Making the complex simple

Miguel Cabo is responsible for Sistemas Genómicos’ Health Informatics Department. He holds a Masters’ Degree in Computing Technologies, specialising in Health Care Services and Ambient Assisted Living from the University of Alicante. He began his professional career as a researcher in Intelligent Environments and e-Health in 2008 at the University of Alicante, where he participated as a lecturer at the Masters of Home Automation (Edition 2008-2009). He has written several articles of national and international scope relating to his research and he has participated in various R&D national and European projects (CENIT, FEDER, FP7, H2020). In Sistemas Genómicos, he is involved in European-funded research projects and leads the R&D of ICT developments of the company

Juan Carlos Triviño heads the Bioinformatics Department at Sistemas Genómicos where he coordinates a team of five persons. His main area of expertise revolves around the analysis, functional interpretation and the application of Systems Biology to NGS data, whether genomic or transcriptomic, with a specific interest in health applications. He graduated in Integrative Biology and Biochemical Systems and has a Master’s in Bioinformatics, in Applied Biostatistics and in Advanced Biostatistics

She holds a PhD in Biological Sciences and is a specialist in Molecular Biology. She has worked with Sistemas Genómicos since its creation in 1998. She is head of the New Technologies Department and has been directly related with all the research projects that the firm has undertaken. She has more than 20 publications in various scientific journals and has broad experience in handling and analysing sequences

Xavier Vendrell heads Sistemas Genómicos’ Reproductive Genetics Unit. He is a leading expert in PGD (Preimplantation Genetic Diagnosis) and assisted reproduction techniques. He has a PhD in Biology specializing in clinical embryology. He is a member of the Spanish Fertility Society, of the Association for the Study of Reproduction Biology (member of the PGD group), of the European Society of Human Reproduction and Embryology (member of the PGD Consortium) and of the PGD International Society. He is also an active lecturer in reproductive genetics at several leading Spanish universities. Together with his team, he has developed PGD for more than 200 diseases and has published about 40 articles in prestigious scientific publications

Sonia Santillán is in charge of Sistemas Genómicos’ Medical Genetics Unit. With her team, she has been developing and implementing Next Generation Sequencing panels applied to the diagnosis of cardiovascular and neurological diseases, skeletal dysplasias, intellectual disability, epilepsy, myopathies and muscular dystrophies, hearing loss and hereditary cancer, by designing more than 3,000 genes associated with heterogeneous genetic diseases as well as participating in scientific research to identify genes involved in those diseases. She is a Doctor in Medicine and Surgery with the Universidad de Ecuador and has a PhD in Health Sciences specialising in Innovation and Technological Development from the Universidad de Alicante. She has received awards from UNESCO in 1999 and Franklin Encalada in 1997 for her ability to spread the applicability of genetic diagnosis of diseases. She is a member of the Spanish Society of Haematology, the Spanish Association of Genetics, the European Cytogeneticists Association and European Society of Human Genetics

Javier Benitez is the Project Adviser to Sistemas Genómicos, where he has led the strategy for genetic diagnosis with NGS gene panels for hereditary diseases. Director of the Human Genetics Group at the Spanish National Centre for Oncology Research (CNIO - from the Spanish), he has dedicated over 20 years to researching hereditary and family cancer focusing on the characterisation of genes associated with cancer using high throughput technologies. He has been the President of the Spanish Society of Human Genetics and is currently an active member of various scientific societies and a reviewer for various scientific publications and funding agencies. He has been Professor of Human Genetics at the Universidad Francisco de Victoria in Madrid, and is Honorary Professor at the Universidad Autónoma in Madrid. He is also Director of the Spanish National Genotyping Centre (CEGEN, Madrid). He has a PhD in Human Genetics from the Universidad Complutense of Madrid.