Sharing to move ahead

Collaborations

Scientific collaborations

Unit 703 of CIBERER, a group of researchers specialized in rare metabolic diseases, is made up of doctors and scientists at the Sant Joan de Déu Hospital in Barcelona.
Mónica Fernández, with a doctorate in biology, is the main investigator in a basic research project examining the metabolism of phosphoinositide in the neurophysiology and neuropathology implicated in Lowe syndrome.
Biomedical Diagnostic Center (CDB) Hospital Clínic has different specialties related to Clinical Laboratory and participates in the molecular study of patients with congenital disorders of glycosylation (CDG) and fibroblast culture for basic research on the syndrome of Lowe.
The Center for the Diagnosis of Molecular Diseases of the Science Faculty of the Autonomous University of Madrid is collaborating in the molecular study of patients with congenital disorders in glycosylation (CDG).
The Cerebra Centre for Neurodevelopmental Disorders from the School of Psychology of the Birmingham University have a research project to describe the behavioural phenotype of Lowe syndrome boys. Rare Commons collaborates with their study trying to find the correlation between behavioural aspects and other clinical and molecular findings.

Technical collaborations

In 2013 the Sant Joan de Déu Hospital in Barcelona won the Hinnovar first prize in the category of Hospital Management for the project that gave rise to the Rare Commons initiative.
The María Francisca de Roviralta Foundation contributed to the financing of technical work toward the development of the scientific content of the Rare Commons platform.
The Rare Commons project was the winner of the prize for social responsibility awarded by the Japanese automotive company Honda, entitled "Honda: your project, our project." The candidates were voted upon on social media, and the winner was selected from among the top ten vote-getters by a panel of experts.

Patient associations

Rare Connect is a project of Eurordis, whose aims are to provide a safe place where connecting with others globally, for sharimg life experiences and finding information and practical resources. Rare Commons collaborates with Rare Connect supporting families and patients interested in connecting with peers, considering the favourable aspects that social support has in improving their quality of life.
The Lowe Syndrome Association of Spain, collaborated with the pilot edition of the research project related to the description of the natural history of the disease, and currently participates in the development of the patient community (for families) with a boy with this disease.
AISLO (Associazione Italiana di Lowe Syndrome) participates in the biomedical study of Lowe syndrome, participating in the process of describing the natural history of the disease.
Lowe Syndrome Association du (France) participates in the biomedical study of Lowe syndrome, in the process of describing the natural history of the disease.
The Spanish Association of CDG syndrome collaborates with Rare Commons, with a project which aims is the development and validation of scales for assessing and mesure the neurological, cognitive-behavioral and neuroimaging affectation of children with CDG syndrome.
The Portuguese Association for CDG is an active member in the international community of CDG patients' associations and coordinates the organization's global event that every two years takes place. That event brings together scientists currently researching about the disease, and also associations of patients and families from all around the world.
ENACH Association participates in a research project coordinated by the Hospital Sant Joan de Deu with more than 15 national centers. Its aim is to characterize clinically and genetically Spanish patients. We worked on the design and validation of a clinical scale that allows us to quantify the evolution of symptoms and the effectiveness of future therapies.
La Fundación Amigos de Nono is a national organization that aims to promote research which contributes to a better quality of life for affected children with Menkes diasease, as well as the study of a possible treatment.
Association with 20 years of history and which tends to the needs of people with osteogenesis imperfecta (OI). In the Sant Joan de Déu Hospital collaborates with a counselling service within the framework of the multidisciplinary unit of the pathology, coordinated by the unit of pediatric rheumatology.