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)

81 - 100 of 127 works

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

2016

Journal Article

Factors associated with parental adaptation to children with an undiagnosed medical condition

Yanes, Tatiane, Humphreys, Linda, McInerney-Leo, Aideen and Biesecker, Barbara (2016). Factors associated with parental adaptation to children with an undiagnosed medical condition. Journal of Genetic Counseling, 26 (4), 1-12. doi: 10.1007/s10897-016-0060-9

Factors associated with parental adaptation to children with an undiagnosed medical condition

2016

Journal Article

Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia

Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Ades, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C. M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O. M., Brown, Matthew A., Duncan, Emma L., Markie, David M. and Robertson, Stephen P. (2016). Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. American Journal of Human Genetics, 99 (2), 392-406. doi: 10.1016/j.ajhg.2016.05.024

Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia

2016

Journal Article

Fryns syndrome associated with recessive mutations in PIGN in two separate families

Mcinerney-Leo, Aideen M., Harris, Jessica E., Gattas, Michael, Peach, Elizabeth E., Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher, Anderson, Lisa K., Wheeler, Lawrie, Brown, Matthew A., Leo, Paul J., Wicking, Carol and Duncan, Emma L. (2016). Fryns syndrome associated with recessive mutations in PIGN in two separate families. Human Mutation, 37 (7), 695-702. doi: 10.1002/humu.22994

Fryns syndrome associated with recessive mutations in PIGN in two separate families

2016

Journal Article

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

Cortes, Claudio R., McInerney-Leo, Aideen M., Vogel, Ida, Rondon Galeano, Maria C., Leo, Paul J., Harris, Jessica E., Anderson, Lisa K., Keith, Patricia A., Brown, Matthew A., Ramsing, Mette, Duncan, Emma L., Zankl, Andreas and Wicking, Carol (2016). Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. Scientific Reports, 6 (1) 24083, 24083. doi: 10.1038/srep24083

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

2016

Journal Article

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia

McInerney-Leo, Aideen M., Goff, Carine Le, Leo, Paul J., Kenna, Tony J., Keith, Patricia, Harris, Jessica E., Steer, Ruth, Bole-Feysot, Christine, Nitschke, Patrick, Kielty, Cay, Brown, Matthew A., Zankl, Andreas, Duncan, Emma L. and Cormier-Daire, Valerie (2016). Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. Journal of Medical Genetics, 53 (7), 457-464. doi: 10.1136/jmedgenet-2015-103647

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia

2015

Journal Article

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects

McInerney-Leo, Aideen, Sparrow, Duncan B., Harris, Jessica, Gardiner, Brooke, Marshall, Mhairi, O'Reilly, Victoria C., Shi, Hongjun, Brown, Matthew A., Leo, Paul, Zankl, Andreas, Dunwoodie, Sally L. and Duncan, Emma (2015). Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Human Molecular Genetics, 24 (5), 1234-1242. doi: 10.1093/hmg/ddu534

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects

2015

Journal Article

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

Surampalli, Abhilasha, Khare, Manaswitha, Kubrussi, Geogette, Wencel, Marie, Tanaja, Jasmin, Donkervoort, Sandra, Osann, Kathryn, Simon, Mariella, Wallace, Douglas, Smith, Charles, McInerney-Leo, Aideen M and Kimonis, Virginia (2015). Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia. Journal of Genetic Counseling, 24 (5), 842-850. doi: 10.1007/s10897-015-9819-7

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

2015

Journal Article

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

McInerney-Leo, Aideen, Harris, Jessica E., Leo, Paul, Marshall, Mhairi, Gardiner, Brooke, Kinning, Esther, Leong, Huey Yin, McKenzie, Fiona, Ong, PeiTee, Vodopiutz, Julia, Wicking, Carol A., Brown, Matthew A., Zanki, Andreas and Duncan, Emma (2015). Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. Clinical Genetics, 88 (6), 550-557. doi: 10.1111/cge.12550

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

2014

Journal Article

COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

McInerney-Leo, A. M., Duncan, E. L., Leo, P. J., Gardiner, B., Bradbury, L. A., Harris, J. E., Clark, G. R., Brown, M. A. and Zankl, A. (2014). COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?. Clinical Genetics, 88 (1), 49-55. doi: 10.1111/cge.12440

COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

2014

Journal Article

Knowledge and attitudes towards genetic testing in those affected with Parkinson’s disease

Scuffham, Tracey M., McInerney-Leo, Aideen, Ng, Shu-Kay and Mellick, George (2014). Knowledge and attitudes towards genetic testing in those affected with Parkinson’s disease. Journal of Community Genetics, 5 (2), 167-177. doi: 10.1007/s12687-013-0168-7

Knowledge and attitudes towards genetic testing in those affected with Parkinson’s disease

2014

Journal Article

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

Lazarus, Syndia, McInerney-Leo, Aideen M., McKenzie, Fiona A., Baynam, Gareth, Broley, Stephanie, Cavan, Barbra V., Munns, Craig F., Pruijs, Johannes Egbertus Hans, Sillence, David, Terhal, Paulien A., Pryce, Karena, Brown, Matthew A., Zankl, Andreas, Thomas, Gethin and Duncan, Emma L. (2014). The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskeletal Disorders, 15 (107) 107, 1-6. doi: 10.1186/1471-2474-15-107

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

2014

Journal Article

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

McInerney-Leo, Aideen M., Marshall, Mhairi S., Gardiner, Brooke, Benn, Diana E., McFarlane, Janelle, Robinson, Bruce G., Brown, Matthew A., Leo, Paul J., Clifton-Bligh, Roderick J. and Duncan, Emma L. (2014). Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. Clinical Endocrinology, 80 (1), 25-33. doi: 10.1111/cen.12331

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

2013

Journal Article

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

McInerney-Leo, Aideen M., Marshall, Mhairi S., Gardiner, Brooke, Coucke, Paul J., Van Laer, Lut, Loeys, Bart L., Summers, Kim M., Symoens, Sofie, West, Jennifer A., West, Malcolm J., Wordsworth, B. Paul, Zankl, Andreas, Leo, Paul J., Brown, Matthew A. and Duncan, Emma L. (2013). Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. BoneKEy Reports, 2 (456), 1-9. doi: 10.1038/bonekey.2013.190

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

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

    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

    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

    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

  • Doctor Philosophy

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

    Associate Advisor

    Other advisors: Professor Peter Soyer

Completed supervision

Enquiries

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