Neurodegenerative monogenic pediatric diseases affect approximately 1% of newborns worldwide, causing significant health threats and a heavy care burden. The Andalusian public health system is making significant efforts to understand and research these conditions, many of which fall under the category of rare diseases due to their low prevalence. The support of patient associations is essential for advancing the study of these complex conditions.
‘For Elenita’s Smile’ is one of these entities committed to finding a cure for the rare disease NEDAMSS (neurodevelopmental disorder with regression, abnormal movements, speech loss, and epilepsy). They have recently made a donation of nearly 15,000 euros to the Progress and Health Foundation, an entity of the Ministry of Health and Consumption, to continue researching this condition.
This neurodevelopmental disorder, caused by a mutation in the IRF2BPL gene, is a rapidly progressive rare disease currently without a cure, affecting Elenita, a seven-year-old girl from Granada. A multidisciplinary therapeutic approach is trying to slow down the consequences of the disease, but what truly gives hope to this little girl’s parents is research towards a more definitive treatment. That’s why this patient association is working to raise funds for the three lines of research open on this disease, and also to raise awareness and support those affected by it. In this regard, one of those lines of research is led by the researcher at the Progress and Health Foundation, Thomas Widmann, and is carried out at the GENYO center (Granada). The work also receives support through the University of Granada’s own funds.
The research conducted by Widmann has two approaches. The first addresses the growth of cell lines with the particular variants of patients as an IRF2BPL model. These lines will be used to test and validate possible drug repositioning for the treatment of the disease. In a second approach, Thomas Widmann is modeling the structure of the IRF2BPL protein and predicting its interaction profile with other proteins to find new therapeutic targets.
The work carried out in Andalusia is complemented by two other studies, led by the Murcian Institute of Biosanitary Research Pascual Parrilla and the Berlin Institute for Medical Systems Biology.
Thanks to the investment of the patient association, along with the institutional support of public health and the University of Granada, this line of research being developed in Andalusia provides hope to young patients and their parents.