Dr Melanie Bahlo
Melanie Bahlo is an applied statistician working in the areas of statistical genetics, bioinformatics and population genetics. Her main area of research is linkage mapping, in humans and mice. Other areas of interest are genome wide association studies and associated problems. She is currently involved in three genome-wide association studies: MS, Epilepsy and resistance to Hepatitis C treatment.
Her linkage mapping work has seen her map loci for diseases such as epilepsy and deafness. She is particularly interested in SNP chip technologies and how these can be applied to rare disorders.
- Mapping loci in ENU mutants in mice in complex pedigrees
- Investigation of DNA sharing in distantly related individuals
- CNV analysis in pedigrees and connections to linkage studies
- Statistical Genetics
- Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Roberston T, Bayly M, Gardner AE, Vlaar A, Korenke CG, Bloem B, de Coo IF, Verhagen JM, Lehesjoki A-E, Saftig P, Gecz J, Berkovic SF. "Mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia." Am J Hum Genet (in press, accepted April 14, 2011)
- Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A Sofia V, Farrell M, Aguglia U, Andrea Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF. "Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6." Am J Hum Genet (in press, accepted April 8, 2011).
- Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki MB, Savarirayan R, Jackson IJ, Amor DJ. "Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis. Am J Hum Genet 2011, 88(4):508-15.
- Borck G, Rehman AU, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. "Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42." Am J Hum Genet 2011 Feb 11;88(2):127-371.
- Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J. "A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24." Am J Hum Genet 2010 Sep 10;87(3):371-5. PMID: 20797691
- Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J. "Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome." Am J Hum Genet 2010 Jul 9;87(1):52-9. PMID: 20598274
- Bahlo M, Stankovich J, Danoy P, Hickey PF, Taylor BV, Browning SR; Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene), Brown MA, Rubio JP. "Saliva-derived DNA performs well in large-scale, high-density single-nucleotide polymorphism microarray studies." Cancer Epidemiol Biomarkers Prev 2010 Mar;19(3):794-8. PMID: 20200434
- Suppiah V, Moldovan M, Ahlenstiel G, Berg T, Weltman M, Abate ML, Bassendine M, Spengler U, Dore GJ, Powell E, Riordan S, Sheridan D, Smedile A, Fragomeli V, Müller T, Bahlo M, Stewart GJ, Booth DR, George J. "IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy." Nat Genet 2009 Oct;41(10):1100-4. PMID: 19749758
- Bahlo M, Bromhead CJ. "Generating linkage mapping files from Affymetrix SNP chip data." Bioinformatics 2009 Aug 1;25(15):1961-2. PMID: 19435744
- Smyth I, Hacking DF, Hilton AA, Mukhamedova N, Meikle PJ, Ellis S, Satterley K, Collinge JE, de Graaf CA, Bahlo M, Sviridov D, Kile BT, Hilton DJ. "A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis." PLoS Genet 2008 Sep 19;4(9 PMID: 18802465
Current Laboratory Members
Laboratory Head: Melanie Bahlo BSc(Hons) Monash PhD Monash
Senior Postdoctoral Fellow: Natalie Thorne BSc(Hons) Melbourne PhD Melbourne
Postdoctoral Fellow: Thomas Scerri BSc UCL MSc London PhD Oxford
Research Assistant: Luke Gandolfo BA(Hons) Monash BSc(Hons) Monash MA Monash
Research Assistant: Peter Hickey BSc(Hons) Melbourne
Research Assistant: Vesna Lukic BEng(Hons) Melbourne BSc Melbourne MSc Melbourne
Research Assistant: Rick Tankard BSc(Hons) Melbourne
Postgraduate Student: Dineika Chandrananda BSc(Hons) Auckland
Postgraduate Student: Karen Oliver
Postgraduate Student: Katherine Smith BSc(Hons) Melbourne MBiostat Melbourne
Undergraduate Student: Andrew Bennett
Undergraduate Student: David Wakeham BA(Hons) Monash
Administrative Officer: Maria Markovic BA RMIT DipEd LaTrobe