The XVI Annual Meeting of the Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, took place on March 22-24 in San Lorenzo de El Escorial. In this year's forum, in which not only CIBERER groups but also clinical associated groups participated, the latest results obtained by this consortium were presented. In addition, numerous topics of interest related to the subject of Rare Diseases were discussed.
The Prize for the Best Oral Presentation, selected through voting by the participants, was awarded to Asier Iturrate Soleto, who is currently working on his PhD Thesis in the Human Genetics and Molecular Pathology group of the Instituto de Investigaciones Biomédicas Alberto Sols, IIBM (CSIC-UAM) and U760 CIBERER, directed by Dr. Víctor Luis Ruiz-Pérez. The work presented by Asier was entitled "Bi-allelic mutations in SCNM1 identified as a new cause of orofaciodigial syndrome due to aberrant minor intron splicing".
This work is the result of the research carried out by the Dr. Victor Ruiz's group from the IIBM in collaboration with clinical laboratories, both national and international, and it has been published in the American Journal of Human Genetics.
Dr. Victor Ruiz's group has been awarded twice before by CIBERER. The IIBM congratulates both Asier and his group for this award.