Reproductive BioMedicine Online
Volume 21, Issue 5 , Pages 658-662, November 2010

Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema

  • Rosa Bautista-Llácer

      Affiliations

    • Molecular-PGD Laboratory, Sistemas Genómicos S.L. Paterna, Valencia, Spain
    • Corresponding Author InformationCorresponding author.
    • ,
  • Trinitat M. Alberola

      Affiliations

    • Molecular-PGD Laboratory, Sistemas Genómicos S.L. Paterna, Valencia, Spain
    • ,
  • Xavier Vendrell

      Affiliations

    • Reproductive Genetics Unit, Sistemas Genómicos S.L. Paterna, Valencia, Spain
    • ,
  • Esther Fernández

      Affiliations

    • IVF Laboratory Quirón-Madrid, Madrid, Spain
    • Present address: PGD Laboratory Geniality, Diagnóstico Genético, Madrid, Spain.
    • ,
  • Manuel Pérez-Alonso

      Affiliations

    • Sistemas Genómicos S.L. Paterna, Valencia, Spain
    • Present address: Department of Genetics. Universitat de València, Burjassot, Valencia, Spain.

Received 23 December 2009; received in revised form 20 May 2010; accepted 20 May 2010. published online 02 August 2010.

Declaration: The authors report no financial or commercial conflicts of interest.

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 Rosa Bautista-Llácer has been working as a molecular geneticist for over 8 years. In 2001 she graduated in Biology at the University of Valencia. She specialized on molecular biology techniques at the genetics department in Cambridge University, UK. In 2006 she joined the biotechnological company Sistemas Genómicos in Valencia, and works in the molecular preimplantation genetic diagnosis laboratory of the Reproductive Genetics Unit. She has set up several diagnostic protocols for rare monogenic disorders, most for the first time in Spain. Nowadays, her team is developing applications for an increasing list of single-gene disorders and numerical and structural chromosomal abnormalities.

PII: S1472-6483(10)00394-9

doi:10.1016/j.rbmo.2010.05.016

Reproductive BioMedicine Online
Volume 21, Issue 5 , Pages 658-662, November 2010

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