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International consortium of researchers genetically characterise Spanish Fanconi anaemia patients

January 14, 2016

Dr Jordi Surrall?s highlights the importance of the study carried out given that results will have significant applications in the diagnosis, prognosis and evolution of this rare disease. For example, several of the mutations described in the article served to carry out prenatal and even pre-implant diagnoses follow by the selection of healthy and compatible embryos, with the aim of using blood from the umbilical cord for bone marrow transplants to cure siblings.

Participating in the research were eleven hospitals in Spain and Portugal, two of which are UAB-affiliated hospitals (Sant Pau Hospital and Vall d'Hebron University Hospital) and several national and international research and university centres: CIEMAT (Centre for Energetic, Environmental and Technological Research), CNIO (National Cancer Research Centre), CIBERER, University of Wurzburg, The Rockefeller University, New York, and VU University Medical Center, Amsterdam.

Through its Genome Instability and DNA Repair Group, directed by Dr Jordi Surrall?s, UAB has become a worldwide leader in research carried out into Fanconi anaemia. In recent years it has contributed greatly to the further understanding of genetic mechanisms involved in the disease, to the improvement of diagnoses and advances in new therapies, both independently and with the collaboration of institutions such as CIEMAT, CIBERER and CRMB (Centre of Regenerative Medicine in Barcelona).

Source Universitat Aut??noma de Barcelona (UAB)