1. Name First name: Jaume Last name: Colomer Oferil
2. Academic title Full title or abbreviation: MD,
3. Present position with full work address Position: Head of Neuromuscular Pathology Unit Street address or postal address: Passeig Sant Joan de Déu, 2, 08950 Esplugues (Bracelona).Spain Name of institution or organisation: Hospital Sant Joan de Déu Start date: 03-11-78 Country: Spain
4. Main university degree(s) Name of university/institute: Barcelona University Degree awarded: Notable City & country: BARCELONA Year of graduation: 15-11.1972 Name of university/institute: (PHD) Barcelona Degree awarded: Excel-lent “Cum Laude”10/10/2004 City & country: Barcelona (Spain) Year of graduation: 10/10/2004 (PHD) Name of university/institute: Paediatrician (University of Barcelona) City & country: Neurologist (University of Barcelona)
5. Postgraduate education/specialisation/training Name of university/institute: Hospital Sant Joan de Déu City & country: Barcelona (Spain)
6. Registration number/medical license number (where applicable) Number: Barcelona Medical College Nº 7421
7. Previous appointments
8. Clinical research experience (append publication list if available):
Colomer J., Iturriaga C., Bestué M.,. Artuch R, Briones P, Montoya J, MA. Vilaseca, Pineda M Caracterización de la neuropatía en las enfermedades mitocondriales Revista de Neurología 2.000;30(12):1117-22.
Colomer J, Iturriaga C, Bestue M, Artuch R, Briones P, Montoya J, Vilaseca MA, Pineda. Aspects of neuropathy in mitochondrial diseases. Rev Neurol.2000 Jun 16-30;30(12):1117-21.
Colomer J, Iturriaga C, Kalaydjieva L, Angelicheva D, King R,. Thomas P.K. Hereditary motor and sensory neuropathy of Lom. Clinical, pathological and genetic findings in a Spanish family”. Neuromuscular Disorders 2.000; 00:1-5.
Chandler D, ACngelicheva D, Heather L, Gooding R, Gresham D, Yanakiev P de Jonge R, Baas F, Dye D, Karagyozov L, Savov A, Blechmidt K, Keats B, Thomas PK, King RH, Starr A, Nikolava A, Colomer J, Ishpekova B, Tournev I, Urtizberea JA; Merlini L, Butinar D, Chabrol B, Voit T, Baethmann M, Nedkova V, Corches A, Kalaydjieva L. Hereditary motor and sensory neuropathy.Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries. Neuromuscul Disord. 2000 Dec; 10(8): 584-91.
Coelho-Miranda L, Playan A, Artuch, Vilaseca MA, Colomer J, Briones, P.Coll-Canti J, Conill J, Sans A, Lopez de Munain A, Solano A, Alcine MJ, Montoya J, Pineda M. Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accident (MELAS) in pediatric age with the A3243G mutation in the tRNALeu (UUR) gen of mitochondrial nDNA.Rev Neurol.2000 Nov 2 1-15;31(9):804-11.
Colomer, C.Iturriaga J, Kalaydjieva L, Rogers T, Hantke J, King R.H.M, Tournev I, Thomas P K. Hereditary motor and sensory neuropathy Lom. Kalaydjieva L, King R, Gresham D, Molnar M, Tourvev I, Andelicheva D, Butinar D, Colomer J, Corches A, Lupu C, merlini L, Zanetti M, Bergonzoni C, Thomas P.K. HMSN-Russe in two Spanish patients: distinctive features of the disease and current genetic findings. Acta Myologica 2.001:XX;192-201.
Briones P, Vilaseca MA, Garcia-Silva MT. Pineda M, ColomerJ, Ferrer I, Artigas J, Jaeken J, Chabas A. Congenital disorders of glycosilation (CDG) may be underdiagnosed when mimiking mitichondrial disease. Europ J Paediatr Neurol. 2001;5(3):127-31.
Thomas PK, Kalaydjieva L, Youl B, Rogers A, Angelicheva D, King RH, Guergueltcheva V, Colomer J, Lupu C, Corches A, Popa G, Mwerlini I, Shmarov A, Muddle JR, Nouallah M, Tournev I. Hereditary motor and sensory neuropathyrusse: new autosomal recessive neuropathy in Balkan Gypsies. Ann Neurol.2001 Oct:50(4):425-7.
Colomer J, Iturriaga C, Bonne G, Schwartz K, Manilal S, Morris GE, Puche M, Fernández-Alvarez E. Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis”.. Neuromuscul Disord 2002;12:19-25.
Sugie K, Yamamoto A, Murayama K, Colomer J, Iturriaga C.Clinicopathological features of genetically confirmed Danon Disease. Neurology Neurology 2002;58:1773-1778.
Pineda M, Solano A, Artuch R, Andreu A.L, Playan A,Vilaeca Mª A. Colome J,Briones P, Casdemont J and Montoya J. Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DAN. Pediatyrics Research, 2004 Vol.56, Nº 1, 59-59.
Gooding R Colomer J, King R, Angelicheva D, Marns L, Parman Y, Bertranpetit J, Kalaidjieva L. A n other founder mutation, p.Arg1109 in the CMT4C genes is a common cause of peripheral neuropathy in the Gypsy population. Journal Medical Genetics, 2005;42 e69.
Colomer J, Müller JS, Vernet A, Nascimiento A, Pons M, Gonzalez V, Abicht A Lochmüller H. Long term improvement of slow-channel syndrome with fluoxetine. Neuromuscular Disorders.2006;16:329-333.
Colomer J, Gooding R, Angelicheva D, King R.H.M, Guillén-Navarro E, Parman Y, Nascimento A, Conill J,Kalaidjieva L. Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.Neuromuscular Disorders 2006;16:449-453
Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain. 2007 Jun;130(Pt 6):1497-506.
Violeta Mihaylova, juliana S.Müller, Juan J Vilchez, Mustafa A, Salih, Mohammad M. Kabira, Adele D’Amico, Enrico Bertini, Joachim Wölfle, Felix Schreiner, Gerhard Kurlemann, Vedrena Milic Rasic, Dana Siskova, Jaume Colomer, Agnes Herczfalvi, KatarinaFabriciova, Berhard Weschke, Rosana Scola, Friederike Hoellen, Ulrike Schara, A.Clinical and Hanns Lochmüller. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain(2008)Page 1 0f 13.doi:10.1093/brain/awm325. Page 4 of 4
Colomer J, Gooding R, Angelicheva D, King R.H.M, Guillén-Navarro E, Parman Y, Nascimento A, Conill J,Kalaidjieva L. Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.Neuromuscular Disorders 2006;16:449-453
Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain. 2007 Jun;130(Pt 6):1497-506. Epub 2007 Apr 17
Violeta Mihaylova, juliana S.Müller, Juan J Vilchez, Mustafa A, Salih, Mohammad M. Kabira, Adele D’Amico, Enrico Bertini, Joachim Wölfle, Felix Schreiner, Gerhard Kurlemann, Vedrena Milic Rasic, Dana Siskova, Jaume Colomer, Agnes Herczfalvi, KatarinaFabriciova, Berhard Weschke, Rosana Scola, Friederike Hoellen, Ulrike Schara, A.Clinical and Hanns Lochmüller. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain(2008)Page 1 0f 13.doi:10.1093/brain/awm325.
Cecilia Jimenez-Mallebrera, Andres Nascimento, Victoria Cusí, Joan Corbera, Marie Odile Rolland, Roseline Froissart, Montse Olive, Isidro Ferrer, Jaume Colomer Oferil. Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period. Histopathology. 54:765-768. 2009
Jan Senderek, Juliane S Müller, Marina Dusl, Tim M Strom, Velina Guergueltcheva Irmgard Diepolder,….Colomer J et al. Exoxamine Biosynthetic Pathway Mutations Cuase Neuromuscular Transmission Defect .Am J Hum Gen, 2011 88, 162- 172.
Guerguelcheva V, Müller JS, Dusl M, Senderek J, Olfords A, Limbergh C, Maxwell S, Colomer J, Jimenez-Mallebrera C, Nascimento A et al. Congenital myathenic syndrome with tubular agregates caused by GFPT1 mutation. Journal of Neurology (accepted).
Chaouch A, Müller J, Guergeltcheva V, Dusl M Schara U, Racocevic-Stojanovic C, Scola LC, Colomer J, et al. A retrospective clinical study of the treatment of slow –channel congenital myasthenic syndrome. J.Neurol. DOI 10.1007/s00415-6204-9
GCP training
9. Other activities pertinent to professional qualification
Professional Member: World Muscle Society
Collaboration in scientific research projects.
1 «-Contribución al estudio de las Distrofias Musculares de Duchenne/Becker» Entidad financiadora FIS 91/0590. Instituto Carlos III.Madrid. Investigador principal : Dra. Pia Gallano. Unidad de Genética .Hospital de Sant Pau.Barcelona.
2 – «Análisis Clínico Genético de las Distrofias de Cinturas en España». Entidad finnaciadora FIS 98-0040-01.Instituto Carlos III.Madrid Investigador Principal: Dra. Pia Gallano. Unidad de Gernética.Hospital de Sant Pau.Barcelona..
3 – «Estudio de la expresión fenotípica multisistémica y su relación con el fenotipo en las Enfermedades del metabolismo Energético Mitocondrial en la edad pediátrica». Entidad financiadora FIS 98/0049-01.Instituto Carlos III. Madrid. Duración 1998 a 2000. Investigador principal Dra. Mercedes Pineda. Hospital Sant Joan de Déu. Barcelona.
4 – «Estudio de las proteínas que intervienen en la patogénesis de las Distrofias Musculares en la infancia y adolescencia. Correlaciones clínicas, inmuno histoquímicas, bioquímicas y genéticas» Entidad financiadora. Fundació la Marató de TV3. Duración 1998-2001. Investigador principal: Dr. Emilio Fernández Álvarez.
5 – «Nodo 4 de la Red de enfermedades metabólicas hereditarias . Biología Clínica y terapéutica de las ataxias Cerebelosas. Neurodegeneración y ataxias. (G03/056). Entidad financiera FIS. Investigador principal Magdalena Ugarte Pérez.
6. Participación en “Estudio del RNA mensajero del gen de la distrofia muscular de Duchenne (DMD): Interferencia del mecanismo de degradación de mRNA mediada por mutaciones sin sentido en la terapia de supresión de codones de terminación prematuros”, P1080347. Investigadora principam Dr.a Pia Gallano. Servei de Genètica .Hospital de Sant Pau
7. 2008. Participación en el ensayo terapèutico » Estudio de la fase 2b para determinar la eficacia y la seguridad de PTC124 en sujetos con distrofia muscular de Duchenne y Becker mediada por una mutación sin sentido concódigo de protocolo PTC124-GD-007-DMD
8. 2010-hasta la fecha: Exon skipping in Duchenne Muscular Dystrophy to correct the reading frame of the DMD gene message. A phase II, double blind, exploratory, parallel group, placebo-controlled clinical study to assess two dosing regimes of GSK2402968 for efficacy, safety, tolerability and pharmacokinetics in ambulant subjects with Duchenne Muscular Dystrophy. Glaxo Smithkline.
9. Enero 2011-2014. Título: Nuevas perspectivas sobre las distrofias musculares: papel del colágeno VI, tejido adiposo intramuscular y metabolismo intermediario. Implicaciones para el diagnóstico y tratamiento. IP: Cecilia Jiménez Mallebrera. Ref: PI10/00177. Ministerio de Ciencia e Innovación. Proyecto de Investigación en Salud.
10. Abril 2010- Marzo 2013. Application of global gene expression analysis and functional genomics to the study of the physiopathology, treatment and diagnosis of paediatric myopathies. IP: Cecilia Jimenez Malaria. Referencia: CP09/00011. Organismo: Ministerio de Ciencia e Innovación, Instituto de Salud Carlos III, Contrato Miguel-Servet.
