Marcelo Andres Kauffman MD, PhD, MSc

Transcripción

1 Marcelo Andres Kauffman MD, PhD, MSc EDUCATION Medical Doctor. School of Medicine. University of Buenos Aires PhD. PhD Program. School of Medicine. University of Buenos Aires Thesis: Research on the genetics factors of Temporal Lobe Epilepsy. Magister in Medical Molecular Biology. School of Sciences. University of Buenos Aires Master in Neuroscience and Behavioural Biology. University Pablo de Olavide, Spain Neurologist. Residency of Neurology. Hospital JM Ramos Mejia PROFESSIONAL POSITIONS Head of Neurogenetics Clinic. Neurology Division. Hospital JM Ramos Mejia. Buenos Aires. Argentina Assistant Researcher. National Scientific and Research Council (CONICET). Ministry of Science and Technology. Argentina Chief of Residents. Neurology Division. Hospital JM Ramos Mejía. Buenos Aires. Argentina Resident of Neurology. Neurology Division. Hospital JM Ramos Mejía. Buenos Aires. Argentina AWARDS AND HONORS Scholarships Awards 1. Postgraduate Scholarship. CONICET, to develop the doctoral thesis Medicine Research Incentive Scholarship. Fundación Florencio Fiorini , Award of the Argentinean Neurological Society, Paper submitted New Genetic Factors for Multiple Sclerosis:

2 RESEARCH GRANTS TNFRSF1A R92Q Mutation and Auto-Inflammatory Syndrome TRAPS , Edmundo Fisher PosterAward, by the Argentine Psychiatric Association within the framework of the 15th World Congress of Psychiatry for the paper entitled Depression and suicide attempts in patients with temporal lobe epilepsy, candidates for epilepsy surgery , Award of the Argentinean Neurological Society. Paper submitted: Serotonin Reuptake Gene Genotyping and Response to Treatment in Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis. Molecular Prognosis? , First Award, 2nd Congress of the Argentinian League against Epilepsy. Paper submitted: Research into the association between the R271C polymorphism of the KCNJ10 gene and the development of temporal lobe epilepsy with hippocampal sclerosis , Ramos Mejia Award, Argentinean Neurological Society, Paper submitted "Association between Transcriptionally Deficient Alleles of Prodynorphin Gene and Development of Temporal Lobe Epilepsy " , First Award Experimental Research Category, Interdisciplinary Seminars, Hospital JM Ramos Mejía, Teaching and Research Committee. Hospital Ramos Mejia. Paper submitted "The G1465A Polymorphism of the GABBR1 Gene is a Risk Marker for development of Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis." , Magnum cum Laude, Medical Doctor, Buenos Aires University School of Medicine 1. CONICET ( ). Genetics of Malformations of Cortical Development. Director. 2. PICT-Probitec. Ministry of Science and Technology. ( ). Investigator. Coordinating group. 3. Fundacion Florencio Fiorini. Genetics of Malformations of Cortical Development. Principal Investigator Conicet. Pharmacogenetics of Epilepsy. Co-Investigator

3 PUBLICATIONS 5. University of Buenos Aires. UBACYT. Development of new methods for diagnosis and treatment of human epilepsy. Co- Investigator Kauffman MA (2012). Tres Preguntas y una Respuesta: Algoritmo Diagnóstico Molecular en Enfermedades Mitocondriales. Neurol Arg, en prensa. 2. Consalvo D, Kauffman MA, Oddo S, Rey R, Kochen S (2012). Alteraciones extrahipocámpicas en epilepsia temporal. Neurol Arg 4: Papayannis C, Consalvo D, Kauffman MA, Seifer G, Oddo S, D Alessio L, Saidon P, Kochen S (2012). Malformations of cortical development and epilepsy in adult patients. Seizure 21(5): Cordoba M, Consalvo D, Gonzalez Moron D, Kochen S, Kauffman MA (2012). SLC6A4 gene variants and temporal lobe epilepsy susceptibility: a metaanalysis. Mol Biol Rep. 39(12): Kauffman MA (2012). Algunas reflexiones sobre genomas e informacioń gene tica en Babel y Buenos Aires. Neurol Arg 4(1): Kauffman MA, Gonzalez-Morón D, Consalvo D, Westergaard G, Vazquez M, Mancini E, Taratuto AL, Rey RC, Kochen S (2012). Diagnosis of mitochondrial disorders applying massive pyrosequencing. Mol Biol Rep. 39(6): Princich JP, Consalvo D, Kauffman MA, Seifer G, Blenkmann A, Kochen S (2012). Contribution of diffusion tensor magnetic resonance imaging to the diagnosis of focal cortical dysplasias. Rev Neurol 54(8): Kauffman MA, Gonzalez-Morón D, Consalvo D, Kochen S (2012). Cerebrotendinous Xanthomatosis Revealed in Drug-Resistant Epilepsy Diagnostic Workup. Am J Med Sci. 343(4): Abaroa L, Garretto NS, Arakaki T, Kauffman M, Moron DG, Figueredo AM, Szlago M, Metman LV (2011). Myoclonus and angiokeratomas in adult galactosialidosis. Mov Disord. 26(4): Kauffman MA, Sterin-Prync A, Papouchado M, Gonzalez E, Vidal AJ, Grossberg SE, Chuppa S, Odoriz B, Vrech C, Diez RA, Ferro HH (2011). Immunogenicity of an interferon-beta1a product. Int J Immunopathol Pharmacol, 24(2): Kauffman MA, Gonzalez-Morón D, Garcea O, Villa AM (2011). TNFSFR1A R92Q mutation, autoinflammatory symptoms and multiple sclerosis in a cohort from Argentina. Mol Biol Rep. (en prensa) 12.Kauffman MA, Consalvo D, Gonzalez-Morón D, Pujol V, Kochen S (2010). ApoEε4 genotype and the age at onset of temporal lobe epilepsy: A casecontrol study and meta-analysis. Epilepsy Res, 90; Gonzalez Morón D,Kauffman M, Garcea O, Villa AM (2010). Nuevos factores genéticos en la esclerosis múltiple: mutación R92Q en el gen TNFRSF1A y el síndrome autoinflamatorio TRAPS. Neurología Argentina 2; Kauffman MA, Consalvo D, Gonzalez-Morón D, Pujol V, Solís P, Oddo S, Lomlomdjian C, Kochen S (2009). El alelo e4 de la apolipoproteína e modificaría el período silente del desarrollo de la epilepsia mesial temporal con esclerosis del hipocampo. Neurología Argentina 1; Kauffman MA, Yankilevich P, Barrero P, Bello R, Marangunich L, Vidal A, Criscuolo M, Diez RA, SterinPrync A (2009). Whole genome analysis of the action of interferon-beta. Int J ClinPharmacolTher, 47; Kauffman MA, Villa AM (2009). Comment to Tumour necrosis factor alpha gene -376 polymorphism in Hungarian patients with primary progressive multiple sclerosis. J Neuroimmunol, 212; 151

4 17.Kauffman MA, Consalvo D, Gonzalez-Morón D, Aguirre F, D'Alessio L, Kochen S (2009). Serotonin transporter gene variation and refractory mesial temporal epilepsy with hippocampal sclerosis. Epilepsy Res, 85; Kauffman MA, Pereira-de-Silva N, Consalvo D, Kochen S (2009). ApoE epsilon4 is not associated with posictal confusion in patients with mesial temporal lobe epilepsy with hippocampal sclerosis. Epilepsy Res, 85; Lahoz M, Kauffman M, Carfagnini J, Vidal A, Papouchado M, Sterin-Prync A, Diez R, Nagle C (2009). Pharmacokinetics and pharmacodynamics of interferon beta 1a in Cebusapella. J MedPrimatol, 38; D'Alessio L, Giagante B, Papayannis C, Oddo S, Silva W, Solís P, Donnoli V, Kauffman M, Consalvo D, Zieher LM, Kochen S (2009). Psychotic disorders in Argentine patients with refractory temporal lobe epilepsy: a case-control study. EpilepsyBehav, 14; Melcon C, Consalvo D, Centurión E, Papayannis C, Kauffman M, Kochen S (2009). Heterotopía en banda o doble corteza. Reporte de caso. Neurología Argentina, 1; Arberas C, Aguirre F, Berardo A, GonzalezMoron D, Kauffman M, Maiola R, Melamud L, Pirra L, Seifer G (2008). Guías de Neurogenética de la Sociedad Neurológica Argentina. RevNeurolArg, 33; Kauffman M, Consalvo D, Gonzalez Morón D, Aguirre F, D Alessio L, Kochen S (2008). Genotipificación del gen del recaptador de serotonina y respuesta al tratamiento en la epilepsia mesial temporal con esclerosis del hipocampo pronóstico molecular?.revneurolarg, 33; Papayannis C, Consalvo D, Seifer G, Kauffman M, Silva W, Kochen S (2008). Clinical spectrum and difficulties in management of hypothalamic hamartoma in a developing country. ActaNeurol Scand,118: Di Girolamo G, Kauffman M, Gonzalez E, Papouchado M, Ramírez A, Keller G, Carbonetto C, Dabsys S, Vidal A, Sterin-Prync A, Diez R (2008). Bioequivalence of Two Subcutaneous Pharmaceutical Products of Interferon Beta 1a. Drug Research, 58: Kauffman M, Levy E, Consalvo D, Mordoh J, Kochen S (2008). GABABR1 (G1465A) gene variation and temporal lobe epilepsy controversy: new evidence. Seizure, 17; Kauffman M, Consalvo D, Gonzalez Morón D, Kochen S (2008). Transcriptionally less active prodynorphin promoter alleles are associated with temporal lobe epilepsy: a case-control study and meta-analysis. Dis Markers, 24; Kauffman M, Gonzalez Morón D, Consalvo D, Bello R, Kochen S (2008). Association study between interleukin 1β gene and epileptic disorders: a HuGe review and meta-analysis. Genetics in Medicine 10, Prync AE, Yankilevich P, Barrero PR, Bello R, Marangunich L, Vidal A, Kauffman M, Diez RA (2008). Two recombinant human interferon-beta 1a pharmaceutical preparations produce a similar transcriptional response determined using whole genome microarrays analysis. Int J ClinPharmacolTher 46, Kauffman M, Moron DG, Bruno V (2007). How accurate are bedside hearing test? Neurology 69 (13), Kauffman M, Gonzalez Morón D, Garcea O, Sica R, Villa AM (2007) Is tumour necrosis factor -376A promoter polymorphism associated with susceptibility to multiple sclerosis? Medicina (B Aires) 67 (5), Kauffman M, Consalvo D, Kochen S. (2007) Genética de la Epilepsia del Lóbulo Temporal. Psicofarmacología, 7, Kauffman M, Consalvo D, GonzalezMoron D, Kochen S (2007) Asociación entre Alelos Transcripcionalmente Deficientes del gen de la Prodinorfina y el

5 Desarrollo de Epilepsia del Lóbulo Temporal, Revista Neurológica Argentina, 32 (1), Kauffman M, Yankilevich P, Barrero P, SterynPrync A, Diez RA (2007) Caracterización de la expresión génica inducida por interferón beta en leucocitos de pacientes con Esclerosis Múltiple utilizando microarrays de genoma completo. Un Analisis Preliminar., Revista Neurológica Argentina, 32(2), Kauffman M, Consalvo D, Levy E, Papayannis C, Mordoh J, Kochen S (2006) El Polimorfismo G1465A del Gen GABBR1 es un Marcador de Riesgo para el desarrollo de Epilepsia Mesial Temporal con Esclerosis del Hipocampo., Revista Neurológica Argentina, 31(1)25-31