The second GRIN2B European annual conference on GRINpathies, genetic defects of NMDA receptors, organized by the European Association GRIN2B, the group of Dr. Xavier Altafaj and collaborators of the Pompeu Fabra University and the Hospital Sant Joan de Déu, took place this past weekend. This meeting aims is to foster interactions between families, doctors and researchers to work together towards possible treatments for GRIN2B disorders and other GRIN-associated diseases. Approximately 40 families from all over the world (15 different nationalities) attended the conference halls of Hospital Sant Joan de Déu in Barcelona.

The GRIN2B gene is responsible for producing a protein that is part of a type of receptors of glutamate (a neurotransmitter), the so-called ionotropic receptors of the NMDA type. These receptors are major components of the synapses, neuronal elements that allow communication between neurons in the brain. NMDA receptors have fundamental functions in synaptic development, brain plasticity, neuronal survival, cognition, motor skills, and social communication and interaction. Although recent studies describe the association between new genetic mutations of NMDA subunits and severe psychiatric disorders, knowledge of their pathogenic mechanisms and possible therapeutic interventions is very limited

This event included, on the one hand, conferences of researchers and clinicians, who provided some scientific background for families to gain a better understanding of the GRIN2B gene and its functions, and also offer them an overview of the research projects currently being carried out. On the other hand, the meeting also included time for informal dialogue with professionals and between participating families so that they know each other, share experiences and problems and create a cohesive support group capable of lobbying for GRIN2B research.

To advance in his research on mutations in the GRIN2B gene, the group of Dr. Altafaj, in addition to having renewed its national funding, has received a doctorate scholarship with ZeClinics, which will allow the launch of a collaborative GRINpaties study project.