Rocío Acuna Hidalgo, PhD

Rocío Acuña Hidalgo, Ph.D. is a medical doctor and human geneticist based in Berlin, Germany. Her expertise lies in combining Next Generation Sequencing (such as exome sequencing) and molecular biology approaches to study mutations and understand how they lead to human disease. Rocío has carried out research focused on the genetics of developmental disorders, which are characterized by congenital malformations and neurodevelopmental alterations. She completed her PhD at Radboud Medical Center, where she studied the molecular effects of SETBP1 mutations in Schinzel-Giedion syndrome using computer modeling and carrying out experiments in cells, including analyzing cell lines derived from patients with Schinzel-Giedion syndrome. She was a postdoctoral fellow at the Max Planck Institute for Molecular Genetics in Berlin, where she worked on novel technologies to improve the diagnosis of patients with genetic disorders. She then co-founded Nostos Genomics, a company developing software to improve the diagnosis of patients with genetic diseases. She currently serves as the Chief Technological Officer at Nostos Genomics.