The XV Center for Biomedical Research Network on Rare Diseases (CIBERER) Annual Meeting has taken place in hybrid format (face-to-face and online) from 26th to 27th of June with the aim of presenting the latest results on rare diseases produced by the CIBERER groups and Clinical Associated groups. Dr. Ana Rivera-Barahona, from the Human Genetics and Molecular Pathophysiology group of the Instituto de Investigaciones Biomédicas Alberto Sols, IIBM (CSIC-UAM) and U760 CIBERER led by Dr. Víctor Luis Ruiz-Pérez, has been awarded with the Best Oral Presentation Prize for the presentation "Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly".
The work presented by Dr. Ana Rivera-Barahona is the result of the research carried out by the IIBM group coordinated by Dr. Ruiz-Pérez, as well as the outcome of the collaboration between this group and clinical laboratories, both national and international. This work illustrates that mutations in the gene coding for the mitogen-activated protein kinase-activated protein kinase 5 (MAPKAPK5) cause a new syndrome of multiple congenital malformations involving neurocardiofaciodigital anomalies. The study was published in Genetics in Medicine