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Areas
Diseases
Technologies

About

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.

Publications

Selected publications from Prof Melanie Bahlo AM

Dang YL, Oliver KL, Esnault K, Bahlo M, Perucca P, Berkovic SF. Epilepsy concordance in monozygotic twins: the role of common genetic variants. Brain. 2025;:10.1093/brain/awaf362

Kumar H, Bagdasarova Y, Song S, Hickey DG, Cohn AC, Okada M, Finger RP, Terheyden JH, Hogg RE, Gabrielle P, Arnould L, Jannaud M, Hadoux X, van Wijngaarden P, Abbott CJ, Hodgson LAB, Schwartz R, Tufail A, Chew EY, Lee CS, Fletcher EL, Bahlo M, Ansell BRE, Pébay A, Guymer RH, Lee AY, Wu Z. Deep Learning‐Based Detection of Reticular Pseudodrusen in Age‐Related Macular Degeneration. Clinical and Experimental Ophthalmology. 2025;:10.1111/ceo.14607

Sikta N, Gooley S, Green TE, Hoeper O, Witkowski T, Bennett C, Francis D, Reid J, Mao K, Awad M, Roberts-Thomson S, Bulluss K, Clark J, Scheffer IE, Perucca P, Bennett MF, Bahlo M, Berkovic SF, Hildebrand MS. Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants. Human Molecular Genetics. 2025;34(15):10.1093/hmg/ddaf077

Rayner G, Honybun E, Bahlo M, Oliver KL, Scheffer IE. Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features. Annals of Neurology. 2025;98(1):10.1002/ana.27209

Rosado J, Han J, Obadia T, Munro J, Traore Z, Schoffer K, Brewster J, Bourke C, Vinetz JM, White M, Bahlo M, Gamboa D, Mueller I, Ruybal-Pesántez S. Understanding Plasmodium vivax recurrent infections using an amplicon deep sequencing assay, PvAmpSeq, identity-by-descent and model-based classification. 2025;:10.1101/2025.05.26.25327775

Davies KC, Rafehi H, Fearnley LG, Snell P, Gillies G, Field TA, Halmágyi GM, Kumar KR, Pope K, Smyth R, Tomlinson SE, Tisch S, Tang C-C, Watson SRD, Wellings T, Wu KHC, Szmulewicz DJ, Delatycki MB, Bahlo M, Lockhart PJ. Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort. The Cerebellum. 2025;24(4):10.1007/s12311-025-01867-2

Matuszek Z, Arbab M, Kesavan M, Hsu A, Roy JCL, Zhao J, Yu T, Weisburd B, Newby GA, Doherty NJ, Wu M, Shibata S, Cristian A, Tao YA, Fearnley LG, Bahlo M, Rehm HL, Xie J, Gao G, Mouro Pinto R, Liu DR. Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice. Nature Genetics. 2025;57(6):10.1038/s41588-025-02172-8

Gerring ZF, Bhalala OG, Fearnley LG, Oikari LE, White AR, Derks EM, Watson R, Yassi N, Bahlo M, Reay WR. Drug repurposing candidates for amyotrophic lateral sclerosis using common and rare genetic variants. Brain Communications. 2025;7(3):10.1093/braincomms/fcaf184

Rafehi H, Fearnley LG, Read J, Snell P, Davies KC, Scott L, Gillies G, Thompson GC, Field TA, Eldo A, Bodek S, Butler E, Chen L, Drago J, Goel H, Hackett A, Halmagyi GM, Hannaford A, Kotschet K, Kumar KR, Kumble S, Lee-Archer M, Malhotra A, Paine M, Poon M, Pope K, Reardon K, Ring S, Ronan A, Silsby M, Smyth R, Stutterd C, Wallis M, Waterston J, Wellings T, West K, Wools C, Wu KHC, Szmulewicz DJ, Delatycki MB, Bahlo M, Lockhart PJ. A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.Genome Research. 2025;35(4):10.1101/gr.279634.124

Gambardella A, Liu Y, Bennett MF, Green TE, Damiano JA, Fortunato F, Coleman MJ, Cherfils J, Barnier J, Gecz J, Bahlo M, Berkovic SF, Hildebrand MS. PAK3 pathogenic variant associated with sleep‐related hypermotor epilepsy in a family with parental mosaicism. Epilepsia Open. 2025;10(2):10.1002/epi4.13124

Lab research projects

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