New financing from the Catalan NF2 Patients Association for Research into personalized medicine for Neurofibromatosis Type 2

- Campus Can Ruti, Research

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.

This project is a continuation of the work being carried out a the National Reference Centre in genetic neurocutaneous syndromes (Facomatosis), (CSUR) which manages patients and families with neurofibromatosis, as well other diseases.  The CSUR is made up of a multidisciplinary team of professionals of the Germans Trias Hospital, the Catalan Institute of Oncology (ICO) in Badalona and the IGTP. The FEDER funding was awarded through a call managed by the Catalan Neurofibromatosis Association (AcNefi). "This will be used to advance lines of research in our group with two main objectives, both focussed on patient care," explains Castellanos.

In one line, the group aims to increase understanding of the effect of the mutations that occur in these patients and how they are involved in the physical signs of the disease in the patient; they will do this by carrying out functional studies to refine the criteria used in order to improve clinical prognosis for the disease.  In the other, they will focus on better understanding the quality of life for patients and the impact that having NF2 can have on them.  They will do this by administrating a detailed questionnaire specifically about the disease.  The objective is to know more about the factors influencing the appearance and seriousness of the manifestations of NF2 for each patient.  Besides this, they will find out more about the impact of the diagnostic and therapeutic interventions on prognosis and quality of life for these patients. In other words, "We want to develop new tools and resources to implement personalized medicine for NF2, to improve our genetic counselling and management of our patients," summarises Blanco.

About the CSUR

The National Reference Centre in genetic neurocutaneous syndromes (Facomatosis), (CSUR) has the mission of providing integrated management of patients with phakomatoses, a group of diseases that includes: neurofibromatosis types 1 and 2, family schwanomatosis, tuberous schlerosis and Von Hipple Lindau disease.  The healthcare team is multidisciplinary and includes medical professionals from different services in the hospital as well as the support of healthcare professionals, all working in close coordination with the Hereditary Cancer Research Group and Diagnostics service at the IGTP.  The unit can also treat patients from outside Catalonia, referred via the Information System of the Cohesion Fund (SIFCO) of the Ministry of Health.