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Curriculum vitae Prof Jeannette Lechner-Scott PhD, FRACP February 2019

Name: JEANNETTE LECHNER-SCOTT Address: 130 Ocean Street Dudley NSW 2290 Australia Email: jeannette.lechnerscott@hnehealth.nsw.gov.au Telephone: Fax: 61 2 49213540 61 2 49213488 Birth date: 04. 04. 65 Nationality: German Marital status: Married to Prof. R.J. Scott Children: Maximilian *1998 Lorenz *2001 Lukas *2001 Residency status: NSW Medical registration: Permanent Resident MPO 335963

Medical Qualifications November 1991 Medical Degree University Heidelberg June 1993 PhD University of Heidelberg January 1998 Specialist in Neurology, FMH Germany August 2003 FRACP Present Employment Senior Staff Specialist Neurology General Medicine John Hunter Hospital Lookout Rd New Lambton Heights NSW 2305 University Career 1984-1985 Medical Faculty, University Padova, Italy 1985-1991 Medical Faculty, University Heidelberg, Germany 1987-1992 PhD, Dept. of CNS- Physiology with Prof. Dr. Zimmermann, University Heidelberg, Germany 2004- 2007 Conjoint Lecturer, University Newcastle, Australia

Nov 2007 Conjoint Senior Lecturer University Newcastle, Australia Nov 2011 Conjoint Associate Professor University of Newcastle June 2017 Conjoint Professor University of Newcastle Society and Board Membership Australasian College of Physicians Australasian Association of Neurologists Advisory Board Member for Bayer, Biogen, Genzyme, Merck, Novartis and TEVA Member of Centre for Information Based Medicine, Hunter Medical Research Institute, University of Newcastle Chair of Australian MS Clinical Trials Network Executive Board member of NSW MS Research & Clinical Trials Network Member of ANZGene consortium Medical and Scientific Board of MS Australia Member of Hunter Medical Post Graduate Institution since 2009 Board Member of Hunter Medical Post Graduate Institution since 2013 Chair of HPMI board since 2017 Member of the Research Management Council of the School for Medicine and Public Health Associate Editor Frontiers of Neurology Editorial Board Member of Translational Medicine & Research Australian Representative for MSA on the International Medical and Scientific Board. Member of the ANZAN scientific and program committee Chief editor for MS and related disorders

Previous Employment 1992-1993 Residency Neurology, University Freiburg, Germany - Pain Clinic - General Neurology 1993-1996 Registrar Neurology, University Hospital, Kantonsspital Basel, Switzerland -General Neurology -MS-clinic -Intensive Care Unit -EEG 1996-1997 Registrar Psychiatric University Switzerland 1997-1998 January 1999 – January 2001 February 2001 – October 2001 Registrar EMG-Department Neurology, University Switzerland Clinic Basel Clinic Basel Medical Registrar John Hunter Hospital, Newcastle, Australia Rotations: General Medicine Cardiology Respiratory Haematology Renal Medicine Infectious Disease & Immunology Maternity Leave

October 2001 – January 2002 Medical Registrar John Hunter Hospital Newcastle, Australia January 2002 –November 2002 Medical Registrar Mater Hospital Newcastle, Australia Rotations: January 2003 – January 2004 General Medicine Oncology Haematology Medical Registrar John Hunter Hospital Newcastle, Australia Rotations: Rheumatology Gastroenterology Orthogeriatrics Current Research Principle Investigator REFLEX multicentre international clinical trial with new formula Rebif for early onset MS DEFINE mutlicentre international clinical trial with oral treatment with BG12 for RR MS ATAMS multicentre international clinical trial with Atacicept for RR MS TOWER mutlicentre international clinical trial with oral treatment with Teriflunomide 2 for RR MS

DECIDE multicentre international clinical trial with daclizumab versus Avonex in RR MS GEMESIS local study investigating the genetic basis of MS MSBasis epidemiological study of MS patients MSCOMET observational trial to compare treatments in RR MS BEGIN multicentre observational study of early onset MS on Betaferon MusiQoL multicentre international Quality of live study for people with MS ENABLE multicenter international study with Fampridine in MS EARLiMS multicentre observational study with oral medication for RRMS NMO study measuring prevalence and presentation of NMO TERACLES multicenter international phase III trial for RRMS with Teriflunomide add on to beta-interferon PREVANZ multicenter Australian phase III trial with Vitamin D in CIS TOP multicenter international phase IV trial with Natalizumab in RRMS FLEX phase II study of spicy drink for spasticity in MS ASCLEPIOS multicenter international phase III trial comparing OFATUMUMAB and teriflunomide ENSEMBLE phase III/IV study of Ocrelizumab as first line treatment AFFINITY multicenter international phase III study Add on Opicinumab POP multicenter international phase IV trial on Plegridy in RRMS

MEDDAY Effect of MD1003 in progressive multiple sclerosis: a randomized double blind placebo controlled study VISIONARY-MS phase 2 study in RRMS for remyelination Co-Investigator ANZgene Australian multicentre study to investigate genetic predisposition to MS Wellcome Trust project International study of genome wide association in MS AUSLONG Extension study to Ausimmune Steering Committee PrevANZ phase III trial for Vitamin D3 in CIS MSFirst phase IV observational safety study on all treatment for MS via MSBase MAN-CDX phase IV trial for cladribine QoL over 2y Safety Committee (Chair) Innate study Associated Editor Frontiers in Neurology Reviewer for Expert opinion on biological therapies Multiple Sclerosis Journal Clinical Epigenetics Journal of Neuroimmunology phase II study with novel product in RR MS

PhD students Mathew B Cox Molecular studies in Multiple Sclerosis Completed September 2013 Moira Graves Cytokines in fatigue and cognition in Multiple Sclerosis Completed December 2015 Kate Sanders microRNA changes in brain of MS patients Completed March 2017 Oun Issa Salman Using Fast spectroscopic imaging sequence to generate metabolic maps of whole brain- Application in MS Jameen Arm Magnetic Resonance Spectroscopy (MRS) in the diagnosis and management of Multiple Sclerosis Kira Groen miRNA expression in red blood cells and extracellualar vesicles in patients with MS Sean Burnard Genetic and molecular differences of Multiple Sclerosis subgroups. Is there a failure in viral and aberrant immune cell clearance driving disease course? Hafiz Rehan Afzal Using artificial intelligence to determine disease risk of multiple sclerosis on MRI Abdulaziz M. Alsheri DTI analysis of multiple sclerosis scans over time Honours Students Samara Bray miRNA expression in MS brains Completed June 2017 Master Students Susan Agland Mindfully Managing Stress in Multiple Sclerosis (MindS) Completed December 2017

Research Grants Current support Funding Agency: Jhh Charitable Trust account Project Title: “How can MRI be used to evaluate Fatigue and depression in MS patients?” Name of investigators: J. Lechner-Scott, S. Ramadan, V. Maltby Value of support: 20,063 Year 2019-2020 Funding Agency: MS Research Australia 18-0424 Project title: Identifying changes in genome-wide DNA methylation associated with MS onset and severity. Name of investigators: R. Scott, J. Lechner-Scott, V. Jokubaitis, M. Slee, R. Lea Value of support: 211,000 Funding year: 2019-2021 Funding Agency: NHMRC Project title: Multiple Sclerosis: Pregnancy and Prognosis Name of Investigators: V. Joukbaitis, A. Van der Walt, P. Mc Combe, K. Hellwig, J. Stankovic, J. Lechner-Scott Value of support: 470,078.80 Funding year:2019-2022. Funding Agency: Merck Project title: Cladribine: Longitudinal Observational Biomarker Australian Study Name of Investigators: J. Lechner-Scott, V. Maltby, H. Butzkueven, B. Taylor, P. McCombe, ,,,, Value of support: 3,425, 653 Funding year: 2019-2028 Funding Agency: APP1152317- NHMRC 2018 Medical Research Future Fund Project title: A randomised placebo-controlled trial of combined mitochondrial agents for the treatment of fatigue and depression in multiple sclerosis with an assessment of the impact on kynurenine pathway metabolomics. Name of Investigators: Ponsonby A-L, Lucas R, Taylor B, nan der Mei I, Jacka F, Fernandes B, Broadley S, Lechner-Scott, Vukcevic D, Christodoulou J. Value of support: 872,763.50 Year of funding: 2018-2023

Funding Agency: Jhh Charitable Trust account Project Title: Further delineation of NK cells in MS activity Name of Investigators: Jeannette Lechner-Scott, Sean Burnad, Myintzu Min Value of support: 35, 307 Year of funding: 2017-2018 Funding Agency: NHMRC APP 1127819- NHMRC 2017-2021 Project Title: What predicts the progressive phase of MS? Name of Investigators: Taylor B, Lucas, R, Lea, R, Kilpatrick T, Scott R, Lechner-Scott J Value of support: 1,791,343 Year of funding: 2017-2022 Funding Agency: Biogen Inc Project Title: Track Australian MS patients Name of Investigators: Butzkueven H, Kalincik T, Lechner-Scott J, Taylor B, Barnett M Value of support: 2,967,594.40 Year of funding: 2017-2022 Funding Agency: MSRA Project Title: Investigation of erythrocyte microRNA content in Multiple Sclerosis Name of Investigators: J. Lechner-Scott, Maltby V Value of support: 18,000 Year of funding 2017-2018 Funding Agency: Jhh Charitable Trust Project Title: Can we unveil the Natural Killer cell masquerade behind multiple sclerosis disease activity? Name of Investigators: J Lechner-Scott, M Min Value of support: 20,000 Year of funding: 2017-2018. Funding Agency: MSRA Project Title: A Phase II Randomised Controlled Trial of An early Tailored Cognitive Behavioural Therapy Based Intervention for Depression in Those Newly Diagnosed with Multiple Sclerosis (ACTION-MS)

Name of Investigators: L. Kiropulos, T. Kilpatrick, Butzkueven H, Lechner-Scott J, Kalincik T, MacDonald E, Shaw S Value of support: 270,044 Year of funding 2016-2018 Funding Agency: Global TEVA Project Title: Comparison of cognitive screening tools in multiple sclerosis and the association with employment status. Name of Investigators: Lechner-Scott J, Ribbons K Value of support: 67,000 Year 2016 Funding Agency: HMRI Project Title: Magnetic resonance spectroscopic GABA scanning of brain of MS patients for biochemical changes. Name of Investigators: Ramadan S, Lechner-Scott J Value of support: 20,000 Year 2016 Funding Agency: HMRI Project Title: The effect of treatment on patients with MS. Name of Investigators: Maltby V, Lea R, Lechner-Scott J Value of support: 20,000 Year 2016 Funding Agency: MSRA Project Title: Unifying genomics and methylation studies of multiple sclerosis Name of Investigators: Lechner-Scott J, Maltby V, Lea R, Butzkueven H, Taylor B, Scott R Value of support: 220,000 Year 2015-2017 Poster presentation at ectrtims in Barcelona 2015, poster presentation at actrims in New Orleans 2016 Publication in Clin Epigenetics in 2015 Funding Agency: Novartis Project Title: The effect of Gilenya (fingolimod) on cognitive performance in multiple sclerosis Name of Investigators: Lechner-Scott J, Ribbons K, Mountford C

Value of Support: 416,061 Year 2014-2018 Poster presentation at ectrims in Barcelona 2016, poster presentation at MSRA meeting in Melbourne 2016 Funding Agency: Biogen Project Title: Effect of Dimethyl Fumarate (Tecfidera) on microstructure and biochemistry in the brain of MS patients. Name of Investigators: Lechner-Scott J, Ribbons K, Mountford C Value of Support: 200,090 Year 2015-2017 Poster presentation at ectrims in Barcelona 2016 Past support Funding Agency: NHMRC Project Title: Functional assessment of CD40 in the development of Multiple Sclerosis Name of investigators: J. Field, H. Butzkueven, D. Booth, T. Kilpatrick, J. Lechner-Scott Value of Support: 504,959 Year 2014-2015 Publication in Plos Genetics accepted in 2015 Publication in Plos One in 2014 Funding Agency: HMRI Project Title: Characterization of non-genetic factors causing Multiple Sclerosis. Names of Investigators: Maltby V, Lea R, Lechner-Scott J Value of Support: 30,000 Year: 2014 Publication in Clin Epigenetics in 2015 Funding Agency: NHMRC Project title: Clinical implication of IL7R genotype: from disease risk to disease management. Name of Investigators: G.Stewart, D.Booth, F. McKay, S. Vucic, J. Lechner-Scott et al. Value of Support: 606,767 Year 2013-2014 Funding Agency: John Hunter Charitable Trust Project Title: MicroRNA expression in multiple sclerosis brain tissue

Names of Investigators: Lechner-Scott J, Boyle, M Value of Support: 12,698.52 Year: 2013 Poster presentation in ectrims/actrims in Boston 2014 and Barcelona in 2015 Funding Agency: CSL Project title: Prevalence of MS in Newcastle Name of Investigators: K. Ribbons, J. Lechner-Scott Value of Support: 40,000 Year: 2013-2014 Poster presentation at ectrims in Barcelona 2015 Funding Agency: Novartis Project Title: Gender differences in rate of neuronal degeneration Name of Investigators: J. Lechner-Scott, K. Ribbons Value of Support: 67,250 Year: 2012-2013 Poster presentation at ectrims/actrims in Boston 2014 Funding Agency: Bayer Health Care Project Title: Cytokine in cognition and fatigue in MS, IST Names of Investigators: J. Lechner-Scott Value of Support: 67,000 Year: 2010-2013 Poster presentation at ectrims/actrims in Boston 2014 Funding Agency: Biogen Idec Project Title: Cytokine in cognition and fatigue in MS, IST Names of Investigators: J. Lechner-Scott Value of Support: 102,000 Year: 2010-2013 Poster presentation at ectrims/actrims in Boston 2014 Funding Agency: John Hunter Hospital Charitable Trust Project Title: Epigenetic effects on risk of developing Multiple Sclerosis J. Lechner-Scott, M. Boyle, D. Mossman Value of Support: 29,919 Year: 2012

Seeding funding for MSRA grant of 220,000 Funding Agency: Hunter Medical Research Institute Project Title: The cytokine gene expression profile in multiple sclerosis patients with chronic fatigue Names of Investigators: K. Ribbons, J. Lechner-Scott Value of Support: 25,000 Year: 2012 Funding Agency: Hunter Medical Research Institute Project Title: MicroRNA in Multiple Sclerosis Names of Investigators: J. Lechner-Scott, R. Scott Value of Support: 25,000 Year: 2010 Publication in PlosOne in 2010 Funding Agency: Sanofi-Aventis Project Title: Cytokine in cognition and fatigue in MS, IST Names of Investigators: J. Lechner-Scott Value of Support: 30,000 Year: 2010 Presentation at ectrims in Barcelona in 2015 Funding Agency: NHMRC Project Title: Susceptibility to Multiple Sclerosis, 633275 Names of Investigators: The ANZGene Consortium Value of Support: 836,011 Start Year 2010- End Year 2012. Publication in Nature Genetics in 2009 Publication in Nature 2011 Funding Agency: Hunter Medical Research Institute Project Title: Expression profile in Multiple Sclerosis Names of Investigators: Lechner-Scott J., Scott R. Value of Support: 25,000 Year 2011 Publication in Mult Scler 2013 Funding Agency: John Hunter Hospital Charitable Trust

Project Title: Association of intrathecal antibody production with P2X7 gene polymorphism Names of Investigators: Lechner-Scott J., Williams D. Value of Support: 18,000 Year: 2011 Publication in Hum Mol Gen in 2015 Funding Agency: Hunter Medical Research Institute Project Title: The cytokine gene expression profile in multiple sclerosis patients with chronic fatigue Names of Investigators: Ribbons K., Lechner-Scott J. Value of Support: 25,000 Year: 2011 Presentation at ectrims in Barcelona in 2015 Funding Agency: John Hunter Hospital Charitable Trust Project Title: Expression profile in Multiple Sclerosis Names of Investigators: Lechner-Scott J, Boyle M. Value of Support: 29,000 Year: 2011 Publication in Mult Scler in 2013 Funding Agency: Sanofi-Aventis Project Title: Cytokine in cognition and fatigue in MS, IST Names of Investigators: Lechner-Scott J. Value of Support: 30,000 Year: 2010 Presentation at ectrims in Barcelona in 2015 Funding Agency: NHMRC Project Title: Finemapping of Chromosome 12, 628705 Names of Investigators: The Australia and New Zealand Multiple Sclerosis Genetics Consortium Value of Support: 820,000 Start Year: 2009 - End Year: 2009 Publication in Nature Genetics in 2009 Publication in Nature 2011 Funding Agency: Brain Foundation Project Title: ANZ NMO Collaboration Names of Investigators: S. Broadley, R. Heard, B. Brew, J. Lechner-Scott Value of Support: 40,000 Start Year: 2009 – End Year: 2009 Presentation at Pactrims 2015 in Seoul

Funding Agency: John Hunter Hospital Charitable Trust Project Title: Disease specific polymorphisms in MS Names of Investigators: J. Lechner-Scott, D. Williams Value of Support: 15,208 Start Year: 2008 - End Year: 2008 Publication in Mult Scler 2012 Funding Agency: MSRA Project Title: Immunogenetic Profiles in MS Names of Investigators: J. Lechner-Scott, R.J. Scott, D. Williams, P. Mascato Value of Support: 40,000 Start Year: 2006 - End Year: 2007 Publication in Nature Genetics in 2009 Publication in Nature 2011 Funding Agency: Australian Research Council (ARC) Project Title: Identifying genes for clinical course and susceptibility in multiple sclerosis Names of Investigators: Kilpatrick T., PerreauV., Foote S.J., Griffiths L.R., Stankovich J.M.,Rubio J.P., Bahlo M., Booth D.R., Butzkueven H., Heard R., Lechner-Scott J., Wiley J.S. Value of Support: 400,000 Start Year: 2007 - End Year: 2009 Publication in Nature Genetics in 2009 Publication in Nature 2011 Funding Agency: Newcastle Permanent Building Society Project Title: GeMeSiS - Immunogenetic Profiles in MS Names of Investigators: J. Lechner-Scott Value of Support: 17,850 Start Year: 2007 - End Year: 2007 Publication in Nature Genetics in 2009 Publication in Nature 2011 Funding Agency: John Hunter Hospital Charitable Trust Project Title: Immunogenetic Profiles in MS Names of Investigators: J. Lechner-Scott, R.J. Scott, D. Williams, P. Moscato Value of Support: 12,850 Start Year: 2005 – End Year: 2005

Publication in Nature Genetics in 2009 Publication in Nature 2011

Peer Reviewed Articles 6237 citations h-Index 32 i10 index 76 Period 1990-2000 1Carstens, E., Leah, J., Lechner, J. and Zimmermann,M. (1990) Demonstration of extensive brainstem projections to medial and lateral thalamus and hypothalamus in the rat. Neuroscience 35: 609-626. IF 3.5 CI 63 2 Lechner, J., Leah, J. and Zimmermann, M. (1993) Brainstem peptidergic neurons projecting to the medial and lateral thalamus, and zona incerta in the rat. Brain Res. 603: 47-56.IF 2.5 CI 30 3 Lechner, J., Steiger, R. and Ochsner,P. (1993) Die operative Behandlung der GaleazziFraktur. Unfallchir. 96: 18-23. IF 0.6 CI 3 4 Lechner-Scott, J., Scott, R. Steck, A.J. und Kappos, L. (1995) Hereditäre motorischsensible Neuropathien. Klinische und molekulargenetische Aspekte. Schweizer Archiv Neurol. 146: 157-167. *5 Lechner-Scott, J., Engelter, S., Steck, A.J., Dellas, S., Tolnay, M., Probst, A. (1996) A case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy confirmed by sural nerve biopsy. J.Neurol. Neurosurg. Psych. 60: 235-236. IF 4.8 Citations16 6 Huber, S., Spycher, M., Lechner-Scott, J., Bellaiche, Y., Steck, A.J., Kappos, L. (1996) Multiple Sklerose: Therapie mit rekombinanten Interferon beta 1b. Schweiz. Med. Wochenschr. 126: 1475-1481. *7 Roelcke, U., Kappos, L. Lechner-Scott J et al. (1997) Reduced glucose metabolism in the caudate nucleus and prefrontal cortex in multiple sclerosis patients with fatigue. A 18 F-fluordeoxyglucose positron emission tomography study. Neurology 48: 15661571.IF 4.6 . Citations 221

*8 Willimann, P., Lechner-Scott, J., Ferracin, F., Miescher, G., Steck, A.J. (1997) klinische Bedeutung der Anti-GQ1b-Antikörper bei Patienten mit Miller-Fisher-Syndrom. Akt. Neurologie 24: 67-70. 9 Lechner-Scott, J., Steck, A.J., Scott R. J. (1997) Genetische Untersuchungen in der Neurologie. Schweiz. Med. Wochenschr. 127: 1141-1153. 10 G. Scollo-Lavizzari und J. Lechner-Scott (1997) Synkopen aus neurologischer Sicht. Therapeut. Umschau 54: 135-143. *11Plohmann, A.,M., Kappos, L., Ammann, W., Thordai, A., Wittwer, A., Bellaiche, Y., Huber, S., Lechner-Scott, J. (1998) Computer assisted retraining of attentional impairments in patients with Multiple Sclerosis. J. Neurol. Neurosurg. Psychiatry 64: 455-462. 12 Confavreux, C., Hutchinson, M., Hours, M.F., Cortinovis, P., Moreau, T. et al. (1998) Rate of pregnancy-related relapse in multiple sclerosis. N Engl. J.Med. 339: 285291.IF 22.4 CI 640 13 European Study Group (1998) Placebo-controlled multicentre randomised trial of interferon beta-1b in treatment of secondary progressive multiple sclerosis. Lancet 352: 1491-1497. IF 30.7 CI 580 14Lienert C, Lechner-Scott J, Schött D, Constantinescu C, Kappos L (1999) Use of composite scores in the quantification of deterioration in multiple sclerosis. Multiple Sclerosis 5: 220-222. 15 Ritz MF, Lechner-Scott J, Scott RJ, Steck AJ (2000) Autoantibodies to PMP22 in opatients with hereditary and acquired neuropathies. J. of Neuroimmunology 104: 155163. Period 2000-2010 *16 Lechner-Scott J, Kappos L, Hofman M, Polman Ch, Montalban X., Frontoni M et al. (2003) Can the Expanded Disability Status Scale (EDSS) be assessed by phone? Multiple Sclerosis 9: 154-159.

17 Vukusic S, Hutchinson M, Hours M, Moreau T, Cortinovis-Tourniaire P, Adeleine P, Confavreux C, The Pregnancy In Multiple Sclerosis Group; Pregnancy In MultipleSclerosis Group. Pregnancy and multiple sclerosis (the PRIMS study): clinical predictors of post-partum relapse. Brain. 2004 Jun;127(Pt 6):1353-60. Epub 2004 May 6. 18 Stankovich J, Butzkueven H, Marriott M, Chapman C, Tubridy N, Taite BD, Varney D, Taylor B, Foote SH, The ANZGene Consortium, Kilpatrick TJ, Rubio JP. HLA-DRB1 associations with disease susceptibility and clinical course in Australians with multiple sclerosis. Tissue Antigens. 2009 Jul;74(1):17-21. Epub 2009 Apr 21. *19The Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene)*Genome-wide association scan identifies novel multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nat Genet. 2009 Jul;41(7):824-8. Epub 2009 Jun 14. 20 Bahlo M, Stankovich J, Danoy P, Hickey PF, Taylor BV, Browning SR, The Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene)*, Brown MA, Rubio JP. Saliva derived DNA performs well in large-scale, high-density SNP microarray studies. Cancer Epidemiol Biomarkers Prev. 2010 Mar;19(3):794-8. IF 4.3 21 Jensen CJ, Stankovich J, Van der Walt A, Bahlo M, Taylor BV, van der Mei IA, Foote SJ, Kilpatrick TJ, Johnson LJ, Wilkins E, Field J, Danoy P, Brown MA; Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene), Rubio JP, Butzkueven H.Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients. PLoS One. 2010 Apr 2;5(4):e10003. IF 4.35 *22 Gandhi KS, McKay FC, Cox MB, Riveros C, Heard RN, Vucic S, Williams DW, Stankovich J, Brown M, Danoy P , Stewart GJ, Broadley S, Moscato P, Lechner-Scott J, Scott RJ, Booth DR, ANZgene Multiple Sclerosis Genetics Consortium.The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis. Hum Mol Gen 2010 Jun 1;19(11):2134-43.IF 7.38 CI 9

23 Ban M, McCauley JL, Zuvich R, Baker A, Bergamaschi L, Cox MB, Kemppinen A, D'Alfonso S, Lechner-Scott J, DeJager P, Hafler DA, Barcellos LF, Ivinson AJ, PercakVance MA, Oksenberg JR, Hauser SL, Sexton D, Haines J, Compston A, Sawcer S. A non-synonymous SNP within membrane metallopeptidase-like 1 (MMEL1) is associated with multiple sclerosis. Genes Immun 2010; Jun 24.IF 4.2 24 International Multiple Sclerosis Genetics Consortium (IMSGC)* Booth D, Heard R, Stewart G, Cox MB, Scott RJ, Lechner-Scott J et al. Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis. Nat Genet. 2010 Jun;42(6):469-70. IF 26.446 25 Lechner-Scott J, Kerr T, Spencer B, Agland S, Lydon A, Schofield PW. The Audio recorded Cognitive Screen (ARCS) in patients with Multiple Sclerosis: A practical tool for MS clinics. Mult Scler. 2010 Sep;16(9):1126-33. 26 International Multiple Sclerosis Genetics Conssortium (IMSGC). IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci. Genes Immun. 2010 Jul;11(5):397-405. Epub 2010 Jun 17. *27 Cox MB, Cairns MJ, Gandhi KS, Carroll AP, Moscovis S, Stewart G, Broadley S, Scott RJ, Booth DR, Lechner-Scott J, ANZgene Consortium. MicroRNAs miR-17 and miR-20a inhibit T cell activation genes and are under-expressed in MS whole blood. PLoS One. 2010 Aug 11;5(8):e12132. 28 Field, J, Browning SR, Johnson LJ, Danoy P, Varney MD, Tait BD, Gandhi KS, Charlesworth JC, Heard RN, ANZGene Consortium, Stewart GJ, Kilpatrick TJ, Foote, SJ, Bahlo M, Butzkueven H, Wiley JW, Booth DR, Taylor BV, Brown MA, Rubio JP, Stankovich J. A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis. PLoS One. 2010 Oct 26;5(10):e13454. IF 4.3 29 Riveros C, Mellor D, Gandhi KS, McKay FC, Cox MB, Berretta R, Vaezpour SY, Inostroza-Ponta M, Broadley SA, Heard RN, Vucic S, Stewart GJ, Williams DW, Scott RJ, Lechner-Scott J, Booth DR, Moscato P; ANZgene Multiple Sclerosis Genetics Consortium. A transcription factor map as revealed by a genome-wide gene expression analysis of whole-blood mRNA transcriptome in multiple sclerosis PLoSOne. 2010 Dec 1;5(12):e14176

Period from 2011 30 Ritchie ME, Carvalho BS, Hetrick KN, Irizarry RA and The Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene Consortium) Comparing genotyping algorithms for Illumina’s Infinum whole-genome SNP BeadChips. BMC Bioinformatics. 2011 Mar 8;12:68 IF 4.9 31 Ma GZ, Stankovich J; Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene), Kilpatrick TJ, Binder MD, Field J. Polymorphisms in the Receptor Tyrosine Kinase MERTK Gene Are Associated with Multiple Sclerosis Susceptibility. PlosOne 2011 Feb 8(6),e16964. IF 4.3 32 Wang J, Pappas D, De Jager P, Pelletier J, deBakker PW, Kappos L, Polman CH, Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene), Chibnik LB, Hafler DF, Matthews PM, Hauser SL, Baranzini SE, Oksenberg JR Modeling the Cumulative Genetic Risk for Multiple Sclerosis from Genome Wide Association Data. Genome Med. 2011 Jan 18;3(1):3. IF 2.6 33 O’Gorman C, Freeman S, Taylor BV, Butzkueven H Australian and New Zealand MS Genetics Consortium (ANZgene), Broadley SA. Familial recurrence risks for multiple sclerosis in Australia. J Neurol Neurosurg Psychiatry. 2011 Dec;82(12):1351-4. IF 4.8. 34 The International Multiple Sclerosis Genetics Consortium (IMSGC) and the Wellcome Trust Case Control Consortium 2 (WTCCC2)*. International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2, Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela J, Bellenguez C, Fontaine B, Gillman M, Hemmer B, Gwilliam R, Zipp F, Jayakumar A, Martin R, Leslie S, Hawkins S, Giannoulatou E, D'alfonso S, Blackburn H, Martinelli Boneschi F, Liddle J, Harbo HF, Perez ML, Spurkland A, Waller MJ, Mycko MP, Ricketts M, Comabella M, Hammond N, Kockum I, McCann OT, Ban M, Whittaker P, Kemppinen A, Weston P, Hawkins C, Widaa S, Zajicek J, Dronov S, Robertson N, Bumpstead SJ, Barcellos LF, Ravindrarajah R, Abraham R, Alfredsson L, Ardlie K, Aubin C, Baker A, Baker K, Baranzini SE, Bergamaschi L, Bergamaschi R,

Bernstein A, Berthele A, Boggild M, Bradfield JP, Brassat D, Broadley SA, Buck D, Butzkueven H, Capra R, Carroll WM, Cavalla P, Celius EG, Cepok S, Chiavacci R, Clerget-Darpoux F, Clysters K, Comi G, Cossburn M, Cournu-Rebeix I, Cox MB, Cozen W, Cree BA, Cross AH, Cusi D, Daly MJ, Davis E, de Bakker PI, Debouverie M, D'hooghe MB, Dixon K, Dobosi R, Dubois B, Ellinghaus D, Elovaara I, Esposito F, Fontenille C, Foote S, Franke A, Galimberti D, Ghezzi A, Glessner J, Gomez R, Gout O, Graham C, Grant SF, Guerini FR, Hakonarson H, Hall P, Hamsten A, Hartung HP, Heard RN, Heath S, Hobart J, Hoshi M, Infante-Duarte C, Ingram G, Ingram W, Islam T, Jagodic M, Kabesch M, Kermode AG, Kilpatrick TJ, Kim C, Klopp N, Koivisto K, Larsson M, Lathrop M, Lechner-Scott JS, Leone MA, Leppä V, Liljedahl U, Bomfim IL, Lincoln RR, Link J, Liu J, Lorentzen AR, Lupoli S, Macciardi F, Mack T, Marriott M, Martinelli V, Mason D, McCauley JL, Mentch F, Mero IL, Mihalova T, Montalban X, Mottershead J, Myhr KM, Naldi P, Ollier W, Page A, Palotie A, Pelletier J, Piccio L, Pickersgill T, Piehl F, Pobywajlo S, Quach HL, Ramsay PP, Reunanen M, Reynolds R, Rioux JD, Rodegher M, Roesner S, Rubio JP, Rückert IM, Salvetti M, Salvi E, Santaniello A, Schaefer CA, Schreiber S, Schulze C, Scott RJ, Sellebjerg F, Selmaj KW, Sexton D, Shen L, Simms-Acuna B, Skidmore S, Sleiman PM, Smestad C, Sørensen PS, Søndergaard HB, Stankovich J, Strange RC, Sulonen AM, Sundqvist E, Syvänen AC, Taddeo F, Taylor B, Blackwell JM, Tienari P, Bramon E, Tourbah A, Brown MA, Tronczynska E, Casas JP, Tubridy N, Corvin A, Vickery J, Jankowski J, Villoslada P, Markus HS, Wang K, Mathew CG, Wason J, Palmer CN, Wichmann HE, Plomin R, Willoughby E, Rautanen A, Winkelmann J, Wittig M, Trembath RC, Yaouanq J, Viswanathan AC, Zhang H, Wood NW, Zuvich R, Deloukas P, Langford C, Duncanson A, Oksenberg JR, Pericak-Vance MA, Haines JL, Olsson T, Hillert J, Ivinson AJ, De Jager PL, Peltonen L, Stewart GJ, Hafler DA, Hauser SL, McVean G, Donnelly P, Compston A Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature. 2011 Aug 10;476(7359):214-9 IF 34.5 35 Malhotra S, Morcillo-Suárez C, Brassat D, Goertsches R, Lechner-Scott J, Urcelay E, Fernández O, Drulovic J, García-Merino A, Martinelli Bones

Name of investigators: J. Lechner-Scott, S. Ramadan, V. Maltby Value of support: 20,063 Year 2019-2020 Funding Agency: MS Research Australia 18-0424 Project title: Identifying changes in genome-wide DNA methylation associated with MS onset and severity. Name of investigators: R. Scott, J. Lechner-Scott, V. Jokubaitis, M. Slee, R. Lea

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