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The discovery of this new group of rare diseases, associated with brain malformations, intellectual disability, and seizures, was made possible by a unique medical case. A child in Germany had gone

One of the greatest challenges in rare disease research is the limited availability of biological samples. We all know that studies based on small sample sizes often yield less conclusive results than

A recent article published in the Rare Disease and Orphan Drugs Journal highlights the critical role of patient organisations in promoting newborn screening for rare diseases. The goal of these tests

In a recent article published in Human Genetics, a research team identified genetic variants (mutations) in the MAP3K20 gene that cause malformations in the hands and feet, hearing loss, and

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

Language and country discrimination to access clinical trials have been identified as issues that violate children's rights in different regulatory environments. An EnprEMA working group is leading a

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