Noriko Isobe, M.D., Ph.D.

I am quite interested in how much genetic background contributes to multiple sclerosis (MS) susceptibility in different populations and efficacy of disease modifying therapies. My colleagues and I are also working on the association of individual cumulative genetic burdens and clinical and MRI phenotypes of MS.

Education and Training

  • 1997-2003 M.D., School of Medicine, Kyushu University, Japan
  • 2003-2004 Resident Kyushu University Hospital
  • 2004-2007 Neurological Resident Department of Neurology, Kyushu University Hospital/Saiseikai Fukuoka General Hospital
  • 2007-2010 Ph.D., Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
  • Awards and Honors
    • 2009 Travel grant for 26th Congress of European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS)
    • 2010 Travel grant for 27th Congress of ECTRIMS in Göteborg, Sweden
    • 2010 Grant for Research on Intractable diseases, The Association for Preventive Medicine of Japan
    • 2011 Post-doctoral Fellowship, The Uehara Memorial Foundation
    • 2011 Young Investigator Award, the 4th Congress of the Pan-AsianCommittee for Treatment and Research in Multiple Sclerosis (PACTRIMS)
    • 2011 Young Neuroimmunologist Award, the 23rd Annual Meeting of the Japanese Society for Neuroimmunology
    • 2012-2014 Postdoctoral Fellowship for Research Abroad, Japan Society for the Promotion of Science (JSPS)
    • 2014-2015 Research Fellowship for Young Scientists (PD), JSPS
  • Recent Publications
    • Isobe N, Keshavan A, Gourraud PA, Zhu AH, Datta E, Schlaeger R, Caillier SJ, Santaniello A, Lizée A, Himmelstein DS, Baranzini SE, Hollenbach J, Cree BA, Hauser SL, Oksenberg JR, Henry RG. Association of HLA Genetic Risk Burden With Disease Phenotypes in Multiple Sclerosis. JAMA Neurol. 2016 (in press).
    • Didonna A, Isobe N, Caillier SJ, Li KH, Burlingame AL, Hauser SL, Baranzini SE, Patsopoulos NA, Oksenberg JR. A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome. Hum Mol Genet. 2015; 24:7151-8.
    • Isobe N, Madireddy L, Khankhanian P, Matsushita T, Caillier SJ, More JM, Gourraud PA, McCauley JL, Beecham A, International Multiple Sclerosis Genetics Consortium, Piccio L, Herbert J, Khan O, Cohen J, Stone L, Santaniello A, Cree BAC, Onengut-Gumuscu S, Rich SS, Hauser SL, Sawcer S, Oksenberg JR. An ImmunoChip study of multiple sclerosis risk in African Americans. Brain 2015; 138:1518-30.
    • Nickles D, Madireddy L, Patel N, Isobe N, Miller BL, Baranzini SE, Kramer JH, Oksenberg JR. Whole genome sequences of 2 octogenarians with sustained cognitive abilities. Neurobiol Aging 2015; 36:1435-8..
    • Isobe N, Oksenberg JR . Genetic studies of multiple sclerosis and neuromyelitis optica: current status in European, African American, and Asian populations . Clin Exp Neuroimmunol 2014, 5:61-8.
    • Harbo HF, Isobe N, Berg-Hansen P, Bos SD, Caillier SJ, Gustavsen MW, Mero IL, Celius EG, Hauser SL, Oksenberg JR, Gourraud PA. Oligoclonal bands and age at onset correlate with genetic risk score in multiple sclerosis. Mult Scler 2014, 20:660-8.
    • Isobe N, Damotte V, Lo Re V, Ban M, Pappas D, Guillot-Noel L, Rebeix I, Compston A, Mack T, Cozen W, Fontaine B, Hauser SL, Oksenberg JR, Sawcer S, Gourraud PA. Genetic burden in multiple sclerosis families. Genes Immun 2013, 14:434-40.
    • Isobe N, Gourraud PA, Harbo HF, Caillier SJ, Santaniello A, Khankhanian P, Maiers M, Spellman S, Cereb N, Yang S, Pando MJ, Piccio L, Cross AH, De Jager PL, Cree BA, Hauser SL, Oksenberg JR. Genetic risk variants in African Americans with multiple sclerosis. Neurology 2013, 81:219-27.
    • McElroy JP, Isobe N, Gourraud PA, Caillier SJ, Matsushita T, Kohriyama T, Miyamoto K, Nakatsuji Y, Miki T, Hauser SL, Oksenberg JR, Kira J. SNP-based analysis of the HLA locus in Japanese multiple sclerosis patients. Genes Immun 2011, 12:523-30.
    • Fang L,* Isobe N,* Yoshimura S, Yonekawa T, Matsushita T, Masaki K, Doi H, Ochi K, Miyamoto K, Kawano Y, Kira J for the South Japan Multiple Sclerosis Genetics Consortium. Interleukin-7 receptor alpha gene polymorphism influences multiple sclerosis risk in Asians. Neurology 2011, 76:2125-7. (*contributed equally)
    • Isobe N, Kira J, Kawamura N, Ishizu T, Arimura K, Kawano Y. Neural damage associated with atopic diathesis: a nationwide survey in Japan. Neurology 2009, 73:790-7.

Alessandro Didonna, Ph.D.

My main research interest is to move from genes to function, in order to understand how genetic variability mechanistically leads to an increased risk of developing multiple sclerosis (MS). Additionally, I have been using genomic tools and mouse genetics to understand MS pathophysiology.

  • 2001-2004 B.S, Cell and Molecular Biology, University of Bari, Italy
  • 2004-2006 M.S, Molecular Biology, University of Bari, Italy
  • 2006-2010 Ph.D., Prion Diseases, International School for Advanced Studies, Italy
  • 2011-2013 Postdoctoral Fellow, Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL
  • 2013-Present Postdoctoral Fellow, Department of Neurology, University of California, San Francisco, CA
  • Awards and Honors
    • 2015-2017 Italian Multiple Sclerosis Foundation (FISM) Senior Research Fellowship
    • 2015 Travel grant for the 140th Annual Meeting of the American Neurological Association
  • Recent Publications
    • A. Didonna. Preclinical Models of Multiple Sclerosis: Advantages and Limitations towards Better Therapies. Current Medicinal Chemistry 2016 23:1421-38.
    • A. Didonna, F. Benetti. Post-translational modifications in neurodegeneration. AIMS Biophysics 2016 3(1): 27-49.
    • A. Didonna, N. Isobe, S. J. Caillier, K. H. Li, A. L. Burlingame, S. L. Hauser, S. E. Baranzini, N. A. Patsopoulos and J. R. Oksenberg. A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome. Human Molecular Genetics 2015 24(24):7151-8.
    • A. Didonna, A. C. Venturini, K. Hartman, T. Vranac, V. C. Serbec and G. Legname. Characterization of four new monoclonal antibodies against the distal N-terminal region of PrPc. PeerJ 2015 3:e811.
    • A. Didonna and J. R. Oksenberg. Genetic determinants of risk and progression in multiple sclerosis. Clinica Chimica Acta 2015 449:16-22.
    • A. Didonna and P. Opal. The promise and perils of HDAC inhibitors in neurodegeneration. Annals of Clinical and Translational Neurology 2015 2:79-101.
    • A. Venkatraman*, Y. S. Hu*, A. Didonna*, M. Cvetanovic*, A. Krbanjevic*, P. Bilesimo and P. Opal. The histone deacetylase HDAC3 is essential for Purkinje cell function, potentially complicating the use of HDAC inhibitors in SCA1. Human Molecular Genetics 2014 Jul 15;23(14):3733-45. *These authors equally contributed to the study.
    • A. Didonna. Prion protein and its role in signal transduction. Cellular and Molecular Biology Letters 2013 Jun;18(2):209-30.
    • A. Didonna, J. Sussman, F. Benetti, G. Legname. The role of Bax and caspase 3 in Doppel induced apoptosis of cerebellar granule cells. Prion 2012 Jul 1;6(3).
    • A. Didonna and G. Legname. Aberrant ERK 1/2 complex activation and localization in scrapie-infected GT1-1 cells. Molecular Neurodegeneration 2010 Aug 9;5:29.

Ester Cantó Puig, Ph.D.

Multiple Sclerosis (MS) is a complex disease in which both environmental and genetic factors are involved. My main interest is finding the association between the genes related to MS and their role in the disease by means of the study of the different activation pathways in a variety of blood cell populations and the relation with the genetic load and the disease phenotype, as well as the response to particular treatments.

Education and Training

  • 2003-2008 BS, Pharmacy, Universitat de Barcelona, Spain
  • 2008-2009 Master’s degree in immunology; Universitat Autònoma de Barcelona – Universitat de Barcelona, Spain
  • 2009-2015 PhD, Multiple Sclerosis, Universitat Autònoma de Barcelona, Spain
  • Recent Publications
    • Comabella M, Cantó E, Nurtdinov R, Río J, Villar LM, Picón C, Castilló J, Fissolo N, Aymerich X, Auger C, Rovira A, Montalban X. MRI phenotypes with high neurodegeneration are associated with peripheral blood B-cell changes. Hum Mol Genet. 2016 Jan 15;25(2):308-16. doi: 10.1093/hmg/ddv473. Epub 2015 Nov 24.
    • Borràs E, Cantó E, Choi M, Maria Villar L, Álvarez-Cermeño JC, Chiva C, Montalban X, Vitek O, Comabella M, Sabidó E. Protein-Based Classifier to Predict Conversion from Clinically Isolated Syndrome to Multiple Sclerosis. Mol Cell Proteomics. 2016 Jan;15(1):318-28. doi: 10.1074/mcp.M115.053256. Epub 2015 Nov 9.
    • Negrotto L, Cantó E, Río J, Tintoré M, Montalban X, Comabella M. Peripheral blood non-MAIT CD8+CD161hi cells are decreased in relapsing-remitting multiple sclerosis patients treated with interferon beta. J Neuroimmunol. 2015 Nov 15;288:98-101. doi: 10.1016/j.jneuroim.2015.09.007. Epub 2015 Sep 25.
    • Cantó E, Tintoré M, Villar LM, Costa C, Nurtdinov R, Álvarez-Cermeño JC, Arrambide G, Reverter F, Deisenhammer F, Hegen H, Khademi M, Olsson T, Tumani H, Rodríguez-Martín L, Piehl F, Bartos A, Zimova D, Kotoucova J, Kuhle J, Kappos L, García-Merino JA, Sánchez AJ, Saiz A, Blanco Y, Hintzen R, Jafari N, Brassat D, Lauda F, Roesler R, Rejdak K, Papuc E, de Andrés C, Rauch S, Khalil M, Enzinger C, Galimberti D, Scarpini E, Teunissen C, Sánchez A, Rovira A, Montalban X, Comabella M. Chitinase 3-like 1: prognostic biomarker in clinically isolatedsyndromes. Brain. 2015 Apr;138(Pt 4):918-31
    • Schwab N, Schneider-Hohendorf T, Pignolet B, Spadaro M, Görlich D, Meinl I, Windhagen S, Tackenberg B, Breuer J, Cantó E, Kümpfel T, Hohlfeld R, Siffrin V, Luessi F, Posevitz-Fejfár A, Montalban X, Meuth SG, Zipp F, Gold R, Du Pasquier RA, Kleinschnitz C, Jacobi A, Comabella M, Bertolotto A, Brassat D, Wiendl H. PML risk stratification using anti-JCV antibody index and L-selectin. Mult Scler. 2015 Oct 2. pii: 1352458515607651. [Epub ahead of print]
    • Cantó E, Tintoré M, Villar LM, Borrás E, Álvarez-Cermeño JC, Chiva C, Sabidó E, Rovira A, Montalban X, Comabella M. Validation of biomarkers associated with the conversion fromclinically isolated syndrome to multiple sclerosis. J Neuroinflammation. 2014 Nov 13;11:181.
    • Fissolo N, Cantó E, Vidal-Jordana A, Castilló J, Montalban X, Comabella M. Levels of soluble TNF-RII are increased in serum of patients with primary progressive multiple sclerosis. J Neuroimmunol. 2014; 271(1-2):56-9.
    • Moreno M, Sáenz-Cuesta M, Castilló J, Cantó E, Negrotto L, Vidal-Jordana A, Montalban X, Comabella M. Circulating levels of soluble apoptosis-related molecules in patients with multiple sclerosis. J Neuroimmunol. 2013; 263(1-2):152-4.
    • Cantó E, Reverter F, Morcillo-Suárez C, Matesanz F, Fernández O, Izquierdo G, Vandenbroeck K, Rodríguez-Antigüedad A, Urcelay E, Arroyo R, Otaegui D, Olascoaga J, Saiz A, Navarro A, Sanchez A, Domínguez C, Caminero A, Horga A, Tintoré M, Montalban X, Comabella M. Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis. Mult Scler. 2012; 18(7)983-90.
    • Comabella M, Fernández M, Martin R, Rivera-Vallvé S, Borrás E, Chiva C, Julià E, Rovira A, Cantó E, Alvarez-Cermeño JC, Villar LM, Tintoré M, Montalban X. Cerebrospinal fluid chitinase 3-like 1 levels are associated with conversion to multiple sclerosis. Brain. 2010; 133 (Pt 4):1082-93.

Past Fellows and Achievements

  • Antonio Uccelli, M.D. (1993-1995) - Professor. Department of Neuroscience, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI). University of Genoa, Italy
  • Yi Li, Ph.D. (1993-1995) - Professor. Dept. Neurology, Norman Bethune University, Jilin, P.R. China
  • Anna M. Schito, Ph.D. (1997-1999) - Scientist, Dept. Oncology Biology and Genetics. Advanced Center of Biotechnology. Genoa, Italy
  • Sergio E. Baranzini, Ph.D. (1997-2001) - Professor. Dept. Neurology, UCSF
  • Lisa Barcellos, Ph.D. (1997-2001) - Professor. Dept. Epidemiology, University of California, Berkeley
  • Ari J. Green, M.D. (2000-2001) - Medical Director of the UCSF Multiple Sclerosis Center and Director of the UCSF Neurodiagnostics Center, UCSF
  • David Brassat, M.D., Ph.D. (2001-2003) - Professor. Dept. Neurology, University of Toulouse, France
  • Uma Sriram, Ph.D. (2003-2007) - Senior Research Associate, University of Pennsylvania
  • Derek Pappas, Ph.D. (2005-2010) - Consultant. Oakland Children Hospital
  • Joseph McElroy, Ph.D. (2005-2011) - Research Scientist, Center for Biostatistics, Ohio State University
  • Enrico Pedemonte, Ph.D. (2006-2007) - Neurology private practice, Genoa, Italy
  • Jean-Christophe Corvol, M.D., Ph.D. (2007-2008) - Professor, INSERM Paris, France
  • Esther Byun, M.D. (2007-2008) - Assistant Professor. Dept Neurology, Loma Linada University, CA
  • Simona Casazza, Ph.D. (2007-2010) - Staff Scientist. University of Genoa, Italy
  • Britt Johnson, Ph.D. (2009-2010) - Medical Geneticists. Invitae Cor[oration
  • Pierre-Antoine Gourraud, Ph.D. (2010-2011) - Professor. INSERM, Nantes, France
  • Takuya Matsushita, M.D., Ph.D. (2012-present) - Assistant Professor, Dept. Neurology, Kyushu University, Fukuoka, Japan