Dr Aideen McInerney-Leo

PhD Exome sequencing, MSc Genetic Counselling, BSc Human Genetics

NHMRC Research Fellow

Research Themes

Genetic Medicine


About me

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. Mainstreaming Genetic Testing for Melanoma into Dermatology Practice.
  4. Using Exome sequencing to identify new genes in families with inherited melanoma, negative for mutations in known genes.


McInerney-Leo, Duncan E. Massively parallel sequencing for rare genetic disorders:

potential and pitfalls. Frontiers in Endocrinology (Accepted Dec 2020)

Primiero C, Yanes T, Finnane A, Soyer HP, McInerney-Leo AM. A systematic review on

the impact of genetic testing for familial melanoma I: primary and secondary preventative behaviours. Dermatology (accepted Dec 2020)

Primiero C, Yanes T, Finnane A, Soyer HP, McInerney-Leo AM. A systematic review on

the impact of genetic testing for familial melanoma II: psychosocial outcomes. Dermatology (Accepted Dec 2020)

Martin EM, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan

EL Iyer KR, Greasby JA, Ip IE, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai, Lebenthal Y, Gharavi AG, Grażyna, Krzemień G, Miklaszewska, Steiner RD, Raggio C, Blank R, Baris H, Feldman, Rasouly HM, Sobreira NLM, Jobling R, Gordon CT, Giampietro P,  Dunwoodie SL, Chapman G. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Human Molecular Genetics. (November 2020)

Wallingford CK, Cutler K, Istiko SN, Fowles L, Lamb R, Bean J, Healy L, Hondow G, Pratt G,

Vidgen ME, Waddell N, Evans E, Bunker D, McInerney-Leo AM. Queensland Consumers’ awareness and understanding of clinical genetics services. J Transl Med 18, 431 (2020). https://doi.org/10.1186/s12967-020-02610-7

Withers CM, Fleming, J, Wallingford CK, Gabbett MT, Peterson M, Humphries L,

McInerney-Leo AMWaiting for a diagnosis in Rubinstein Taybi: the journey from ‘ignorance is bliss’ to the value of ‘a label'. Am J Med Genet. 2020;1–7. DOI: 10.1002/ajmg.a.61920

Rayner JE, Duffy DL, Smit DJ, Jagirdar K, Lee KJ, De'Ambrosis B, Smithers BM,

McMeniman EK, McInerney-Leo AM, Schaider H, Stark MS, Soyer HP, Sturm RA. Albinism variants in individuals with amelanotic/hypomelanotic melanoma: increased carriage of TYR and OCA2 variants and their somatic mutation in AHM tumor tissue. PLOS ONE, 2020; 15 (9): e0238529 DOI: 10.1371/journal.pone.0238529

Yanes T, McInerney-Leo AM, Law MH, Cummings S. The emerging field of polygenic risk scores and perspective for use in Clinical Care. Hum Mol Genet https://doi.org/10.1093/hmg/ddaa136

McMeniman EK, Peach E, Lee KJ, Jagirdar K, Stark MS, Soyer HP, Duffy DL, McInerney-Leo AM* Sturm RA* (joint senior). CDKN2A testing threshold in high risk Australian melanoma cohort: How the number of primaries and age of onset affects genetic testing. JEADV May 9. doi: 10.1111/jdv.16627.

McInerney-Leo AM, West JA, Meiser BM, West MJ, Brown MA, Duncan EL. Causal Attributions in an Australian Aboriginal family with Marfan syndrome: A qualitative study. Frontiers in Genetics 2020 April. doi: 10.3389/fgene.2020.00461

McInerney-Leo AM, West JA, McGill JJ, Brown MA, Duncan EL, West MJ. Use of the arm- span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically Challenging. Am J Med Genet A 2020 Jan 14. doi: 10.1002/ajmg.a.61474

McInerney-Leo AM, West JA, Wheeler L, Leo PJ, Summers KM, Anderson L, Brown MA, West MJ, Duncan EL. Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome. Med Gen Genomic Med. 2020 Mar;8(3):e1116. doi: 10.1002/mgg3.1116.

McMeniman EK, Duffy DL, Jagirdar K, Lee KJ, Peach E, McInerney-Leo AM, De’Ambrosis B, Rayner JE, Smithers BE, Soyer HP, Sturm RA. The interplay of sun-damage and genetic risk in Australian multiple and single primary melanoma cases and controls. British Journal of Dermatology Accepted Dec 2019 DOI: 10.1111/bjd.18777

Primiero CA, McInerney-Leo AM, Betz-Stablein B, Whiteman DC, Gordon LG, Caffery LJ, Aitken JF, Eakin E, Osborne S, Gray L, Smithers BM, Janda M, Soyer HP, Finnane A. Protocol for a Randomised Controlled Trial to evaluate the efficacy of 3D Total Body Photography with sequential digital dermoscopy in a high risk melanoma cohort. BMJ Open. Accepted for publication 07.10.2019. DOI: 10.1136/bmjopen-2019-032969

Gregson CL, Bergen D, Sessions RB, Wheeler L, Hartley A, Youlton S, Croucher PI, McInerney-Leo AM, Fraser W, Tang JCY, Anderson L, Marshall M, Paternoster L, Davey-Smith G, Brown MA, Hammond C, Kemp JP, Leo PJ, Tobias JH, Duncan EL. A rare mutation in SMAD9 associated with high bone mass identifies the SMAD-dependent BMP signalling pathway as a potential anabolic target for osteoporosis. J Bone Miner Res. 2019 Sep 16. doi: 10.1002/jbmr.3875.

Johnson SR, Ellis JJ, Leo P, Anderson LK, Ganti U, Harris JE, Curran JA, McInerney-Leo A, Paramalingam N, Song X, Conwell LS, Harris M, Jones TW, Brown MA, Davis EA, Duncan EL. Comprehensive genetic screening: the prevalence of MODY gene variants in a population-based childhood diabetes cohort. Pediatr Diabetes. 2019 Feb;20(1):57-64 doi 10.1111/pedi.12766

Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng HM, Capper CP, Burgos-Tirado N, Prasad R, Hughes CR, Maudhoo A, Crowne E, Cheetham TD, Brain CE, Suntharalingham JP, Striglioni N, Yuksel B, Gurbuz F, Gupta S, Lindsay R, Couch R, Spoudeas HA, Guran T, Johnson S, Fowler DJ, Conwell LS, McInerney-Leo AM, Drui D, Cariou B, Lopez-Siguero JP, Harris M, Duncan EL, Hindmarsh PC, Auchus RJ, Donaldson MD, Achermann JC, Metherell LA. Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing. J Endocr Soc. 2018 Oct 30;3(1):201-221. Doi 10.1210/js.2018-00130

Cundy T, Dray M, Delahunt J, Hald JD, Langdahl B, Li C, Szybowska M, Mohammed S, Duncan EL, McInerney-Leo AM, Wheeler PG, Roschger P, Klaushofer K, Rai J, Weis M, Eyre D, Schwarze U, Byers PH. Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype. J Bone Miner Res. 2018 Jul;33(7):1260-1271. Doi 10.1002/jbmr.3424

Johnson SR, Leo PJ, McInerney-Leo AM, Anderson LK, Marshall M, McGown I, Newell F, Brown MA, Conwell LS, Harris M, Duncan EL. Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. Pediatr Diabetes. 2018 Jun;19(4):656-662. Doi 10.1111/pedi.12638

McInerney-Leo AM, Wheeler L, Sturm RA, Tan JM, Harris JE, Anderson L, Jagirdar K, Brown MA, Leo PJ, Soyer HP, Duncan EL. Point mutation in p14(ARF) –specific exon 1β of CDKN2A causing familial melanoma and astrocytoma. Br J Dermatol. 2018 Apr;178(4):e263-e264. Doi 10.1111/bjd.16275

McInerney-Leo AM, Wheeler L, Marshall MS, Anderson LK, Zankl A, Brown MA, Leo PJ, Wicking C, Duncan EL. Homozygous variant in C21ORF2 in a case of Jeune syndrome with severe thoracic involvement: extending the phenotypic spectrum. Am J Med Genet 2017 Jun;173(6):1698-1704

Yanes T, Humphreys L, McInerney-Leo A, Biesecker B. Factors Associated with Parental Adaptation to Children with an Undiagnosed Medical Condition. J Genet Couns. 2017 Aug;26(4):829-840

Hunt LP, McInerney-Leo AM, Sinnott S, Sutton B, Cincotta R, Duncombe G, Chua J, Peterson M. Low first-trimester PAPP-A in IVF (fresh and frozen-thawed) pregnancies, likely due to a biological cause. J Assist Reprod Genet. 2017 Jul 17. doi: 10.1007/s10815-017-0996-1. [Epub ahead of print] PubMed PMID: 28718082.

Shi H, Enriquez A, Rapadas M, Martin EM, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes J, Sugimoto K, Humphreys D, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho J, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL. NAD Deficiency, Congenital Malformations and Niacin Supplementation. NEJM (Accepted May 2017)

Wade EM, Daniel P.B. Jenkins Z.A. , McInerney-Leo AM, Leo PJ, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Conway RL, Duba HC, Fletcher E, Kim CA, Krakow D, Neuhann T, Superti-Furga A, Veenstra-Knol A, Wieczorek D, Wilson LC, Hennekam RCM, Sutherland-Smith AJ, Strom TM, Wilkie AOM, Brown MA, Duncan EL, Markie DM, Robertson SP. Mutations in MAP3K7 and TAB2 that alter the activity of the TAK1 signalling complex cause frontometaphyseal dysplasia. Am J Hum Genet. 2016 Aug 4;99(2):392-406

McInerney-Leo AM, Harris JE, Gattas M, Peach EE, Sinnott S, Dudding-Byth T, Rajagopalan S, Barnett CP, Anderson LK, Wheeler L, Brown MA, Leo PJ, Wicking C, Duncan E. Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. Hum Mutat. 2016 Jul;37(7):695-702

Cortés CR*, McInerney-Leo AM,* Vogel I, Rondón Galeano MC, Leo PJ, Harris JE, Anderson LK, Brown MA, Ramsing M, Duncan EL, Zankl A, Wicking C. Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. Sci Rep. 2016 Apr 20;6:24083. doi: 10.1038/srep24083.

McInerney-Leo A, Sparrow D, Harris J, Gardiner B, Marshall M, O'Reilly V, Shi H, Brown MA, Leo P, Zankl A, Dunwoodie S, Duncan EL Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects Human Molecular Genetics 2015 Mar 1;24(5):1234-42.

McInerney-Leo A, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. Journal of Medical Genetics 2016 Apr 11. pii: jmedgenet-2015-103647. doi 10.1136/jmedgenet-2015-103647.

Lazarus S, McInerney-Leo AM, McKenzie FA, Baynam G, Broley S, Cavan BV, Munns CF, Pruijs JE, Sillence D, Terhal PA, Pryce K, Brown MA, Zankl A, Thomas G, Duncan EL. 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 Musculoskelet Disord. 2014 Mar 27;15:107.

McInerney-Leo A, Harris J, Zankl A, Leo P, Brown MA, Duncan EL COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? Clin Genet Epub May 30 2014)

McInerney-Leo AM, Marshall MS, Gardiner B, Benn DE, McFarlane J, Robinson BG, Brown MA, Leo PJ, Clifton-Bligh RJ, Duncan EL. Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. Clin Endocrinol (Oxf). 2014 Jan;80(1):25-33.

McInerney-Leo AM, Marshall MS, Gardiner B, Coucke PJ, Van Laer L, Loeys BL, Summers KM, Symoens S, West JA, West MJ, Paul Wordsworth B, Zankl A, Leo PJ, Brown MA, Duncan EL. Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. Bonekey Rep. 2013 Dec 4;2:456.

Schmidts M, Vodopiutz J, Christou-Savina S, McInerney-Leo AM, Emes RD, Arts HH, Leo PJ, Giles T, Oud MM, Harris JA, Koopmans M, Marshall M, Elcioglu N, et al Mutations in IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet 2013 Nov 7;93(5):932-44.

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet. 2013 Nov 7;93(5): 915-25. 

Scuffham TM, McInerney-Leo A, Ng SK, Mellick G. Knowledge and attitudes towards genetic testing in those affected with Parkinson's disease. J Community Genet. 2013 Sep 10. [Epub ahead of print] PubMed PMID: 24018619.

McInerney-Leo A, Cortes C, Schmidts M, Leo P, Marshall M, Harris J, Gardiner B, Courtney AD, Zankl A, Mitchison HM, Beales P, Brown MA, Wicking C, Duncan EL. Exome sequencing identifies WDR60 as a novel causative gene in short rib polydactyly and Jeune syndromes.  Am J Hum Genet 2013 Sep 5;93(3):515-23

Sparrow D*, McInerney-Leo A* (joint first), Marshall M, Leo P, Chapman DL, Tasic V, Gucev Z, Duncan EL, Dunwoodie SL. Autosomal Dominant Spondylocostal Dysostosis is Caused by Mutation in TBX6. Hum Mol Genet. 2013 Apr 15;22(8):1625-31.

Hunt L, Peterson M, Sinnott S, Sutton B, Duncombe G, Cincotta R, Chua J, Sivyer P, McInerney-Leo A. Uptake of Invasive Prenatal tests in pregnancies conceived via assisted reproductive technologies. Prenatal Diagnosis 2012 Aug 8:1-4

Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, Okun MS, Gwinn-Hardy K, Singleton AB. Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation. Neurodegener Dis. 2007;4(5):386-91.

McInerney-Leo A, Hadley DW, Kase R, Giambarresi T, Johnson E, Struewing JP and Biesecker BB. BRCA1/2 Testing in Hereditary Breast and Ovarian Cancer Families III: Risk Perception and Screening. Am J Med Genet 2006 (140):2198-206.

Sutton EJ, Young J, McInerney-Leo A, Bondy CA, Biesecker BB. Truth Telling and Turner Syndrome: the importance of diagnostic disclosure J Pediatr 2006; 148:1:102-107

Sutton EJ, McInerney-Leo A, Bondy CA, Gollust S, King D, Biesecker BB. Turner Syndrome:  Four Challenges Across the Lifespan. Am J Med Genet 2005 (139) 57-66

Simon-Sanchez J, Hanson M, Singleton A, Hernandez D, McInerney A, Nussbaum R, Werner J, Gallardo M, Weiser R, Gwinn-Hardy K, Singleton AB, Clarimon J.  Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neurosci Lett. 2005 Jul;382(1-2):191-194. Epub 2005 Apr 1.

Meyer-Lindenberg A, Kohn P.D., Kolachana B, Kippenhan S, McInerney-Leo A., Nussbaum R., Weinberger D.R.& Berman, K.F.  Midbrain dopamine synthesis and prefrontal cortical function are related in humans in vivo and modulated by COMT genotype. Nat Neurosci. 2005 May; 8(5):594-6

McInerney-Leo A.  Comment on “Genetic Testing in Parkinson’s Disease”. Movement Disorders. 2005 July; 20(7): 908-909.

McInerney-Leo A, Hadley DH, Gwinn-Hardy K, Hardy J.  Genetic Testing in Parkinson’s Disease. Movement Disorders. 2005 Jan; 20(1):1-10

Hernandez D, Paisán-Ruz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Whitney Evans E, Berman KF, Johnson J, Auburger G, Schaffer A, Lopez G, Nussbaum RL, Singleton AB. Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Annals Neurology 2005 Mar. 57:3; 453-456

McInerney-Leo A, Biesecker BB, Hadley DW, Kase R, Giambarresi T, Johnson E, Lerman C and Struewing JP. BRCA1/2 Testing in Hereditary Breast and Ovarian Cancer Families II: Impact on Relationships Am J Med Genet Mar 2005;133(2):165-9.

Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB.  Analysis of the PINK1 gene in a large cohort of cases with Parkinson’s Disease. Archives of Neurology 2004 61:1898-1904

Goker-Alpan A, Schiffmann R, LaMarca  ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Parkinsonism Among Gaucher Disease Carriers. J Med Genetics 2004 Dec; 41(12): 937-940

Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB. SNCA multiplication is not a common cause of Parkinson’s disease or dementia with Lewy bodies. Neurology. 2004 Aug 10;63(3):554-6.

McInerney-Leo A, Gwinn-Hardy K, Nussbaum RL. The prevalence of Parkinson's disease in Africa and populations of African ancestry: A review. JNMA 2004; 96:974-979

McInerney-Leo A, Biesecker BB, Hadley DW, Kase R, Giambarresi T, Johnson E, Lerman C and Struewing JP. BRCA1/2 Testing in Hereditary Breast and Ovarian Cancer Families: Effectiveness of Problem Solving Training as a Counselling Intervention.  American Journal of Medical Genetics 2004: Sept 130A(3):221-227

Kelberman D, Tyson J, Chandler DC, McInerney AM, Slee J, Albert D, Aymat A, Botma M, Calvert M, Goldblatt J, Haan EA, Laing NG, Lim J, Malcom S, Singer SL, Winter RM, Bitner-Glindzicz M. Hemifacial Microsomia: progress in understanding the genetic basis of a complex malformation syndrome. Human Genetics 2001: Dec 109(6):638-45

Green M, McInerney AM, Biesecker BB and Fost N. Education about Genetic Testing for Breast Cancer Suscepibility: Patient Preferences for a Computer Program or Genetic Counselor.  American Journal of Medical Genetics 2001 103: 24-31

Green M, McInerney AM, Biesecker BB and Fost N. An interactive computer program can effectively educate patients about genetic testing for breast cancer susceptibility.  American Journal of Medical Genetics 2001: 103: 16-23

Ho NC, McInerney A, Levy H, Francomano CA and Elkayam O. (2000) Minocycline-induced generalized postinflammatory elastoysis.  American Journal of Medicine.  2000;109 (4): 340

Grants and Funding

2019 NHMRC Early Career Fellowship NHMRC Early Career Fellowship Identifying genes causing melanoma and modifying the phenotype and exploring whether genetic fatalism affects sun-related health behaviours in high-risk individuals


HDR students