Sonia Santillán
Head of Medical Genetics
GeneSystems
Spain
Biography
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
Research Interest
Pharma
