Associate Professor Aideen McInerney-Leo
Associate Professor

Aideen McInerney-Leo

Email: 
Phone: 
+61 7 344 33735

Background

I am a clinician-academic whose interactions with patients have shaped my research questions and fuelled my enthusiasm for the importance of clinical research. I trained as a genetic counsellor and my research now focuses on the integration of genomics into clinical care. My research program has had three primary themes: evaluating the psychosocial impact of genetic conditions and/or genetic testing; evaluating genetics education preferences for patients and healthcare providers; and using next-generation sequencing to increase diagnostic yield for rare disorders.

Current research projects include:

  1. Exploring whether genetic fatalism affects sun-related health behaviours in high-risk individuals following genetic testing.
  2. Exploring the referral journey to genetic services for individuals with rare diseases
  3. Assessing Human Research Ethics Committee (HREC) members’ confidence in reviewing genomic research applications.
  4. Mainstreaming Genetic Testing for Melanoma into Dermatology Practice.
  5. Using Exome sequencing to identify new genes in families with inherited melanoma, negative for mutations in known genes.

Availability

Associate Professor Aideen McInerney-Leo is:
Available for supervision

Qualifications

  • Masters (Coursework) of Science, The University of Manchester
  • Doctor of Philosophy, The University of Queensland

Research interests

  • Integrating genetic testing for melanoma into dermatology practice

    Our study explores whether upskilling dermatologists to offer genetic testing for melanoma is acceptable to dermatologists and whether patient outcomes, as compared to when genetic testing is offered by a genetic counsellor.

Search Professor Aideen McInerney-Leo’s works on UQ eSpace

127 works between 2000 and 2025
All (127) Journal Article (116) Conference Publication (8) Other Outputs (3)

101 - 120 of 127 works

2013

Journal Article

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R., McInerney-Leo, Aideen M., Emes, Richard D., Arts, Heleen H., Tüysüz, Beyhan, D'Silva, Jason, Leo, Paul J., Giles, Tom C., Oud, Machteld M., Harris, Jessica A., Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T., Wilson, Louise C., Janecke, Andreas R., Hurles, Matthew E., Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J. ... Mitchison, Hannah M. (2013). Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 93 (5), 932-944. doi: 10.1016/j.ajhg.2013.10.003

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

2013

Journal Article

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschke, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stephane, Szabo, Attila J., Tory, Kalman, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei ... Hildebrandt, Friedhelm (2013). Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. American Journal of Human Genetics, 93 (5), 915-925. doi: 10.1016/j.ajhg.2013.09.012

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

2013

Journal Article

Short-rib polydactyly and Jeune Syndromes are caused by mutations in WDR60

McInerney-Leo, Aideen M., Schmidts, Miriam, Cortés, Claudio R., Leo, Paul J., Gener, Blanca, Courtney, Andrew D., Gardiner, Brooke, Harris, Jessica A., Lu, Yeping, Marshall, Mhairi, Scrambler, Peter J., Beales, Philip L., Brown, Matthew A., Zankl, Andreas, Mitchison, Hannah M., Duncan, Emma L., Wicking, Carol and UK10K Consortium (2013). Short-rib polydactyly and Jeune Syndromes are caused by mutations in WDR60. American Journal of Human Genetics, 93 (3), 515-523. doi: 10.1016/j.ajhg.2013.06.022

Short-rib polydactyly and Jeune Syndromes are caused by mutations in WDR60

2013

Journal Article

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

Sparrow, Duncan B., McInerney-Leo, Aideen, Gucev, Zoran S., Gardiner, Brooke, Marshall, Mhairi, Leo, Paul J., Chapman, Deborah L., Tasic, Velibor, Shishko, Abduhadi, Brown, Matthew A., Duncan, Emma L. and Dunwoodie, Sally L. (2013). Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Human Molecular Genetics, 22 (8), 1625-1631. doi: 10.1093/hmg/ddt012

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

2013

Conference Publication

Whole exome sequencing is a sensitive and cost-effective means of detecting mutations in patients with Marfan syndrome and osteogenesis imperfecta

Duncan, Emma, McInerney-Leo, Aideen, Leo, Paul, Gardiner, Brooke, Marshall, Mhairi, Coucke, Paul, Loeys, Bart, West, Malcolm, West, Jennifer, Wordsworth, Paul, Zankl, Andreas, Brown, Matthew and van Laer, Lut (2013). Whole exome sequencing is a sensitive and cost-effective means of detecting mutations in patients with Marfan syndrome and osteogenesis imperfecta. Annual Meeting of the American Society for Bone and Mineral Research, Baltimore, MD, United States, 4-7 October 2013. Hoboken, NJ, United States: Wiley-Blackwell.

Whole exome sequencing is a sensitive and cost-effective means of detecting mutations in patients with Marfan syndrome and osteogenesis imperfecta

2012

Journal Article

Uptake of invasive prenatal tests in pregnancies conceived via assisted reproductive technologies: the experience in Queensland, Australia

Hunt, Lauren, Peterson, Madelyn, Sinnott, Stephen, Sutton, Bridget, Cincotta, Robert, Duncombe, Gregory, Chua, Jackie and McInerney-Leo, Aideen (2012). Uptake of invasive prenatal tests in pregnancies conceived via assisted reproductive technologies: the experience in Queensland, Australia. Prenatal Diagnosis, 32 (11), 1049-1052. doi: 10.1002/pd.3953

Uptake of invasive prenatal tests in pregnancies conceived via assisted reproductive technologies: the experience in Queensland, Australia

2012

Conference Publication

Next generation sequencing identifies mutations clustering in the amino-terminal transcriptional activation domain of Mafb in multicentric carpotarsal osteolysis

McInerney-Leo, A., Zankl, A., Duncan, E., Clark, G., Leo, P., Glasov, E. and Brown, M. (2012). Next generation sequencing identifies mutations clustering in the amino-terminal transcriptional activation domain of Mafb in multicentric carpotarsal osteolysis. Australian Rheumatology Association in conjunction with Rheumatology Health Professionals 53rd Annual Scientific Meeting, Canberra, Australia, 12-15 May 2012. Richmond, VIC, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/j.1445-5994.2012.02759.x

Next generation sequencing identifies mutations clustering in the amino-terminal transcriptional activation domain of Mafb in multicentric carpotarsal osteolysis

2011

Conference Publication

Complete Exome Sequencing for Marfan Syndrome, Osteogenesis Imperfecta and Stickler Syndrome: a New Era

McInerney-Leo, A., Glasov, E., Duncan, E. and Zankl, A. (2011). Complete Exome Sequencing for Marfan Syndrome, Osteogenesis Imperfecta and Stickler Syndrome: a New Era. Rheumatology Health Professionals Association 52nd Annual Scientific Meeting, Brisbane, Queensland, 14-17 May 2011. Richmond, VIC, Australia: Wiley-Blackwell. doi: 10.1111/j.1445-5994.2010.02467.x

Complete Exome Sequencing for Marfan Syndrome, Osteogenesis Imperfecta and Stickler Syndrome: a New Era

2007

Journal Article

Comprehensive screening of a north American Parkinson's disease cohort for LRRK2 mutation

Johnson, Janel, Paisan-Ruiz, Coro, Lopez, Grisel, Crews, Cynthia, Britton, Angela, Malkani, Roniel, Evans, E. Whitney, McInerney-Leo, Aideen, Jain, Shushant, Nussbaum, Robert L., Foote, Kelly D., Mandel, Ronald J., Crawley, Anthony, Reimsnider, Sharon, Fernandez, Hubert H., Okun, Michael S., Gwinn-Hardy, Katrina and Singleton, Andrew B. (2007). Comprehensive screening of a north American Parkinson's disease cohort for LRRK2 mutation. Neurodegenerative Diseases, 4 (5), 386-391. doi: 10.1159/000105160

Comprehensive screening of a north American Parkinson's disease cohort for LRRK2 mutation

2006

Journal Article

BRCA1/2 testing in hereditary breast and ovarian cancer families III: risk perception and screening

McInerney-Leo, Aideen, Hadley, Donald, Kase, Ronald G., Giambarresi, Therese R., Struewing, Jeffery P. and Biesecker, Barbara Bowles (2006). BRCA1/2 testing in hereditary breast and ovarian cancer families III: risk perception and screening. American Journal of Medical Genetics Part A, 140A (20), 2198-2206. doi: 10.1002/ajmg.a.31432

BRCA1/2 testing in hereditary breast and ovarian cancer families III: risk perception and screening

2006

Journal Article

Truth-telling and Turner syndrome: the importance of diagnostic disclosure

Sutton, Erica J., Young, Jessica, McInerney-Leo, Aideen, Bondy, Carolyn A., Gollust, Sarah E. and Biesecker, Barbara B. (2006). Truth-telling and Turner syndrome: the importance of diagnostic disclosure. Journal of Pediatrics, 148 (1), 102-107. doi: 10.1016/j.jpeds.2005.08.022

Truth-telling and Turner syndrome: the importance of diagnostic disclosure

2005

Journal Article

Turner syndrome: four challenges across the lifespan

Sutton, Erica J., McInerney-Leo, Aideen, Bondy, Carolyn A., Gollust, Sarah E., King, Donnice and Biesecker, Barbara (2005). Turner syndrome: four challenges across the lifespan. American Journal of Medical Genetics Part A, 139A (2), 57-66. doi: 10.1002/ajmg.a.30911

Turner syndrome: four challenges across the lifespan

2005

Journal Article

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease

Simon-Sanchez, Javier, Hanson, Melissa, Singleton, Amanda, Hernandez, Dena, McInerney, Aideen, Nussbaum, Robert, Werner, John, Gallardo, Marisol, Weiser, Roberto, Gwinn-Hardy, Katrina, Singleton, Andrew B. and Clarimon, Jordi (2005). Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neuroscience Letters, 382 (1-2), 191-194. doi: 10.1016/j.neulet.2005.03.015

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease

2005

Journal Article

Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype

Meyer-Lindenberg, Andreas, Kohn, Philip D., Kolachana, Bhaskar, Kippenhan, Shane, McInerney-Leo, Aideen, Nussbaum, Robert, Weinberger, Daniel R. and Berman, Karen Faith (2005). Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype. Nature Neuroscience, 8 (5), 594-596. doi: 10.1038/nn1438

Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype

2005

Journal Article

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2

Hernandez, Dena G., Paisan-Ruiz, Coro, McInerney-Leo, Aideen, Jain, Shushant, Meyer-Lindenberg, Andreas, Evans, E. Whitney, Berman, Karen F., Johnson, Janel, Auburger, Georg, Schaffer, Alejandro A., Lopez, Grisel J., Nussbaum, Robert L. and Singleton, Andrew B. (2005). Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Annals of Neurology, 57 (3), 453-456. doi: 10.1002/ana.20401

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2

2005

Journal Article

BRCA1/2 testing in hereditary breast and ovarian cancer families II: impact on relationships

McInerney‐Leo, Aideen, Biesecker, Barbara Bowles, Hadley, Donald W., Kase, Ronald G., Giambarresi, Therese R., Johnson, Elizabeth, Lerman, Caryn and Struewing, Jeffery P. (2005). BRCA1/2 testing in hereditary breast and ovarian cancer families II: impact on relationships. American Journal of Medical Genetics Part A, 133A (2), 165-169. doi: 10.1002/ajmg.a.30566

BRCA1/2 testing in hereditary breast and ovarian cancer families II: impact on relationships

2005

Journal Article

Genetic testing in Parkinson's disease

McInerney-Leo, Aideen, Hadley, Donald W., Gwinn-Hardy, Katrina and Hardy, John (2005). Genetic testing in Parkinson's disease. Movement Disorders, 20 (1), 1-10. doi: 10.1002/mds.20316

Genetic testing in Parkinson's disease

2005

Journal Article

Genetic testing in Parkinson's disease

McInerney-Leo, Aideen (2005). Genetic testing in Parkinson's disease. Movement Disorders, 20 (7), 908-909. doi: 10.1002/mds.20509

Genetic testing in Parkinson's disease

2004

Journal Article

Parkinsonism among Gaucher disease carriers

Goker-Alpan, O., Schiffmann, R., LaMarca, M.E., Nussbaum, R.L., McInerney-Leo, A. and Sidransky, E. (2004). Parkinsonism among Gaucher disease carriers. Journal of Medical Genetics, 41 (12), 937-940. doi: 10.1136/jmg.2004.024455

Parkinsonism among Gaucher disease carriers

2004

Journal Article

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

Rogaeva, E., Johnson, J., Lang, A. E., Gulick, C., Gwinn-Hardy, K., Kawarai, T., Sato, C., Morgan, A., Werner, J., Nussbaum, R., Petit, A., Okun, M. S., McInerney, A., Mandel, R., Groen, J. L., Fernandez, H. H., Postuma, R., Foote, K. D., Salehi-Rad, S., Liang, Y., Reimsnider, S., Tandon, A., Hardy, J., St George-Hyslop, P. and Singleton, A. B. (2004). Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Archives of Neurology, 61 (12), 1898-1904. doi: 10.1001/archneur.61.12.1898

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

Current funding

  • 2024 - 2025
    Embedding Genomics in the Childhood Hearing Clinic
    Illumina Australia Pty Ltd
    Open grant
  • 2024 - 2026
    Genomics of paediatric inborn errors of immunity
    TRI Leading Innovations through New Collaborations Scheme
    Open grant
  • 2024 - 2028
    Melanoma Population Screening: Using Genomics to Facilitate Risk Stratification
    NHMRC Partnership Projects
    Open grant
  • 2024 - 2029
    Genetics: The key to a future without macular degeneration
    Estate of Marie June Collins via Research Donations
    Open grant
  • 2021 - 2026
    To determine whether provider type affects psychosocial and behavioural outcomes in genetic testing for melanoma.
    Research Donation Generic
    Open grant

Past funding

  • 2023 - 2024
    Assessing behavioural impacts of receiving personalised risk scores for melanoma (Australia Melanoma Research Foundation Early Career Scientist Grant)
    Australian Melanoma Research Foundation
    Open grant
  • 2023
    Empowering Human Research Ethics Committee Members to Evaluate Genomics Applications
    UQ Foundation Research Excellence Awards
    Open grant
  • 2021 - 2025
    Intelligent total body scanner for early detection of melanoma
    NHMRC European Union Collaborative Research Grants
    Open grant
  • 2021 - 2025
    iToBoS: Intelligent Total Body Scanner for Early Detection of Melanoma (EU H2020 application led by Universitat de Girona)
    Universitat de Girona
    Open grant
  • 2021 - 2024
    Establishing Australia's First Familial Melanoma Clinic (MSH RSS SERTA Program Grant led by Metro South Hospital and Health Service)
    Metro South Hospital and Health Service
    Open grant
  • 2020 - 2023
    'We need to talk' : Genomics and disability
    MRFF Genomics Health Futures Mission, Project Grant administered by AusIndustry
    Open grant
  • 2020 - 2023
    Moratorium on Genetic Testing and Life Insurance: Monitoring the impact (MRFF Genomics Project administered by Monash)
    Monash University
    Open grant
  • 2019 - 2022
    Identifying genes causing melanoma and modifying the phenotype and exploring whether genetic fatalism affects sun-related health behaviours in high-risk individuals.
    NHMRC Early Career Fellowships
    Open grant

Availability

Associate Professor Aideen McInerney-Leo is:
Available for supervision

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Supervision history

Current supervision

  • Doctor Philosophy

    Developing and implementing interventions to facilitate the utilisation of polygenic risk scores in risk stratifying older populations for degenerative eye disease

    Principal Advisor

    Other advisors: Dr Tatiane Yanes

  • Doctor Philosophy

    Unusual suspects in hereditary melanoma: phenotype-genotype characterisation of POT1, POLE, BAP1 and CDKN2A carriers

    Principal Advisor

    Other advisors: Professor Peter Soyer

  • Doctor Philosophy

    Integrating genomics and deep phenotyping to optimise care for paediatric hearing loss

    Principal Advisor

  • Doctor Philosophy

    Multiple Primary Melanoma: Defining phenotypic, behavioural, and genetic risk profile for invasive versus in situ lesions

    Principal Advisor

    Other advisors: Professor Peter Soyer

  • Doctor Philosophy

    Artificial Intelligence Tools for Automated Melanoma Risk Assessment: Potential Utility and Validation

    Associate Advisor

    Other advisors: Professor Peter Soyer

  • Doctor Philosophy

    Translating polygenic and personalised risk scores: Acceptability and impact of providing polygenic and personalised risk information for melanoma

    Associate Advisor

    Other advisors: Professor Peter Soyer, Dr Tatiane Yanes

  • Doctor Philosophy

    Development and evaluation of model of care for implementation of genomic testing for paediatric healthcare

    Associate Advisor

    Other advisors: Dr Tatiane Yanes

  • Doctor Philosophy

    Mainstreaming polygenic risk testing for common cancers into clinical practice

    Associate Advisor

    Other advisors: Dr Tatiane Yanes

Completed supervision

Enquiries

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