The association 'For Elenita's smile' has donated 15,000 euros to investigate the rare disease NEDAMSS in Andalusia. This disorder affects only nine people in Spain. The donation is being made to the Progress and Health Foundation, with the aim of promoting research.
NEDAMSS, a complex neurodevelopmental disorder
NEDAMSS is a rare disease caused by a mutation in the IRF2BPL gene. This disorder causes regression, loss of speech, abnormal movements, and epilepsy. The disease progresses rapidly and currently has no cure.
One of those affected is Elenita, a seven-year-old girl from Granada. Despite current therapies, her parents hope that research will provide a definitive treatment.
Research in Andalusia to find new solutions
Researcher Thomas Widmann leads one of the most promising projects at the GENYO Center in Granada. This study has two approaches. The first involves growing cell lines with patient-specific variants as a model of IRF2BPL. These lines are used to test existing drugs that could be useful for the disease.
The second approach seeks to better understand the structure of the IRF2BPL protein. This could lead to the identification of new therapeutic targets. This research is complemented by studies at other centers, such as the Murcian Institute of Biosanitary Research.
Thanks to the collaboration between the patient association, public institutions, and the University of Granada, new hope is emerging for those affected by this rare disease.
