Dr Gillian Blue

Clinical Senior Lecturer
The Childrens Hospital at Westmead Clinical School

Telephone 9845 2235

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Biographical details

Dr Gillian Blue is a postdoctoral scientist and genetic counsellor with skills and experience in clinical, basic science as well as psychosocial research. Her primary interest is in understanding the genetic mechanisms underlying congenital heart disease (CHD) using genomic technologies. More specifically, as part of her Heart Foundation Postdoctoral Fellowship, she is investigating genetic burden and how this contributes towards disease severity and variable expression.

In line with her background in genetic counselling, Gillian is establishing Australia’s first genetic clinic dedicated to families affected by CHD. The purpose of this clinic is to bridge the gap between research and patient care by facilitating the direct translation of genetic findings into patient care and clinical management. Furthermore, the clinic is a referral point for genetic testing, both clinical and research, genetic counselling and family planning in this patient group.

Gillian also manages the Kids Heart Research DNA Bank, a key resource facilitating genetic research in CHD, including all local and international research collaborations.

Associations

Member of the Human Genetics Society of Australasia (HGSA)

Member of the Australasian Society of Genetic Counsellors (ASGC)

Member of the Australasian Biospeciment Network Association (ABNA)

Awards and honours

2018 National Heart Foundation Postdoctoral Fellowship

'Why did this happen?' – Defining the role of genetic burden in congenital heart disease and translation into patient care.

2016 Heart Kids Australia Grant-in-Aid ($50,000)

Blue GM, Winlaw DS, Badawi N, Walker K.

Targeted exome panel identifying causes of congenital heart disease and neurodevelopmental disability in children undergoing neonatal heart surgery.

2016 Cerebral Palsy Alliance STEPTEMBER Project Grant ($125,000)

Winlaw DS, Blue GM, Loughran-Fowlds A, Walker K.

Comprehensive genetic analysis in neonates with congenital heart disease and association with neurodevelopmental outcomes including autism, intellectual disability and cerebral palsy.

2015 Certificate of Commendation for Student Research Publication

The Dean of Sydney Medical School, University of Sydney.

2015 Acknowledgment for significant achievement by the Dean of Sydney Medical School

Presented at the Sydney Medical School Annual Faculty Dinner, University of Sydney.

2014 Best Publication by a Higher Degree Research Student

Discipline of Paediatrics and Child Health, University of Sydney

2014 Young Investigator Award for Best Oral presentation

International Clinical Cardiovascular Genetics Conference, Brisbane Australia.

2011 Australian Postgraduate Award (APA)

Postgraduate Scholarship

2003 & 2004 National Research Foundation Prestigious Scholarship (South Africa)

Postgraduate Scholarship

Selected grants

2018

  • The role of genetic burden in congenital heart disease and translation into patient care; Blue G; National Heart Foundation of Australia/Postdoctoral Fellowships (Biomedical, Clinical, Public Health, Health Services).
  • Precision medicine in CHD: genetic variants guiding post-operative clinical management; Winlaw D, Blue G, Giannoulatou E, Egan J, Mital S; HeartKids Australia/Grants in Aid.

Selected publications

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Journals

  • Sabbaghian, N., Digilio, M., Blue, G., Revil, T., Winlaw, D., Foulkes, W. (2018). Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries. Congenital Heart Disease, 13(3), 401-406. [More Information]
  • Blue, G., Ip, E., Walker, K., Kirk, E., Loughran-Fowlds, A., Sholler, G., Dunwoodie, S., Harvey, R., Giannoulatou, E., Badawi, N., Winlaw, D. (2018). Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease. American Heart Journal, 201, 33-39. [More Information]
  • Blue, G., Kirk, E., Giannoulatou, E., Sholler, G., Dunwoodie, S., Harvey, R., Winlaw, D. (2017). Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide. Journal of the American College of Cardiology, 69(7), 859-870. [More Information]
  • Blue, G., Humphreys, D., Szot, J., Major, J., Chapman, G., Bosman, A., Kirk, E., Sholler, G., Harvey, R., Dunwoodie, S., Winlaw, D. (2017). The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease. International Journal of Cardiology, 230, 155-163. [More Information]
  • Fonoudi, H., Ansari, H., Abbasalizadeh, S., Blue, G., Aghdami, N., Winlaw, D., Harvey, R., Bosman, A., Baharvand, H. (2016). Large-scale production of cardiomyocytes from human pluripotent stem cells using a highly reproducible small molecule-based differentiation protocol. Journal of Visualized Experiments, 2016 (113), 1-10. [More Information]
  • Fonoudi, H., Ansari, H., Abbasalizadeh, S., Larijani, M., Kiani, S., Hashemizadeh, S., Zarchi, A., Bosman, A., Blue, G., Pahlavan, S., Winlaw, D., et al (2015). A universal and robust integrated platform for the scalable production of human cardiomyocytes from pluripotent stem cells. Stem Cells Translational Medicine, 4(12), 1-13. [More Information]
  • Bosman, A., Edel, M., Blue, G., Dilley, R., Harvey, R., Winlaw, D. (2015). Bioengineering and Stem Cell Technology in the Treatment of Congenital Heart Disease. Journal of Clinical Medicine, 4(4), 768-781. [More Information]
  • Blue, G., Kasparian, N., Sholler, G., Kirk, E., Winlaw, D. (2015). Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning. International Journal of Cardiology, 178, 124-130. [More Information]
  • Blue, G., Kirk, E., Sholler, G., Winlaw, D. (2014). Targeted next generation sequencing identifies likely-pathogenic variants in families with strong histories of CHD. Heart, Lung and Circulation, 23(S2), e1.
  • Blue, G., Kirk, E., Giannoulatou, E., Dunwoodie, S., Ho, J., Hilton, D., White, S., Sholler, G., Harvey, R., Winlaw, D. (2014). Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease. Journal of the American College of Cardiology, 64(23), 2498-2506. [More Information]
  • Cordell, H., Topf, A., Mamasoula, C., Postma, A., Bentham, J., Zelenika, D., Heath, S., Blue, G., Cosgrove, C., Granados-Riveron, J., Winlaw, D., et al (2013). Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Human Molecular Genetics, 22(7), 1473-1481. [More Information]
  • Cordell, H., Bentham, J., Topf, A., Zelenika, D., Heath, S., Mamasoula, C., Cosgrove, C., Blue, G., Granados-Riveron, J., Setchfield, K., Dos Remedios, C., Winlaw, D., et al (2013). Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nature Genetics, 45(7), 822-824. [More Information]
  • Blue, G., Kirk, E., Sholler, G., Harvey, R., Winlaw, D. (2012). Congenital heart disease: current knowledge about causes and inheritance. Medical Journal of Australia, 197(3), 155-159. [More Information]
  • Soemedi, R., Wilson, I., Bentham, J., Darlay, R., Topf, A., Zelenika, D., Cosgrove, C., Setchfield, K., Thornborough, C., Granados-Riveron, J., Winlaw, D., et al (2012). Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. American Journal of Human Genetics, 91(3), 489-501. [More Information]
  • Marjaneh, M., Kirk, E., Posch, M., Ozcelik, C., Berger, F., Hetzer, R., Otway, R., Butler, T., Blue, G., Griffiths, L., Winlaw, D., et al (2011). Investigation of association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4. PloS One, 6(6), e20711-1-e20711-7. [More Information]
  • Esposito, G., Butler, T., Blue, G., Cole, A., Sholler, G., Kirk, E., Grossfeld, P., Perryman, B., Harvey, R., Winlaw, D. (2011). Somatic Mutations in NKX2-5, GATA4, and HAND1 Are Not a Common Cause of Tetralogy of Fallot or Hypoplastic Left Heart. American Journal of Medical Genetics, Part A, 155(10), 2416-2421. [More Information]
  • Butler, T., Esposito, G., Blue, G., Cole, A., Costa, M., Waddell, L., Walizada, G., Sholler, G., Kirk, E., Feneley, M., Winlaw, D., et al (2010). GATA4 Mutations in 357 Unrelated Patients with Congenital Heart Malformation. Genetic Testing and Molecular Biomarkers, 14(6), 1-6. [More Information]

2018

  • Sabbaghian, N., Digilio, M., Blue, G., Revil, T., Winlaw, D., Foulkes, W. (2018). Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries. Congenital Heart Disease, 13(3), 401-406. [More Information]
  • Blue, G., Ip, E., Walker, K., Kirk, E., Loughran-Fowlds, A., Sholler, G., Dunwoodie, S., Harvey, R., Giannoulatou, E., Badawi, N., Winlaw, D. (2018). Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease. American Heart Journal, 201, 33-39. [More Information]

2017

  • Blue, G., Kirk, E., Giannoulatou, E., Sholler, G., Dunwoodie, S., Harvey, R., Winlaw, D. (2017). Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide. Journal of the American College of Cardiology, 69(7), 859-870. [More Information]
  • Blue, G., Humphreys, D., Szot, J., Major, J., Chapman, G., Bosman, A., Kirk, E., Sholler, G., Harvey, R., Dunwoodie, S., Winlaw, D. (2017). The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease. International Journal of Cardiology, 230, 155-163. [More Information]

2016

  • Fonoudi, H., Ansari, H., Abbasalizadeh, S., Blue, G., Aghdami, N., Winlaw, D., Harvey, R., Bosman, A., Baharvand, H. (2016). Large-scale production of cardiomyocytes from human pluripotent stem cells using a highly reproducible small molecule-based differentiation protocol. Journal of Visualized Experiments, 2016 (113), 1-10. [More Information]

2015

  • Fonoudi, H., Ansari, H., Abbasalizadeh, S., Larijani, M., Kiani, S., Hashemizadeh, S., Zarchi, A., Bosman, A., Blue, G., Pahlavan, S., Winlaw, D., et al (2015). A universal and robust integrated platform for the scalable production of human cardiomyocytes from pluripotent stem cells. Stem Cells Translational Medicine, 4(12), 1-13. [More Information]
  • Bosman, A., Edel, M., Blue, G., Dilley, R., Harvey, R., Winlaw, D. (2015). Bioengineering and Stem Cell Technology in the Treatment of Congenital Heart Disease. Journal of Clinical Medicine, 4(4), 768-781. [More Information]
  • Blue, G., Kasparian, N., Sholler, G., Kirk, E., Winlaw, D. (2015). Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning. International Journal of Cardiology, 178, 124-130. [More Information]

2014

  • Blue, G., Kirk, E., Sholler, G., Winlaw, D. (2014). Targeted next generation sequencing identifies likely-pathogenic variants in families with strong histories of CHD. Heart, Lung and Circulation, 23(S2), e1.
  • Blue, G., Kirk, E., Giannoulatou, E., Dunwoodie, S., Ho, J., Hilton, D., White, S., Sholler, G., Harvey, R., Winlaw, D. (2014). Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease. Journal of the American College of Cardiology, 64(23), 2498-2506. [More Information]

2013

  • Cordell, H., Topf, A., Mamasoula, C., Postma, A., Bentham, J., Zelenika, D., Heath, S., Blue, G., Cosgrove, C., Granados-Riveron, J., Winlaw, D., et al (2013). Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Human Molecular Genetics, 22(7), 1473-1481. [More Information]
  • Cordell, H., Bentham, J., Topf, A., Zelenika, D., Heath, S., Mamasoula, C., Cosgrove, C., Blue, G., Granados-Riveron, J., Setchfield, K., Dos Remedios, C., Winlaw, D., et al (2013). Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nature Genetics, 45(7), 822-824. [More Information]

2012

  • Blue, G., Kirk, E., Sholler, G., Harvey, R., Winlaw, D. (2012). Congenital heart disease: current knowledge about causes and inheritance. Medical Journal of Australia, 197(3), 155-159. [More Information]
  • Soemedi, R., Wilson, I., Bentham, J., Darlay, R., Topf, A., Zelenika, D., Cosgrove, C., Setchfield, K., Thornborough, C., Granados-Riveron, J., Winlaw, D., et al (2012). Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. American Journal of Human Genetics, 91(3), 489-501. [More Information]

2011

  • Marjaneh, M., Kirk, E., Posch, M., Ozcelik, C., Berger, F., Hetzer, R., Otway, R., Butler, T., Blue, G., Griffiths, L., Winlaw, D., et al (2011). Investigation of association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4. PloS One, 6(6), e20711-1-e20711-7. [More Information]
  • Esposito, G., Butler, T., Blue, G., Cole, A., Sholler, G., Kirk, E., Grossfeld, P., Perryman, B., Harvey, R., Winlaw, D. (2011). Somatic Mutations in NKX2-5, GATA4, and HAND1 Are Not a Common Cause of Tetralogy of Fallot or Hypoplastic Left Heart. American Journal of Medical Genetics, Part A, 155(10), 2416-2421. [More Information]

2010

  • Butler, T., Esposito, G., Blue, G., Cole, A., Costa, M., Waddell, L., Walizada, G., Sholler, G., Kirk, E., Feneley, M., Winlaw, D., et al (2010). GATA4 Mutations in 357 Unrelated Patients with Congenital Heart Malformation. Genetic Testing and Molecular Biomarkers, 14(6), 1-6. [More Information]

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