Senior Research Scientist, Spanish National Center for Cardiovascular Research (CNIC), Spain
Dr. Juan Pablo Ochoa, MD, PhD, is a specialized cardiologist and Senior Research Scientist expert on cardiovascular genetics at the Spanish National Center for Cardiovascular Research (CNIC) in Spain. His research profile is defined by a “BigData-driven Discovery and Mechanistic Validation” approach, seamlessly integrating deep clinical phenotyping, large-scale genomic analysis, and advanced functional modeling using iPSC and CRISPR technologies. Dedicated to resolving the missing heritability of inherited cardiomyopathies, his strategic research has driven the discovery of novel disease-causing genes, including FHOD3, MYZAP, and TBX20. Recently, Dr. Ochoa established and formalized the “Intermediate-Effect Variant” (IEV) framework, pioneering a new paradigm to explain incomplete penetrance and quantitative risk in cardiac genetics. With over 100 peer-reviewed publications in top-tier cardiovascular journals and extensive experience directing clinical genomic programs, he currently leads international genomic consortium packages focused on accelerating precision cardiology and redefining molecular disease classification.