European project ProFFIle facilitates a dynamic meeting between researchers and prion disease-affected associations

ProFFIle consortium researchers and representatives from various patient associations come together during the VII Annual Convention of individuals affected by and professionals in prion diseases, organized by the Spanish Foundation for Prion Diseases (FEEP). The event, held on November 18th, underscored the proactive engagement of patient groups in advancing research on this rare and challenging disease.

As part of the European project ProFFIle, an acronym for "Predicting Fatal Familial Insomnia," funded by the EU Joint Programme – Neurodegenerative Disease Research (JPND), a dynamic convergence transpired, uniting researchers and representatives from diverse patient associations.

This gathering took place during the VII Annual Convention, organized by the Spanish Foundation for Prion Diseases (FEEP), emphasizing the active involvement of patient groups dedicated to advancing research on this uncommon and complex ailment.

Comprising researchers from various European countries, the project's primary objective is the identification of biomarkers for the early detection of Fatal Familial Insomnia (FFI), a neurodegenerative disease currently without effective treatment.

Prion diseases, including FFI, are characterized by abnormal protein folding in the central nervous system, leading to self-perpetuating and neurotoxic capabilities, ultimately causing rapid brain degeneration. FFI, specifically linked to a gene mutation, manifests as a hereditary disease, with higher prevalence in certain regions such as the Basque Country and northern Italy.

Acknowledging the inherent challenges posed by the limited availability of biological samples for predictive marker research, the ProFFIle project strategically formed a collaborative consortium of European researchers. This consortium includes esteemed researchers from the Prion Research Laboratory, led by Joaquín Castilla, Ikerbasque Research Professor at CIC bioGUNE – member of BRTA - and researchers from IIS Bioaraba, as well as groups from the Mario Negriand Carlo Besta Research Institutes in Milan, the University Hospital of Göttingen in Germany, and Sabanci University in Turkey.

This gathering brought together ProFFIle consortium researchers and representatives from various patient associations underlining the critical involvement of associations representing affected individuals and their families. The resultant collaborative efforts, involving representatives from associations such as FEEP and the Associazione Familiari Insonmia Familiare Fatale (AFFIF), underscore the proactive engagement of patient groups in propelling research forward on this rare and challenging disease.

About CIC bioGUNE

The Centre for Cooperative Research in Biosciences (CIC bioGUNE), member of the Basque Research & Technology Alliance (BRTA), located in the Bizkaia Technology Park, is a biomedical research organisation conducting cutting-edge research at the interface between structural, molecular and cell biology, with a particular focus on generating knowledge on the molecular bases of disease, for use in the development of new diagnostic methods and advanced therapies.

About Ikerbasque

Ikerbasque - Basque Foundation for Science - is the result of an initiative of the Department of Education of the Basque Government that aims to reinforce the commitment to scientific research by attracting, recovering and consolidating excellent researchers from all over the world. Currently, it is a consolidated organization that has 290 researchers/s, who develop their work in all fields of knowledge.

About BRTA

BRTA is an alliance of 4 collaborative research centres (CIC bioGUNE, CIC nanoGUNE, CIC biomaGUNE y CIC energiGUNE) and 12 technology centres (Azterlan, Azti, Ceit, Cidetec, Gaiker, Ideko, Ikerlan, Lortek, Neiker, Tecnalia, Tekniker and Vicomtech) with the main objective of developing advanced technological solutions for the Basque corporate fabric.

With the support of the Basque Government, the SPRI Group and the Provincial Councils of the three territories, the alliance seeks to promote collaboration between the research centres, strengthen the conditions to generate and transfer knowledge to companies, contributing to their competitiveness and outspreading the Basque scientific-technological capacity abroad.

BRTA has a workforce of 3,500 professionals, executes 22% of the Basque Country's R&D investment, registers an annual turnover of more than 300 million euros and generates 100 European and international patents per year.