A consortium of thirty-two researchers worldwide, led by Dr Jordi Surralls, professor of the Department of Genetics and Microbiology at Universitat Autnoma de Barcelona (UAB) and member of the Centre for Biomedical Network Research on Rare Diseases (CIBERER), genetically and clinically characterised almost all Spanish patients suffering from Franconi anaemia, a rare disease affecting one in every 500,000 persons and which is characterised by severe anaemia in children, congenital malformations and a high predisposition to cancer.
A hundred people in Spain suffer from Fanconi anaemia; 80% of these present mutations in the FANCA gene. In the research, 90% of these patients were studied, as well as patients in Brazil, Mexico, Argentina, Peru, United States, United Kingdom, Portugal, Germany, Pakistan and Nigeria.
The research includes characterisation of over 130 pathogenic mutations in the FANCA gene, present in two of every three cases in almost all of the countries analysed, as well as the study of the origin and world distribution of some of the most frequent mutations. The mutation predominating in Spain and in the rest of countries is an ancestral mutation of Indo-European origin which spread throughout Europe thousands of years ago and which reached America across the Atlantic, producing founder effects in areas such as La Palma, with a high prevalence o
|Contact: Maria Jesus Delgado|
Universitat Autonoma de Barcelona