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

120 works between 2000 and 2024
All (120) Journal Article (111) Conference Publication (8) Other Outputs (1)

61 - 80 of 120 works

2020

Journal Article

Queensland consumers' awareness and understanding of clinical genetics services

Wallingford, Courtney K., Cutler, Katrina, Istiko, Satrio Nindyo, Fowles, Lindsay F., Lamb, Rachel, Bean, Jessica, Healy, Louise, Hondow, Gary, Pratt, Gregory, Vidgen, Miranda E., Waddell, Nicola, Evans, Erin, Bunker, David and McInerney-Leo, Aideen M. (2020). Queensland consumers' awareness and understanding of clinical genetics services. Frontiers in Genetics, 11 537743, 537743. doi: 10.3389/fgene.2020.537743

Queensland consumers' awareness and understanding of clinical genetics services

2020

Journal Article

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: increased carriage of TYR and OCA2 variants

Rayner, Jenna E., Duffy, David L., Smit, Darren J., Jagirdar, Kasturee, Lee, Katie J., De’Ambrosis, Brian, Smithers, B. Mark, McMeniman, Erin K., McInerney-Leo, Aideen M., Schaider, Helmut, Stark, Mitchell S., Soyer, H. Peter and Sturm, Richard A. (2020). Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: increased carriage of TYR and OCA2 variants. PLoS ONE, 15 (9) e0238529, e0238529. doi: 10.1371/journal.pone.0238529

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: increased carriage of TYR and OCA2 variants

2020

Journal Article

The emerging field of polygenic risk scores and perspective for use in clinical care

Yanes, Tatiane, McInerney-Leo, Aideen M., Law, Matthew and Cummings, Shelly (2020). The emerging field of polygenic risk scores and perspective for use in clinical care. Human Molecular Genetics, 29 (R2), R165-R176. doi: 10.1093/hmg/ddaa136

The emerging field of polygenic risk scores and perspective for use in clinical care

2020

Journal Article

Causal attributions in an Australian Aboriginal family with Marfan syndrome: a qualitative study

McInerney-Leo, Aideen M., West, Jennifer, Meiser, Bettina, West, Malcolm, Brown, Matthew A. and Duncan, Emma (2020). Causal attributions in an Australian Aboriginal family with Marfan syndrome: a qualitative study. Frontiers in Genetics, 11 461, 461. doi: 10.3389/fgene.2020.00461

Causal attributions in an Australian Aboriginal family with Marfan syndrome: a qualitative study

2020

Journal Article

Compound heterozygous mutation in FBN1 in a large family with Marfan syndrome

McInerney-Leo, Aideen M., West, Jennifer A., Wheeler, Lawrie, Leo, Paul J., Summers, Kim M., Anderson, Lisa, Brown, Matthew A., West, Malcolm J. and Duncan, Emma L. (2020). Compound heterozygous mutation in FBN1 in a large family with Marfan syndrome. Molecular Genetics and Genomic Medicine, 8 (3) e1116, e1116. doi: 10.1002/mgg3.1116

Compound heterozygous mutation in FBN1 in a large family with Marfan syndrome

2020

Journal Article

Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging

McInerney-Leo, Aideen M., West, Jennifer A., McGill, Jim J., Brown, Matthew A., Duncan, Emma L. and West, Malcolm J. (2020). Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging. American Journal of Medical Genetics, Part A, 182 (4) ajmg.a.61474, 829-830. doi: 10.1002/ajmg.a.61474

Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging

2020

Journal Article

Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label”

Withers, Chelsea M., Fleming, Jane, Wallingford, Courtney K., Gabbett, Michael T., Peterson, Madelyn, Humphreys, Linda and McInerney-Leo, Aideen (2020). Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label”. American Journal of Medical Genetics, Part A, 185 (1) ajmg.a.61920, 105-111. doi: 10.1002/ajmg.a.61920

Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label”

2019

Journal Article

The interplay of sun-damage and genetic risk in Australian multiple and single primary melanoma cases and controls

McMeniman, E. K., Duffy, D. L., Jagirdar, K., Lee, K. J., Peach, E., McInerney-Leo, A. M., De'Ambrosis, B., Rayner, J. E., Smithers, B. M., Soyer, H. P. and Sturm, R. A. (2019). The interplay of sun-damage and genetic risk in Australian multiple and single primary melanoma cases and controls. British Journal of Dermatology, 183 (2) bjd.18777, 357-366. doi: 10.1111/bjd.18777

The interplay of sun-damage and genetic risk in Australian multiple and single primary melanoma cases and controls

2019

Journal Article

Evaluation of the efficacy of 3D total-body photography with sequential digital dermoscopy in a high-risk melanoma cohort: protocol for a randomised controlled trial

Primiero, Clare Amy, McInerney-Leo, Aideen M., Betz-Stablein, Brigid, Whiteman, David C., Gordon, Louisa, Caffery, Liam, Aitken, Joanne F., Eakin, Elizabeth, Osborne, Sonya, Gray, Len, Smithers, B. Mark, Janda, Monika, Soyer, H. Peter and Finnane, Anna (2019). Evaluation of the efficacy of 3D total-body photography with sequential digital dermoscopy in a high-risk melanoma cohort: protocol for a randomised controlled trial. BMJ Open, 9 (11) e032969, e032969. doi: 10.1136/bmjopen-2019-032969

Evaluation of the efficacy of 3D total-body photography with sequential digital dermoscopy in a high-risk melanoma cohort: protocol for a randomised controlled trial

2019

Journal Article

A rare mutation in SMAD9 associated with high bone mass identifies the SMAD-dependent BMP signaling pathway as a potential anabolic target for osteoporosis

Gregson, Celia L., Bergen, Dylan J. M., Leo, Paul, Sessions, Richard B., Wheeler, Lawrie, Hartley, April, Youlten, Scott, Croucher, Peter I., McInerney-Leo, Aideen M., Fraser, William, Tang, Jonathan C.Y., Anderson, Lisa, Marshall, Mhairi, Sergot, Leon, Paternoster, Lavinia, Davey Smith, George, Brown, Matthew A., Hammond, Chrissy, Kemp, John P., Tobias, Jon H. and Duncan, Emma L. (2019). A rare mutation in SMAD9 associated with high bone mass identifies the SMAD-dependent BMP signaling pathway as a potential anabolic target for osteoporosis. Journal of Bone and Mineral Research, 35 (1) jbmr.3875, 92-105. doi: 10.1002/jbmr.3875

A rare mutation in SMAD9 associated with high bone mass identifies the SMAD-dependent BMP signaling pathway as a potential anabolic target for osteoporosis

2019

Journal Article

The personal touch: does the communication method affect response to melanoma genetic risk?

McInerney-Leo, A. M. and Finnane, A. (2019). The personal touch: does the communication method affect response to melanoma genetic risk?. British Journal of Dermatology, 180 (6), 1288-1289. doi: 10.1111/bjd.17884

The personal touch: does the communication method affect response to melanoma genetic risk?

2019

Journal Article

Comprehensive genetic screening: the prevalence of MODY gene variants in a population-based childhood diabetes cohort

Johnson, Stephanie R., Ellis, Jonathan J., Leo, Paul, Anderson, Lisa K., Ganti, Uma, Harris, Jessica E., Curran, Jacqueline A., McInerney-Leo, Aideen, Paramalingam, Nirubasini, Song, Xiaoxia, Conwell, Louise S., Harris, Mark, Jones, Timothy W., Brown, Matthew A., Davis, Elizabeth A. and Duncan, Emma L. (2019). Comprehensive genetic screening: the prevalence of MODY gene variants in a population-based childhood diabetes cohort. Pediatric Diabetes, 20 (1), 57-64. doi: 10.1111/pedi.12766

Comprehensive genetic screening: the prevalence of MODY gene variants in a population-based childhood diabetes cohort

2018

Journal Article

Predicted benign and synonymous variants in CYP11A1 causes primary adrenal insufficiency through missplicing

Maharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei-Ming, Capper, Cameron P., Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R., Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D., Brain, Caroline E., Suntharalingham, Jenifer P., Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert, Couch, Robert, Spoudeas, Helen A., Guran, Tulay, Johnson, Stephanie, Fowler, Dallas J, Conwell, Louise S., McInerney-Leo, Aideen M., Drui, Delphine, Cariou, Bertrand ... Metherell, Louise A. (2018). Predicted benign and synonymous variants in CYP11A1 causes primary adrenal insufficiency through missplicing. Journal of the Endocrine Society, 3 (1), 201-221. doi: 10.1210/js.2018-00130

Predicted benign and synonymous variants in CYP11A1 causes primary adrenal insufficiency through missplicing

2018

Journal Article

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism

Johnson, S. R., Leo, P. J., McInerney-Leo, A. M., Anderson, L. K., Marshall, M., McGown, I., Newell, F., Brown, M. A., Conwell, L. S., Harris, M. and Duncan, E. L. (2018). Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. Pediatric Diabetes, 19 (4), 656-662. doi: 10.1111/pedi.12638

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism

2018

Journal Article

Mutations that alter the carboxy-terminal-propeptide cleavage site of the chains of type I procollagen are associated with a unique osteogenesis imperfecta phenotype

Cundy, Tim, Dray, Michael, Delahunt, John, Hald, Jannie Dahl, Langdahl, Bente, Li, Chumei, Szybowska, Marta, Mohammed, Shehla, Duncan, Emma L, Mcinerney-Leo, Aideen M, Wheeler, Patricia G, Roschger, Paul, Klaushofer, Klaus, Rai, Jyoti, Weis, Maryann, Eyre, David, Schwarze, Ulrike and Byers, Peter H (2018). Mutations that alter the carboxy-terminal-propeptide cleavage site of the chains of type I procollagen are associated with a unique osteogenesis imperfecta phenotype. Journal of Bone and Mineral Research, 33 (7), 1260-1271. doi: 10.1002/jbmr.3424

Mutations that alter the carboxy-terminal-propeptide cleavage site of the chains of type I procollagen are associated with a unique osteogenesis imperfecta phenotype

2018

Journal Article

Point mutation in p14ARF-specific exon 1β of CDKN2A causing familial melanoma and astrocytoma

McInerney-Leo, A. M., Wheeler, L., Sturm, R. A., Tan, J. M., Harris, J. E., Anderson, L., Jagirdar, K., Brown, M. A., Leo, P. J., Soyer, H. P. and Duncan, E. L. (2018). Point mutation in p14ARF-specific exon 1β of CDKN2A causing familial melanoma and astrocytoma. British Journal of Dermatology, 178 (4), e263-e264. doi: 10.1111/bjd.16275

Point mutation in p14ARF-specific exon 1β of CDKN2A causing familial melanoma and astrocytoma

2017

Journal Article

NAD deficiency, congenital malformations, and niacin supplementation

Shi, Hongjun, Enriquez, Annabelle, Rapadas, Melissa, Martin, Ella M. M. A., Wang, Roni, Moreau, Julie, Lim, Chai K., Szot, Justin O., Ip, Eddie, Hughes, James N., Sugimoto, Kotaro, Humphreys, David T., McInerney-Leo, Aideen M., Leo, Paul J., Maghzal, Ghassan J., Halliday, Jake, Smith, Janine, Colley, Alison, Mark, Paul R., Collins, Felicity, Sillence, David O., Winlaw, David S., Ho, Joshua W. K., Guillemin, Gilles J., Brown, Matthew A., Kikuchi, Kazu, Thomas, Paul Q., Stocker, Roland, Giannoulatou, Eleni ... Dunwoodie, Sally L. (2017). NAD deficiency, congenital malformations, and niacin supplementation. New England Journal of Medicine, 377 (6), 544-552. doi: 10.1056/NEJMoa1616361

NAD deficiency, congenital malformations, and niacin supplementation

2017

Journal Article

Low first-trimester PAPP-A in IVF (fresh and frozen-thawed) pregnancies, likely due to a biological cause

Hunt, Lauren P., McInerney-Leo, A.M., Sinnott, S., Sutton, B., Cincotta, R., Duncombe, G., Chua, J. and Peterson, M. (2017). Low first-trimester PAPP-A in IVF (fresh and frozen-thawed) pregnancies, likely due to a biological cause. Journal of Assisted Reproduction and Genetics, 34 (10), 1367-1375. doi: 10.1007/s10815-017-0996-1

Low first-trimester PAPP-A in IVF (fresh and frozen-thawed) pregnancies, likely due to a biological cause

2017

Journal Article

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: extending the phenotypic spectrum

Mcinerney-Leo, Aideen M., Wheeler, Lawrie, Marshall, Mhairi S., Anderson, Lisa K., Zankl, Andreas, Brown, Matthew A., Leo, Paul J., Wicking, Carol and Duncan, Emma L. (2017). Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: extending the phenotypic spectrum. American Journal of Medical Genetics, 173 (6), 1698-1704. doi: 10.1002/ajmg.a.38215

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: extending the phenotypic spectrum

2017

Other Outputs

Exome sequencing for genetic testing, novel gene discovery, identification of genetic modifiers and familial perceptions of the aetiology of phenotypic variability

McInerney-Leo, Aideen (2017). Exome sequencing for genetic testing, novel gene discovery, identification of genetic modifiers and familial perceptions of the aetiology of phenotypic variability. PhD Thesis, UQ Diamantina Institute, The University of Queensland. doi: 10.14264/uql.2017.530

Exome sequencing for genetic testing, novel gene discovery, identification of genetic modifiers and familial perceptions of the aetiology of phenotypic variability

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 - 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 - 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 - 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

Before you email them, read our advice on how to contact a supervisor.

Supervision history

Current supervision

  • Doctor Philosophy

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

    Principal Advisor

  • Doctor Philosophy

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

    Principal Advisor

    Other advisors: Professor Peter Soyer, Dr Brigid Betz-Stablein

  • 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

  • Doctor Philosophy

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

    Associate Advisor

    Other advisors: Dr Brigid Betz-Stablein, 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

Completed supervision

Enquiries

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