The XIV CIBERER Annual Meeting has taken place in an online format from June 29th to July 1st with the aim of presenting the latest results on rare diseases generated by the CIBERER groups and Associated Clinical groups. Dra. Ana Rivera-Barahona from the Human Genetics and Molecular Pathophysiology group of the Instituto de Investigaciones Biomédicas Alberto Sols (CSIC-UAM) and U760 CIBERER led by Dr. Víctor Luis Ruiz-Pérez, has been awarded with the Best Oral Presentation Prize for her presentation entitled "Germline and mosaic variants in PRKACA and PRKACB cause a multiple congenital malformation syndrome".
The work reported by Dr. Ana Rivera-Barahona was coordinated by the IIBM group and is the result of a collaborative effort between national and international clinical and basic research groups. This work revealed that germline and mosaic mutations in two genes encoding the catalytic subunits of protein kinase A (PKA) cause a new syndrome with multiple congenital malformations. The study was published in the American Journal of Human Genetics (Am J Hum Genet. 2020 Nov 5; 107(5):977-988; doi: 10.1016/j.ajhg.2020.09.005).