Rare Commons | Sharing to move ahead

Sharing to move ahead

News

Se acerca el Día Internacional del Síndrome de Kabuki
10/07/2021
El próximo 23 de octubre se celebra el Día Internacional del síndrome de Kabuki , una de las…
Libro "Guía de Enfermedades Raras (Para pacientes, familiares y profesionales de la salud)"
10/04/2021
La Guía de Enfermedades Raras (Para pacientes, familiares y profesionales de la salud) , editada…

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We are researching

What is Rare Commons?

We research with you on rare diseases.
Research team

A coordinated project by the Hospital Sant Joan de Deu de Barcelona.
Why do research?

Know more today to cure tomorrow.

Familias

Families

You make research possible.

Clinicians

We work together to know more and assist better

Results

ENACH-PKAN

PKANDRS: escala de evaluación clínica testeada en 45 pacientes.
NBIA – PKAN

In our experience PKAN patients during the first years show dystonia and later, an atypical parkinsonism.
PMM2-CDG

Cerebellum is the main neurological structure affected in PMM2-CDG.
CDG syndrome

The usual findings in echocardiograhy often have little or no clinical implications.
Lowe syndrome

55% of children with epilepsy need more than one antiepileptic drug.