A5052938436- Cardiac electrophysiology and arrhythmias
- Cardiovascular Effects of Exercise
- Ion channel regulation and function
- Cardiomyopathy and Myosin Studies
- Cardiac pacing and defibrillation studies
- Neuroscience of respiration and sleep
- CRISPR and Genetic Engineering
- Genomics and Rare Diseases
- Chronic Lymphocytic Leukemia Research
- RNA and protein synthesis mechanisms
- Genetic Neurodegenerative Diseases
- Cardiac Arrhythmias and Treatments
- Sports injuries and prevention
- Cardiovascular Function and Risk Factors
- Renal and related cancers
- Pluripotent Stem Cells Research
- Ion Transport and Channel Regulation
- Viral Infections and Immunology Research
- Genomic variations and chromosomal abnormalities
- Genomics and Phylogenetic Studies
- Genetic Associations and Epidemiology
- Palliative and Oncologic Care
- Congenital heart defects research
- Genetic and Kidney Cyst Diseases
- Wnt/β-catenin signaling in development and cancer
Universidade de Santiago de Compostela
2008-2024
Centre for Biomedical Network Research on Rare Diseases
2008-2024
Instituto de Salud Carlos III
2024
Center for Research in Molecular Medicine and Chronic Diseases
2020-2024
Instituto de Investigación Sanitaria de Santiago
2024
Centro de Investigación Biomédica en Red
2021-2024
Institut d'Investigació Biomèdica de Girona
2013-2021
University of Girona
2013-2021
University of California, San Diego
2019-2021
Fundación Pública Galega de Medicina Xenómica
2008-2020
Sudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies enable unraveling etiology and identification relatives at risk. The aim our study was to define natural deaths, younger than 50 years age, investigate whether defects associated with diseases could provide a potential for cases.Our cohort included total 789 consecutive cases (77.19% males) <50 old (average 38.6±12.2 old) who died suddenly from non-violent causes. A...
Background The use of next-generation sequencing enables a rapid analysis many genes associated with sudden cardiac death in diseases like Brugada Syndrome. Genetic variation is identified and 30–35% cases Syndrome, nearly 20–25% attributable to variants SCN5A, meaning remain undiagnosed genetically. To evaluate the role genetic arrhythmogenic utility sequencing, we applied this technology resequence 28 main disorders. Materials Methods A cohort 45 clinically diagnosed Syndrome patients...
Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) preferred genetic test, but diagnostic value of screening for minor and candidate genes, role copy number variants (CNVs) deserves further evaluation.
Abstract Advancements in genetic screening have generated massive amounts of data on variation; however, a lack clear pathogenic stratification has left most variants classified as being unknown significance. This is critical limitation for translating into clinical practice. Genetic currently recommended the guidelines diagnosis and treatment cardiac channelopathies, which are major contributors to sudden death young people. We propose characterize pathogenicity associated with...
Background Dilated cardiomyopathy, a major cause of chronic heart failure and cardiac transplantation, is characterized by left ventricular or biventricular dilatation. In nearly 50% cases the pathology inherited, more than 60 genes have been reported as disease-causing. However, in 30% familial mutation remains unidentified even after comprehensive genetic analysis. This study clinically genetically assessed large Spanish family affected dilated cardiomyopathy to search for novel...
Background Long QT Syndrome is an inherited channelopathy leading to sudden cardiac death due ventricular arrhythmias. Despite that several genes have been associated with the disease, nearly 20% of cases remain without identified genetic cause. Other alterations such as copy number variations recently related Syndrome. Our aim was take advantage current technologies in a family affected by order identify cause disease. Methods Complete clinical evaluation performed all members. In index...
Abstract Chimeric antigen receptor (CAR) therapy has emerged as a ground-breaking advancement in cancer treatment, harnessing the power of engineered human immune cells to target and eliminate cells. The escalating interest investment CAR recent years emphasize its profound significance clinical research, positioning it rapidly expanding frontier field personalized therapies. A crucial step design is choosing right determines therapy’s effectiveness, safety specificity against cells, while...