Short Curriculum of Research

Dr Laura Audi

Affiliation

Hospital Vall d'Hebron
Vall d’Hebron Research Institute (VHIR) & Centre for Biomedical Research Network on Rare Diseases (CIBERER)
Contact: laura.audi(at)vhir.org

Education/ Training

1971MD, University of Barcelona
1972-1975Fellowship in paediatric endocrinology and hormonal research (INSERM-Hôpital Debrousse, Lyon, France)
1976PhD, University of Barcelona

Research Experience/ Academic Appointments

1976-1977Consultant in paediatrics (Vall d’Hebron Paediatric Hospital, Barcelona, Spain)
1978-1983Clinical chemist (Vall d’Hebron Paediatric Hospital, Barcelona, Spain)
1983-1991Chief of the Hormonal Laboratory (Clinical Biochemistry Service, Hospital Germans Trias-Pujol, Badalona, Spain)
1991-2011Investigator (Pediatric Endocrinology Research Unit, Vall d’Hebron Research Institute, Hospital Vall d’Hebron, Barcelona, Spain)
2011-presentSenior Investigator of the Pediatric Endocrinology Research Unit at the Vall d’Hebron Research Institute (VHIR) in the Hospital Vall d’Hebron, Barcelona (Spain)

Publications

5 main publications with relevance to DSDnet (last 5 years)

  • Akcay T, Fernandez-Cancio M, Turan S, Güran T, Audi L, Bereket A. AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity. Andrology. 2014 Apr 16. doi: 10.1111/j.2047-2927.2014.00215.x.
  • Cox K, Bryce J, Jiang J, Rodie M, Sinnott R, Alkhawari M, Arlt W, Audi L, Balsamo A, Bertelloni S, Cools M, Darendeliler F, Drop S, Ellaithi M, Guran T, Hiort O, Holterhus PM, Hughes I, Krone N, Lisa L, Morel Y, Soder O, Wieacker P, Ahmed SF. Novel associations in disorders of sex development: findings from the I-DSD Registry. J Clin Endocrinol Metab. 2014 Feb;99(2):E348-55.
  • Camats N, Pandey AV, Fernández-Cancio M, Andaluz P, Janner M, Torán N, Moreno  F, Bereket A, Akcay T, García-García E, Muñoz MT, Gracia R, Nistal M, Castaño L,  Mullis PE, Carrascosa A, Audí L, Flück CE. Ten novel mutations in the NR5A1 gene  cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. J Clin Endocrinol Metab. 2012 Jul;97(7):E1294-306.
  • Fernández-Cancio M, Audí L, Andaluz P, Torán N, Piró C, Albisu M, Gussinyé M,  Yeste D, Clemente M, Martínez-Mora J, Blanco A, Granada ML, Marco M, Ferragut J,  López-Siguero JP, Beneyto M, Carles C, Carrascosa A. SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation. Int J Androl. 2011 Dec;34(6 Pt 2):e526-35.
  • Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, Vilaró E, Vicens-Calvet E, Gussinyé M, Albisu MA, Yeste D, Clemente M, Hernández de la Calle I, Del Campo M, Vendrell T, Blanco A, Martínez-Mora J, Granada ML, Salinas  I, Forn J, Calaf J, Angerri O, Martínez-Sopena MJ, Del Valle J, García E, Gracia-Bouthelier R, Lapunzina P, Mayayo E, Labarta JI, Lledó G, Sánchez Del Pozo J, Arroyo J, Pérez-Aytes A, Beneyto M, Segura A, Borrás V, Gabau E, Caimarí M, Rodríguez A, Martínez-Aedo MJ, Carrera M, Castaño L, Andrade M, Bermúdez de la Vega JA; Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA). Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. J Clin Endocrinol Metab. 2010 Apr;95(4):1876-88.