Dr Lorne Lonie

Post-doctoral Research Scientist

 

Lorne studied at Aberdeen University for five years and obtained a BSc Hons degree in Biochemistry and an MSc in Medical Molecular Genetics. He joined the Core Genetics Group in 1998 and oversaw the Core Mutation detection facility until 2007. He completed his D Phil. at the University of Oxford in 2005, on the Molecular Characterisation of Hereditary Multiple Exostoses. In 2008 Lorne was at the forefront of the initial set up of the High Throughput Sequencing facility and currently is the Section Leader for High Throughput Sequencing which entails the management of the Illumina HiSeq and MiSeq systems.

 

Recent publications

Identification and characterization of enhancers controlling the inflammatory gene expression program in macrophages. Ghisletti S, Barozzi I, Mietton F, Polletti S, De Santa F, Venturini E, Gregory L, Lonie L, Chew A, Wei CL, Ragoussis J, Natoli G. Immunity. 2010 Mar 26;32(3):317-28. Epub 2010 Mar 4. [PMID: 20206554]

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia. Gloyn AL, van de Bunt M, Stratton IM, Lonie L, Tucker L, Ellard S, Holman RR. Diabetologia. 2009 Jan;52(1):172-4. Epub 2008 Nov 11. No abstract available. [PMID: 19002431]

Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. Lonie L, Porter DE, Fraser M, Cole T, Wise C, Yates L, Wakeling E, Blair E, Morava E, Monaco AP, Ragoussis J. Hum Mutat. 2006 Nov;27(11):1160. [PMID: 17041877]

Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. Porter DE, Lonie L, Fraser M, Dobson-Stone C, Porter JR, Monaco AP, Simpson AH. J Bone Joint Surg Br. 2004 Sep;86(7):1041-6. [PMID: 15446535]

ProtocadherinX/Y, a candidate gene-pair for schizophrenia and schizoaffective disorder: a DHPLC investigation of genomic sequence. Giouzeli M, Williams NA, Lonie LJ, DeLisi LE, Crow TJ. Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15;129B(1):1-9. [PMID: 15274028]

Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. Fairclough RJ, Lonie L, Van Baelen K, Haftek M, Munro CS, Burge SM, Hovnanian A. J Invest Dermatol. 2004 Jul;123(1):67-71. [PMID: 15191544]

Genetic variation in COL17A1 and the development of bullous pemphigoid. Winsey S, Lonie L, Allen J, Bunce M, Marshall SE, Wojnarowska F. Exp Dermatol. 2004 Mar;13(3):140-7. [PMID: 14987253]

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. Halliday DJ, Hutchinson S, Lonie L, Hurst JA, Firth H, Handford PA, Wordsworth P. J Med Genet. 2002 Aug;39(8):589-93. No abstract available. [PMID: 12161601]

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, Hamel-Teillac D, Ansai S, Mitsuhashi Y, Taïeb A, de Prost Y, Zambruno G, Harper JI, Hovnanian A.J Invest Dermatol. 2002 Feb;118(2):352-61. [PMID: 11841556]

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR. Neurogenetics. 2001 Mar;3(2):107-9. [PMID: 11354824]

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. Dobson-Stone C, Cox RD, Lonie L, Southam L, Fraser M, Wise C, Bernier F, Hodgson S, Porter DE, Simpson AH, Monaco AP. Eur J Hum Genet. 2000 Jan;8(1):24-32. [PMID: 10713884]