investigación en enfermedades raras

Rare Disease Diagnosis and Research: Let’s Make Progress


According to the World Health Organization (WHO), a rare disease is one that occurs infrequently or rarely,and affectsa very small number of people worldwide. In the EU, diseases with a prevalence offewer than 5 in…

Read More...
x-fragil

Fragile X syndrome as told from an insider


What is fragile X syndrome? Fragile X syndrome (FXS) is an inherited genetic conditioncaused by a defect in the FMR1 gene located on the X chromosome; this gene provides instructions for making a protein called…

Read More...
El Síndrome 5P y la rehabilitación neuropsicológica la historia de Sofía 5p- syndrome

5p- syndrome and effectiveness of neuropsychological rehabilitation: the story of Sofía


 What is 5p- syndrome? 5p- syndrome is arare genetic disorder caused by a deletion of part of the short arm of chromosome 5.This condition is characterized bya distinctive cat-like cry inaffectedinfants, due to anomalies of…

Read More...
síndrome de Tourette

Deconstructing Tourette Syndrome


Have you heard of Tourette syndrome? In Spain, it is still considered a rare disease based on its prevalence in the population. However, studies at the international level indicate that the disorder is actually much…

Read More...
enfermedades raras-rare disease

Rare Diseases are not invisible


Today, Rare Disease Day 2017, NeuronUP would like to take this opportunity to give voice to 350 million people worldwide who suffer from a rare disease. What is a rare disease? When speaking of a rare disease,…

Read More...