The project LYSOCIL led by CEDOC-NMS|FCM researchers Duarte Barral and Susana Lopes from Membrane Traffic in Infection and Disease and Cilia Regulation and Disease Labs respectively was selected for funding for approximately 1M€ within the scope of the European Twinning funding instrument.
CEDOC-NMS will partner up with two internationally-leading institutions: the Münster University (WWU) from Germany, and the Italian Telethon Institute of Genetics and Medicine (TIGEM). This project is focused on reinforcing the R&I capacity of CEDOC in two main specific groups of Rare Diseases , which cover specifically lysosomal diseases and ciliopathies.
A Rare Disease, also referred to as orphan disease, is any disease that affects than 1 in 2,000 newborns according to the European definition. RDs are often progressive, destructive and life-threatening, dramatically reducing life quality of affected patients, families and friends and also impacting healthcare providers and society as a whole. For most of Rare Diseases, no effective treatment exists.
RDs face several problems: 1) lack of scientific knowledge; 2) lack of access to correct diagnosis, resulting in delayed diagnosis; 3) lack of evidence-based therapeutic approaches; 4) lack of access to specific health care; and 5) scarce funds for research on conditions with such a small market, and the lack of existing information and investigators working on the same disease which can create professional barriers. To change this situation a comprehensive approach to the study of RDs is necessary.
LYSOCIL addresses these needs through a scientific strategy to reinforce research and innovation excellence in the study of lysosomal diseases and ciliopathies.
Moreover, LYSOCIL will leverage the existing multidisciplinary knowledge and experience, research and training best practices and widen collaborative networks to step up the excellence of the researchers of the involved partners to a higher level.
Press Release in Portuguese here.