Clínic Barcelona. Hospital Universitari

Celia Badenas Orquin

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Head of Section

Hospital Clínic – Biomedical Diagnostic CenterBiochemistry and Molecular Genetics

  • Molecular diagnosis of hereditary disease: Wilson disease, phenylketonuria, cystic fibrosis, autosomal dominant and autosomal recessive polycystic kidney diseases, nephronophthisis
  • Molecular diagnosis of neurological inherited diseases: Duchenne/Becker muscular dystrophy, Charcot-Marie-Tooth 1A and HNPP
  • Molecular diagnosis of skin inherited diseases: melanoma susceptibility, porphyria (AIP, PCT, VP, CEP, PPE, CP).Xeroderma Pigmentosum genes (XPA, XPB, XPC, XPD, XPE, XPF, POLH).
  • Prenatal molecular diagnosis of inherited diseases.
  • Prenatal molecular diagnosis by QF-PCR (aneuploidy testing)
  • Melanoma genetic susceptibility: major susceptibility genes (CDKN2A, CDK4, POT1, BAP1), modifyer genes (MC1R, MITF). Somatic mutations (BRAF, NRAS, CKIT).
  • Porphyria implicated genes
  • Xeroderma Pigmentosum
  • Masters in molecular diagnosis and genetic counselling
  • Prenatal molecular diagnosis

Other charges

  • Key user Servolab

  • Assessor for the Wilson Disease Scheme (EMQN)

  • EMQN Board Member (Spanish representative)

Recent articles

  • Assessment of QF-PCR as the First Approach in Prenatal Diagnosis
    Badenas C, Rodríguez-Revenga L, Morales C, Mediano C, Plaja A, Pérez-Iribarne MM, Soler A, Clusellas N, Borrell A, Sánchez MA, Miró E, Sánchez A, Milà M, Jiménez W.
    J Mol Diagn. 2010;12:828-834
  • Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients
    Muñoz-Santos C, Guilabert A, Moreno N, To-Figueras J, Badenas C, Darwich E, Herrero C.
    Medicine (Baltimore). 2010;89:69-74
  • Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study
    Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P; French Familial Melanoma Study Group, Aubin F, Bachollet B, Becuwe C, Berthet P, Bignon YJ, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d'Incan M, Dugast C, Faivre L, Vincent-Fétita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Matéus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B..
    Nature. 2011;480:94-98
  • Genetic counseling in melanoma.
    Badenas C, Aguilera P, Puig-Butillé JA, Carrera C, Malvehy J, Puig S..
    Dermatol Ther.. 2012;25:397-402
  • Genetic alterations in RAS-regulated pathway in acral lentiginous melanoma.
    Puig-Butillé JA, Badenas C, Ogbah Z, Carrera C, Aguilera P, Malvehy J, Puig S..
    Exp Dermatol.. 2013;22:148-150

Academic Qualifications

  • PhD in Biology (1995)
  • BsC in Biology (1990)

Biomedical Diagnostic Center (CDB)

Villarroel, 170 · 08036 Barcelona
Tel: +34 93 227 54 64 · Fax: +34 93 227 98 75 · · www.hospitalclinic.org