More than 50 Portuguese Professionals and Families participated in the translation from Spanish to Portuguese of relevant friendly resources that will increase understanding and knowledge in the field of Rare Metabolic Diseases.

More information at http://www.apcdg.com and http://www.guiametabolica.org/

Part of the material is currently available as PDF at the end of each article.
Please read and share at:
Patient registries
Autism in Rare diseases
Dysphagia I
Dysphagia II
Dysphagia III
From gene to protein
Epilepsy
Inform consent
Nasogastric tube
Diagnosis of a rare disease
Cryptorchidism

To raise awareness on CDG, rarecommons is interviewing several patient advocates. Please read the interviews and share with your family, friends and colleagues:

https://www.rarecommons.org/en

Lisbon, 20 September 2015- CDG patient groups is thrilled to announce that continues teaming up with Rarecommons. CDG is in a relevant moment as for research. The findings obtained so far are of great importance to shape future CDG therapeutic programs. Rarecommons is a research project on metabolic rare diseases, where families and professionals generate scientific knowledge united on a particular disease. As CDG is in a great need to boost clinical research, the resources and surveys to be fulfilled by families will be available in several languages.

CDG and Lowe Syndrome were considered as model diseases to start this project. Outcomes generated so far were: (1) the successful fundraising campaign needed to set up the platform, (2) the robust partnerships set up within families and professionals to create and translate the surveys and (3) altogether, CDG knowledge increased and consequently the reliable findings obtained so far on CDG, shapes the drug development in this complex disease.

Importantly, the project complements the overall existing research projects that are ongoing at this moment in other relevant international CDG laboratories. In addition, contributes to major sharing knowledge and brainstorming amongst CDG professionals.   More information: Website: https://www.rarecommons.org/en