Clínic Barcelona. Hospital Universitari

Josep Oriola Ambròs

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Senior Consultant

Hospital Clínic – Biomedical Diagnostic CenterBiochemistry and Molecular Genetics

  • Genetic Diagnosis of Multiple Endocrine Neoplasia, neuroendocrine tumors.
  • Genetic Diagnosis of Congenital Adrenal Hyperplasia. Classic and non-Classic Forms.
  • Genetic Diagnosis of Monogenic Diabetes. MODY and neonatal diabetes.
  • Genetic Diagnosis of hereditary breast/ovarian cancer due to alterations in the BRCA1 and BRCA2 genes.
  • Genetic diagnosis of androgen resistance, resistance to thyroid hormone, alterations in calcium receptor and Central & nephrogenic diabetes insipidus.
  • Study of Genotype-Phenotype Correlation in Multiple Endocrine Neoplasia. Study of new variants and new genes.
  • Study of 21-hydroxylase deficiency. New mutations and their correlation with phenotype. Study of variants in the promoter region. Study of the C4-CYP21 complex.
  • Study of Genotype-phenotype correlation in Monogenic Diabetes. Spectrum of mutations.
  • In the context of The European Space for Higher Education(ESHE), Seminars, Clinical case discussions and Problem-based learning (PBLs)should be enhanced.

Other charges

  • member of the hereditary breast cancer committee

  • Associate Professor Department of Biomedicine. Faculty of Medicine and Health Sciences. University of Barcelona.

Recent articles

Academic Qualifications

  • Associate Professor (2008)
  • Clinical Biochemistry specialist (2005)
  • Doctor in Biological Sciences (2002)

Biomedical Diagnostic Center (CDB)

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