenotypes. Oral Diseases (In Press 23/4/09).

Last Updated 01-Jul-2009. Authorised by: Heather Cleland. Enquiries: Amber Fraser.