Researchers from the group led by UAB Chair Professor Dr Jordi Surrallés at the Hospital de la Santa Creu i Sant Pau, Barcelona, the Universitat Autònoma de Barcelona and the CIBER of Rare Diseases (CIBERER) participated in a study which has led to the identification of a new gene involved in Fanconi anaemia, a rare genetic disease.
The authors of the study, published in the prestigious The Journal of Clinical Investigation, discovered specific mutations in the RFWD3 gene, related to DNA repair, which are involved in the development of this disorder. For this reason, researchers chose to use next-generation massive sequencing technology in the study.
Fanconi anaemia is a hereditary disease caused by mutations in some of the genes related to DNA repair, a process which is essential for the maintenance of stem cells and the prevention of cancer. People affected by this serious disorder suffer from bone marrow failure, several congenital defects and have more chances of developing solid tumours and haematologic problems.
The authors of the research detected mutations in the RFWD3 gene in a child with Fanconi anaemia. They also confirmed the relation between the mutations and the disorder with functional studies in cell and animal models.
The research was coordinated by Dr Detlev Schindler of the University of Würzburg, Germany. Participating were other researchers from the same university and from the University of Kyoto, as well as the group led by Dr Surrallés, Chair Professor in Genetics at the Universitat Autònoma de Barcelona, head of the CIBERER research group and current director of the Genetics Unit at the Hospital de la Santa Creu i Sant Pau.
Until now, there was knowledge of 21 genes involved in Fanconi anaemia. Three years ago, the research group coordinated by Dr Surrallés had already directed a study which gave way to the discovery of another of the genes causing this disorder, the FANCQ. The study was published in the American Journal of Human Genetics.
"The discovery of new genes is essential not only for genetic diagnosis and advice, but also for the development of new therapies. A good example is gene therapies in which we are already working on the clinical trials. The RFWD3 protein is of the few deficient proteins in patients with Fanconi anaemia in which we can see a clear enzymatic activity (ubiquitin ligase), which opens the door to massive drug screenings. In this sense, my group has already worked on several screenings of thousands of therapeutic molecules with the aim of repositioning a drug for this disease", Dr Surrallés explains.
The Centre for Biomedical Research Network (CIBER) is a consortium hanging from the Institute of Health Carlos III (Ministry for Economy, Industry and Competitiveness) and co-funded by FEDER. The CIBER of Rare Diseases (CIBERER) is a leading centre in Spain for the research into rare diseases. Its main objective is to coordinate and foster basic, clinical and epidemiological research, as well as to ensure that the research conducted in laboratories reaches patients and to provide scientific answers to the questions which may arise during interactions between patients and doctors. The CIBERER team is made up of over 700 professionals and includes 62 research groups. It also includes 20 affiliated clinical groups.
CIBERER began its New Genes in Rare Diseases Programme in 2011. Since then, it has been consolidated as one of its strategic lines. Through collaboration projects dozens of new genes have been described by the centre's various groups, making an important contribution to the identification of the genetics behind many rare diseases.
Hospital de la Santa Creu i Sant Pau
The Hospital de la Santa Creu i Sant Pau was founded over six centuries ago and is a leading centre in health services for the city of Barcelona. It is also a top centre in Catalonia in patient assistance, teaching and research.
The hospital focuses on people and is open to the surrounding healthcare sectors and society. At the same time it is also a leader in specialised tertiary and high complexity care, both locally and internationally.