Research

Pitt-Hopkins syndrome is a rare genetic disorder caused by mutations in the TCF4 gene, which plays a key role in the normal development of the nervous system. Children with this condition often

According to the U.S. National Institutes of Health, 20% of the adult population suffers from chronic pain, and currently, there are no effective treatments to address it. This type of pain is closely

Thanks to recent advances in genomic sequencing, we have found out that 5-15% of children are genetically predisposed to developing a tumour. However, until now, it was not clear when to start

Since 2014, the renowned neuroscientist Óscar Marín has been leading the Centre for Neurodevelopmental Disorders at King's College London, where he studies human brain development. He will direct this

In response to inquiries and requests from those interested in this year's project call, Share4Rare will grant funding to the best collaborative research initiative based on data reported by patients

A recent study published in the scientific journal Pediatric Neurology provides new insights into the clinical, genetic, and pathophysiological aspects of TRAF7 syndrome, an ultra rare neurological

People need to name things. Naming is our way of creating some order in this chaotic world. Unfortunately, many people are not able to name their disease. In Europe, it takes an average of five years

A pioneering clinical trial led by Dr Àngels Garcia-Cazorla from the Sant Joan de Déu Research Institute · Sant Joan de Déu Hospital has demonstrated that oral administration of the amino acid L

Share4Rare aims to enhance research on rare diseases through collaborative knowledge generation. The platform provides researchers with a secure infrastructure to conduct their investigations

In science, things take time, but perseverance can eventually bear fruit. The results of this work, published in the European Journal of Human Genetics, began in 2004 with the study of a 12-year-old

A team of experts from the Sant Joan de Déu Research Institute and the IRB Barcelona has studied the cases of four children who have developed two different tumours to try to solve the origin of the

Education stands as a key pillar of Share4Rare. Thus, we are constantly working to provide the rare disease community with tools and resources to better understand the various research dimensions of