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GENOMES & DISEASE

'We investigate the patterns and mechanisms of genomic variation in disease'

Ana Fernández-Marmiesse | Group leader

Head of Genomas y enfermedad
amarmiesse@gmail.com

Ana Fernández-Marmiesse earned her degree in Biochemistry and Molecular Biology from the University of Oviedo, and subsequently specialized in Clinical Biochemistry at the University Clinical Hospital of Santiago while completing her PhD in genetics. She has since been awarded contracts funded by the University of Santiago de Compostela, the Ramón Domínguez Foundation, and the Carlos III Health Institute (Río Hortega and Juan Rodés contracts). Since 2011 she has focused her activity on the NeuroMeGen project (www.neuromegen.com), which is dedicated to the development, optimization, and application of genomic tools to support the diagnosis of rare neurological and/or metabolic diseases. An expert in next generation sequencing (NGS) technologies and NGS data interpretation, since 2015 she has published 19 articles in Q1-Q2 journals on the study of rare diseases, and has actively participated in national and international conferences and scientific meetings.