The meeting, which will be in the auditorium Axa in Illa Diagonal, will bring more than 150 national and international experts, about 30 representatives of associations of patients and 60 patients. We will discuss the latest advances in the diagnosis, treatment and understanding of the molecular basis of disease. Among others, the results of a recent study published in Nature on new genes involved in the pathology will be presented.

Also, it will take place the National Working Conference on Neurofibromatosis, during which they reach a consensus on clinical guidelines for the management of both Neurofibromatosis Type 1 and Neurofibromatosis Type 2.

The Congress is driven by the Catalan Institute of Oncology, the Research Institute Foundation in Health Sciences Germans Trias i Pujol, Institute of Biomedical Research of Bellvitge and the Institute of Predictive and Personalized Medicine of Cancer. He has also received the support of the City Council and the Advisory Council on Patient Health Department of the Generalitat of Catalonia.

the neurofibromatosis

The neurofibromatosis are a set of minority hereditary disorders characterized by the development of benign tumors of nerve fibers and various parts of the body. These tumors can cause skin, brain and nerve damage that significantly reduce the quality of life of patients. Also, there is the possibility that become malignant tumors and cancer occurs.

The neurofibromatosis are caused by alterations in specific genes. Of the three forms of neurofibromatosis (type 1, type 2 and schwannomatosis) that exist, the most common is neurofibromatosis type 1, which can affect 1 in 3,000 individuals. The NF2, in turn, affects 1 in every 33,000 people -40.000.

The three forms exhibit significant variability in the demonstrations, which makes each patient unique. Currently, you can know whether or not a patient will develop the disease, since the molecular basis is known but can not determine which events, nor strength, nor exactly when it will developed.

The research aims to expand the knowledge of the molecular bases of each of the clinical manifestations and to develop therapeutic strategies and monitoring products.

Challenges in neurofibromatosis approaches

The challenges for health professionals posed by these rare diseases are diverse: