Excel in rare diseases’ research: focus on lysosomal disorders and ciliopathies
The high diversity, low numbers and scattered distribution of patients affected rare diseases (RDs) represent a big challenge for biomedical research and health care, the patients and their families.
International cooperation is paramount to understand the etiology and find better diagnostic procedures for RDs. LYSOCIL addresses that need through a scientific strategy to reinforce research and innovation excellence in the study of lysosomal diseases and ciliopathies, with a special attention on the diagnosis and etiology of these diseases.
The Chronic Diseases Research Center of the NOVA Medical School (UNL-NMS-CEDOC) aims to be at the forefront of European and international scientific excellence in chronic RDs. Towards this goal, UNL-NMS-CEDOC is twinning with two internationally leading research institutions, the Münster University (WWU) and the Telethon Institute of Genetics and Medicine (TIGEM - FTELE.IGM). LYSOCIL will leverage on WWU and TIGEM’s outstanding multidisciplinary knowledge and experience, research and training best practices, as well as collaborative networks to enhance the research capacity and innovation potential of CEDOC-NMS.
LYSOCIL is an integrated network of interactions (exchange and training of researchers, satellite meetings, Winter Retreats, virtual think tanks, etc.), articulated with the individual and joint scientific agendas of the partners, to power the research capacity of CEDOC-NMS and of its local and national ecosystems. LYSOCIL expects to increase by 20% in multiple indicators by 2021, including the number of citations; h-index of UNL-NMS-CEDOC researchers; percentage of publications in top impact journals; number of international collaborations and publications.
By stimulating novel and long-lasting interactions between UNL-NMS-CEDOC, WWU and TIGEM (FTELE.GM) l unlock the research potential within and outside CEDOC-NMS, with an overall increase in the Portuguese and European RD research competitiveness.