Marina Carpinelli


  • 55 Commercial Road

    3004 Prahran


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Personal profile


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Dr Carpinelli completed her PhD in 2006 at the Walter and Eliza Hall Institute of Medical Research in Melbourne, where she studied the genes that regulate blood platelet production. She then spent six years characterising the genes that underlie hearing loss.  The latter part of this project was completed at the Murdoch Children's Research Institute.  In 2014 she moved to the Central Clinical School, Monash University, where she investigated the genes that control palate closure.  She is currently investigating the genes that mediate neural tube closure.  The neural tube forms in the 4th week post fertilisation to become the brain and spinal cord.  Failed neural tube closure underlies the birth defects spina bifida and anencephaly.

Research interests

Dr Carpinelli is interested in genetics.  She has lectured in these subjects:

HUP3011 Human Pathology, Monash University, 2019-

DEV3032 Stem Cells and the Foundations of Life, Monash University, 2018-

DEV3011 Fundamentals of Developmental Processes, Monash University, 2018

GENE30005 Human and Medical Genetics, University of Melbourne, 2011-2013

GEN3HMG Human and Molecular Genetics, La Trobe University, 2010-2012

Community service

Dr Carpinelli has acted as an independent assessor on a NHMRC project grant and reviewed manuscripts for PLOS Genetics, Disease Models and Mechanisms, PLOS One, Physiological Genomics and Clinical Insightes Ear, Nose and Throat

Education/Academic qualification

Genetics, PhD, University of Melbourne


University Teaching, Graduate Certificate, University of Melbourne


Science, Bachelor with Honours, University of Melbourne


Research area keywords

  • genetics
  • epithelial morphogenesis
  • neural tube closure
  • transcription factors
  • Developmental Biology
  • birth defects

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Research Output 2002 2019

Interrogating the Grainyhead-like 2 (Grhl2) genomic locus identifies an enhancer element that regulates palatogenesis in mouse

de Vries, M., Carpinelli, M., Rutland, E., Hatzipantelis, A., Partridge, D., Auden, A., Anderson, P. J., De Groef, B., Wu, H., Osterwalder, M., Visel, A., Jane, S. M. & Dworkin, S., 26 Nov 2019, (Accepted/In press) In : Developmental Biology. 10 p.

Research output: Contribution to journalArticleResearchpeer-review

3 Citations (Scopus)

An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome

Ogier, J. M., Arhatari, B. D., Carpinelli, M. R., McColl, B. K., Wilson, M. A. & Burt, R. A., 3 Apr 2018, In : Scientific Reports. 8, 1, 9 p., 5482.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
16 Citations (Scopus)

Stage-dependent therapeutic efficacy in PI3K/mTOR-driven squamous cell carcinoma of the skin

Darido, C., Georgy, S. R., Cullinane, C., Partridge, D. D., Walker, R., Srivastava, S., Roslan, S., Carpinelli, M. R., Dworkin, S., Pearson, R. B. & Jane, S. M., 1 Jun 2018, In : Cell Death and Differentiation. 25, 6, p. 1146-1159 14 p.

Research output: Contribution to journalArticleResearchpeer-review

8 Citations (Scopus)

Grainyhead-like Transcription Factors in Craniofacial Development

Carpinelli, M. R., de Vries, M. E., Jane, S. M. & Dworkin, S., 1 Oct 2017, In : Journal of Dental Research. 96, 11, p. 1200-1209 10 p.

Research output: Contribution to journalReview ArticleOtherpeer-review

9 Citations (Scopus)

Mice Haploinsufficient for Ets1 and Fli1 display middle ear abnormalities and model aspects of Jacobsen syndrome

Carpinelli, M. R., Kruse, E. A., Arhatari, B. D., Debrincat, M. A., Ogier, J. M., Bories, J-C., Kile, B. T. & Burt, R. A., Jul 2015, In : American Journal of Pathology. 185, 7, p. 1867-1876 10 p., 2047.

Research output: Contribution to journalArticleResearchpeer-review


Alfred Health Week Poster Prize

Marina Carpinelli (Recipient), 2015

Prize: Prize (including medals and awards)

Colman Speed Medal

Marina Carpinelli (Recipient), 2013

Prize: Prize (including medals and awards)

Dean's Prize for Top Mark in Honours, Department of Medical Biology

Marina Carpinelli (Recipient), 2000

Prize: Prize (including medals and awards)

Disease Models and Mechanisms Travel Grant

Marina Carpinelli (Recipient), 2019

Prize: Prize (including medals and awards)