At the IGTP TODAY
Hereditary Cancer
CARE, the Translational Program in Cancer Research is the first transversal program promoted by the Germans Trias i Pujol Research Institute (IGTP), and it aims to become a bridge for researchers in the field of cancer who want to bring basic and clinical research together, so that the knowledge and the tools generated in the laboratory can benefit the patient.
The Hereditary Cancer Group have published a study in Cell Reports in which they describe the generation of a model system based on induced pluripotent stem cells (iPSCs) that is able to generate human neurofibromas in mice. These tumours arise in people with the genetic disease Neurofibromatosis Type 1, a prevalent condition occurring in one in every 3,000 people. To date, a robust method for generating human neurofibromas in mice has been lacking, and the model developed opens up the possibility of testing new treatments for these tumours.
The Germans Trias i Pujol Research Institute (IGTP) has received a total of 305,680 euros for three projects on rare diseases in which it participates or coordinates. In total the three projects have received financing of more than a million euros, to be divided between the several institutions participating. This edition of the fundraising marathon will fund a total of 41 biomedical research projects of excellence on rare diseases. The projects aim to provide better diagnosis at birth and provide more efficient and safer treatments to improve quality of life and extend the lifespans of people affected.
This years' edition of the Workshop on Rare Diseases took place at the IGTP this Thursday with the title 'A Multidisciplinary Approach to Rare Diseases' timed for the International Day for Rare Diseases, celebrated this year on 29 February. The key to improving the management of this type of disease is dialogue between different specialty areas and a much more global approach. This must be coupled with the inclusion of research staff when deciding on the lines of research to be advanced.
Last Friday the first update meeting at national level to take a global view of the healthcare situation and present the latest research data for Neurofibromatosis type 2 (NF2) took place at the IGTP. This pioneering event was organized by the members of the National Reference Centre in genetic neuro-cutaneous syndromes (Facomatosis), (CSUR) on the Can Ruti Campus and also included patients and families affected by the disease.
This week the IGTP and other centres hosted the “Can Ruti Open Door Session” within Science Week in Badalona; the Science Week is a national event organized by the Spanish Foundation for Science and Technology (FECYT). This year nearly 200 high school students from various educational centres have visited the research facilities at nine different organizations on the Can Ruti Campus and learned about studies taking place there.
Yesterday evening the ceremony to present awards to the 43 projects that will receive funding for cancer research from the 2018 edition of the La Marató de TV3 and Catalunya Radio was held at the Academy of Medical Sciences. Three of the projects will be carried out under the leadership of Germans Trias professionals.
In 2017 the team designed and tested a gene panel, in collaboration with the ICO, to standardize and simplify genetic testing for hereditary cancer. In the current work the group has validated and extended the use of this panel in the routine genetic testing for different RASopathies. These are other genetic diseases caused by mutations in genes of the Ras/MAPK pathway for which patients exhibit an overlapping clinical presentation with NF1, especially in children.
Can Ruti has been awarded a research project by the Spanish Federation for Rare Diseases (FEDER) Foundation in their fourth call for research projects. The winning project, led by Dr Ignacio Blanco and Dr Elisabeth Castellanos, from the Germans Trias I Pujol Hospital and Institute respectively, is one of five financed by the foundation this year. The research will focus personalized attention for Neurofibromatosis type 2 (NF2) patients to optimize evaluation of their quality of life and refine their classification during diagnosis.
The IGTP and the Germans Trias Hospital face the spotlight for rare diseases again. This year our professionals are joining World Rare Disease Day on the last day of February to highlight these diseases and shine a light on the research activities in the field on campus.
