Our lab uses statistical methodology to describe and model genetic data, by identifying and making use of structure within the data. This pinpoints genomic regions that may harbor disease-causing mutations, as well as provide insight into disease pathogenesis. We implement these models through software development and bespoke data analyses, primarily in the R programming language.

We work on many disease identification projects concurrently, some of which can be readily solved with existing methods and analytic pipelines. Others may prove more challenging, potentially taking years of development and analysis before a breakthrough is achieved. We seek to identify when and where new technologies can be implemented to achieve breakthroughs in studies that have remained unsolved thus far.


Selected publications from Prof Melanie Bahlo

Oliver KL, Scheffer IE, Bennett MF, Grinton BE, Bahlo M, Berkovic SF. Genes4Epilepsy: An epilepsy gene resource. Epilepsia. 2023 Feb 21. Epub ahead of print. PMID: 36808730.

Grinton BE, Robertson E, Fearnley LG, Scheffer IE, Marson AG, O’Brien TJ, Pickrell WO, Rees MI, Sisodiya SM, Balding DJ, Bennett MF, Bahlo M, Berkovic SF, Oliver KL. A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure. Am J Hum Genet. 2022 Nov 3;109(11):2080-2087. PMID: 36288729.

Retinal disorders
Lotta LA, Pietzner M, Stewart ID, Wittemans LBL, Li C, Bonelli R, Raffler J, Biggs EK, Oliver-Williams C, Auyeung VPW, Luan J, Wheeler E, Paige E, Surendran P, Michelotti GA, Scott RA, Burgess S, Zuber V, Sanderson E, Koulman A, Imamura F, Forouhi NG, Khaw KT; MacTel Consortium, Griffin JL, Wood AM, Kastenmüller G, Danesh J, Butterworth AS, Gribble FM, Reimann F, Bahlo M, Fauman E, Wareham NJ, Langenberg C. A cross-platform approach identifies genetic regulators of human metabolism and health. Nat Genet. 2021 Jan;53(1):54-64. PMID 33414548

Bonelli, R., Jackson, V.E., Prasad, A. et al. Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder. Commun Biol 4, 274 (2021). https://doi.org/10.1038/s42003-021-01788-w

Bonelli R, Ansell BRE, Lotta L, Scerri T, Clemons TE, Leung I, MacTel Consortium, Peto T, Bird AC, Sallo FB, Langenberg C, Bahlo M. Genetic Disruption of Serine Biosynthesis is a Key Driver of Macular Telangiectasia Type 2 Etiology and Progression. Genome Med. 2021 Mar 9;13(1):39. doi: 10.1186/s13073-021-00848-4. PMID: 33750426.

Scerri TS, Quaglieri A, Cai C, Zernant J, Matsunami N, Baird L, Scheppke L, Bonelli R, Yannuzzi LA, Friedlander M; MacTel Project Consortium, Egan CA, Fruttiger M, Leppert M, Allikmets R, Bahlo M. Genome-wide analyses identify common variants associated with macular telangiectasia type 2. Nat Genet. 2017 Apr;49(4):559-567. Epub 2017 Feb 27. PMID: 28250457

Repeat Expansion Methods Development and Discoveries
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. PMID: 36493768

Bennett MF, Oliver KL, Regan BM, Bellows ST, Schneider AL, Rafehi H, Sikta N, Crompton DE, Coleman M, Hildebrand MS, Corbett MA, Kroes T, Gecz J, Scheffer IE, Berkovic SF, Bahlo M. Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. Eur J Hum Genet. 2020 Jul;28(7):973-978. PMID: 32203200

Rafehi H, Szmulewicz DJ, Pope K, Wallis M, Christodoulou J, White SM, Delatycki MB, Lockhart PJ, Bahlo M. Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data. Mov Disord. 2020 May 14. PMID: 32407596

Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nat Commun. 2019 Oct 29;10(1):4920. PMID 31664034

Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. Am J Hum Genet. 2019 Jul 3;105(1):151-165. PMID: 31230722

Dolzhenko E, Bennett MF, Richmond PA, Trost B, Chen S, van Vugt JJFA, Nguyen C, Narzisi G, Gainullin VG, Gross AM, Lajoie BR, Taft RJ, Wasserman WW, Scherer SW, Veldink JH, Bentley DR, Yuen RKC, Bahlo M, Eberle MA. ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data. Genome Biol. 2020 Apr 28;21(1):102. PMID: 32345345

Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M. Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data. Am J Hum Genet. 2018 Dec 6;103(6):858-873. PMID: 30503517

Speech disorders
Kaspi, A., Hildebrand, M.S., Jackson, V.E. et al. Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Mol Psychiatry (2022). https://doi.org/10.1038/s41380-022-01764-8

Boyce, JO, Jackson, VE, van Reyk, O, Parker, R, Vogel, AP, Eising, E, et al. Self-reported impact of developmental stuttering across the lifespan. Dev Med Child Neurol. 2022; 64: 1297– 1306. https://doi.org/10.1111/dmcn.15211

Hildebrand MS, Jackson VE, Scerri TS, Van Reyk O, Coleman M, Braden RO, Turner S, Rigbye KA, Boys A, Barton S, Webster R, Fahey M, Saunders K, Parry-Fielder B, Paxton G, Hayman M, Coman D, Goel H, Baxter A, Ma A, Davis N, Reilly S, Delatycki M, Liégeois FJ, Connelly A, Gecz J, Fisher SE, Amor DJ, Scheffer IE, Bahlo M, Morgan AT. Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation. Neurology. 2020 May 19;94(20):e2148-e2167. PMID: 32345733

Identity by descent methods
Henden L, Lee S, Mueller I, Barry A, Bahlo M. Identity-by-descent analyses for measuring population dynamics and selection in recombining pathogens. PLoS Genet. 2018 May 23;14(5):e1007279. PMID: 29791438

Collaborations within WEHI
Cavan Bennett, Victoria E Jackson, Anne Pettikiriarachchi, Thomas Hayman, Ute Schaeper, Gemma L Moir-Meyer, Katherine Louise Fielding, Ricardo Ataide, Danielle Clucas, Andrew James Baldi, Alexandra L Garnham, Connie SN Li-Wai-Suen, Stephen John Loughran, E Joanna Baxter, Anthony R Green, Warren S Alexander, Melanie Bahlo, Kate Burbury, Ashley P Ng, Sant-Rayn Pasricha; Iron homeostasis governs erythroid phenotype in Polycythemia Vera. Blood 2023; blood.2022016779. doi: https://doi.org/10.1182/blood.2022016779

Lab research projects

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