You, the family members, are the main source of information concerning the rare diseases affecting children. As carers you live with the illness 24 hours a day, every day of the year.
In recognition of this, we at the Sant Joan de Déu Hospital urge you to take part in the pilot project phase of Rare Commons, by completing the following form which currently includes the following diseases:
- Diseases associated with mutations in OCRL1: Lowe syndrome and Dent Disease 2.
- Congenital Disorders of Glycosylation (CDG)
- Neurodegeneration with Brain Iron Accumulation
- Hereditary retinal dystrophies: Stargardt disease, Leber congenital amaurosis, achromatopsia, cone dystrophy and X-linked retinoschisis.
If the illness that affects your family is not included in this list...
And you would like to suggest its inclusion as a new candidate for study, please do so by filling in the following form. After reviewing the requests that we receive, we will select those with the best chance of useful study based on the number of requests received and the medical characteristics of the disorder. After we have received your request and have had a chance to review it you will receive personalized information from the Rare Commons team.
Please take the time to watch the following video in order to learn more about the importance of research in rare diseases, through it (into Spanish language):