Dr Mark McCabe

Senior Research Officer

I obtained first class Honours at the Royal Melbourne Institute of Technology University in Applied Biology/Biotechnology in 2003. I then conducted by PhD at Prince Henry’s Institute of Medical Research in Melbourne, where I studied hormonal regulation of the Sertoli cell tight junction in men using a variety of in vivo (including human) and in vitro models.

The aim of this work was to identify a novel target for male hormonal contraception, and I established new models and techniques at the institute for assessing the function of the Sertoli cell tight junction; most of which are still being utilised.

In 2008, I began a 5 year post-doc at the UCL-Institute of Child Health in London, UK. The institute is closely affiliated with the world renowned Great Ormond Street Hospital for children. Whilst there, I studied the genotypic overlap between the hypopituitarism and craniofacial/midline spectrum of disorders with Kallmann syndrome, a form of hypogonadotrophic hypogonadism.

I identified several genes implicated in both types of disorders but more interestingly raised questions about the true nature of their relative contribution and highlighted the need for next generation sequencing.

Since July 2013, I am now working with Associate Professor Marcel Dinger in Genome Informatics as well as Dr Ann McCormack in Endocrinology. The focus of my work here is to identify novel genes contributing to rare cancer types including the pituitary and other head and neck cancers, using next generation sequencing and genome wide association studies.

The aim is to develop a gene panel in order to screen patients for mutations quickly with the potential of providing better treatments and subsequently better prognoses. I have presented at several local and international conferences, published several papers and book chapters, and am a member of the Endocrine Society, Australasian Genomic Technologies Association, the Sydney Pituitary Collaborative Group and Sydney Catalyst.

Research Interests

Next generation sequencing and genome wide association studies analysing tumours of the pituitary and head and neck

Awards and Honours

2013 - Featured immunohistochemistry art for December, in the Biology of Reproduction 2014 calendar
2012 - Nomination for Presidential Poster award at the European Society of Paediatric Endocrinology meeting in Leipzig, Germany
2011 - Nomination for Presidential Poster award at the British Society of Paediatric Endocrinology and Diabetes meeting in London, UK
2010 - Front cover art of June issue of Endocrinology
2010 - European Society of Paediatric Endocrinology travel grant to attend the Annual Scientific Meeting at Prague, Czech Republic
2007 - Winner of the Inaugural Student Investigator Award at Monash Medical Centre (to which Prince Henry’s Institute of Medical Research is affiliated) Research Week
2005 & 2007 - Endocrine Society of Australia travel grant to attend Annual Scientific Meetings at Perth (Western Australia) and Christchurch (New Zealand)
2004 - Honourable mention for first year PhD student presentations, Prince Henry’s Institute of Medical Research, Student Presentation Day
2004-2008 - Australian Postgraduate Award

Education

2008 - PhD in Applied Biology/Biotechnology, RMIT University, through Prince Henry’s Institute of Medical Research, Monash Medical Centre - Australia
2003 - First Class Honours in Applied Biology/Biotechnology, RMIT University, through Prince Henry’s Institute of Medical Research - Australia
2002 - Bachelor of Applied Biology/Biotechnology with Distinction, RMIT University - Australia

Selected Publications

McCabe et al. 2014. Diagnosis and Evaluation of Hypogonadism. Pediatric Endocrinology Reviews. 11(Suppl 2):284-297.

Webb et al. 2013. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain. 136(10):3096-3105.

Gregory et al. 2013. Structural pituitary abnormalities associated with CHARGE syndrome. Journal of Clinical Endocrinology and Metabolism. 98(4):E737-743.

McCabe MJ, Dattani MT 2013. Genetic aspects of hypothalamic and pituitary development. In: Fliers E, Korbonits M, Romijn JA eds. Handbook of Clinical Neurology Series: Clinical Neuroendocrinology. Accepted.

McCabe et al. 2013. Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. Journal of Clinical Endocrinology and Metabolism. 98(3):E547-E557.

Bancalari et al. 2012. Pituitary gland development: An update. In: Mullis eds. Sixth ESPE Advanced Seminar in Developmental Endocrinology: Developmental Biology of GH Secretion, Growth and Treatment. Bern, Switzerland: Karger.

McCabe et al. 2012. Androgen initiates Sertoli cell tight junction formation in the hypogonadal (hpg) mouse. Biology of Reproduction. 87(2):1-8.

Raivio et al. 2012. Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. Journal of Clinical Endocrinology and Metabolism. 97(4):E694-E699.

McCabe et al. 2011. Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects and hypothalamo-pituitary dysfunction. Journal of Clinical Endocrinology and Metabolism. 96(10):E1709-E1718.

McCabe et al. 2011. Septo-optic dysplasia and other midline defects: The role of transcription factors: HESX1 and beyond. Best Practise and Research: Clinical Endocrinology and Metabolism 25(1):115-124.

McCabe et al. 2010. Gonadotropins regulate rat testicular tight junctions in vivo. Endocrinology. 151(6): 2911-2922

Dr Mark McCabe