Dr. María-Jesús Sobrido, Specialist in Neurology and Medical Genomics

Dr. Sobrido received the Medical Graduate Extraordinary Award in from the University of Santiago de Compostela in 1992. Her neurology residency was at the Clinical Hospital of Santiago. She received the end-of-residency award for PhD research on Molecular Genetics, which she presented with Honors in 1999. Thanks to a fellowship from the Pedro Barrié de la Maza Foundation she carried out post-doctoral research on neurodegenerative diseases at the University of California Los Angeles (UCLA), in the Geschwind laboratory (1999-2001). She completed the Neurogenetics Fellowship at UCLA and spent short training stays in the hospitals Santa Creu i San Pau (Barcelona), Los Andes (Venezuela) and Aachen (Germany), as well as at the universities of Braunschweig and Mannheim. Dr. Sobrido is a Fellow of the European Neurology Board.

She worked as an attending neurologist at the University Hospital of Salamanca before moving to the Fundación Pública Galega de Medicina Xenomica-SERGAS, Galician Health System, as a Miguel Servet Investigator. She leads the research group on neurogenetics at the Instituto de Investigaciones Sanitarias de Santiago. The group´s research lines are molecular basis of neurological disorders, new genomic technologies for diagnosis of rare diseases and the development of bioinformatic tools and genetic databases to optimize diagnostic protocols.

Dr. Sobrido is a member of national and international societies: Galician Society of Neurology, Spanish Society of Neurology (SEN), Spanish Association for Human Genetics, American Academy of Neurology, joint European Federation of Neurological Societies-European Neurology Society (EFNS-ENS), European Society of Human Genetics, American Society of Human Genetics. She was coordinator of the Neurogenetics Study Group of the Spanish SEN, is a member of the commission on ataxias and spastic paraplegias and the commission on rare diseases. She is also a member of the commission on neurogenetic and neurometabolic diseases of the EFNS-ENS and of the Human Variome Project. She belongs to the Centre for Network Research on Rare Diseases (CIBERER), acts as reviewer for the National Agency of Evaluation and Prospective (ANEP), as well as for numerous scientific journals and societies. She belongs to the editorial board of Neurología, Human Mutation, Applied and Translational Genomics. She serves as scientific advisor to the European Federation of Familial Spastic Paraplegia, and the US Spastic Paraplegia Foundation. She supervised phD and Master´s theses, has published around 70 papers in scientific journals and book chapters. She has organized and participated as invited speaker in many venues at universities, scientific meetings, conferences and courses internationally.

Dr. Beatriz Quintáns, Clinical Genetics and Genomics

Dr. Quintáns graduated in Biology from the University of Santiago de Compostela and obtained a PhD Extraordinary Award with a research on molecular and population genetics, after which she specialized in the clinical application of genetics, completing her training at the Complexo Hospitalario Universitario de Vigo and Fundación Pública Galega de Medicina Xenómica. She implemented diagnostic genetic protocols for neurological and rare inherited diseases, optimizing several genotyping, sequencing and gene dosage analysis tools. She adapted bioinformatics applications and algorithms for mutation identification and interpretation.In the team she is responsible for technical and logistic support, as well as coordination between the clinic and the genetics laboratory to maximize the transference of results to the diagnostic process.

She is devoted to the study of rare and complex cases and database mining, in order to interpret the identified genetic variants. Dr. Quintáns has designed large scale genomic diagnostic protocols and implemented next generation sequencing of multiple candidate genes (targeted resequencing) and exomes (wholes exome sequencing). She has also applied other high-throughput genomic techniques, such as whole genome genotyping and arrayCHG for linkage and for gene dosage analysis. She participates in national and international projects on rare genetic diseases and family studies, whereby she acquired broad experience in the communication of genetic information. She is expert in personalized genetic counseling, addressing the key elements that allow patients and families to make informed decisions (pre-test counseling) and to receive interpretation of their genetic results in an understandable way (post-test counseling).

Dr. Quintáns is member of several scientific societies, such as the Spanish Human Genetics Association, European Society of Human Genetics, Spanish Society of Neurology, Galician Society of Neurlogy. She belongs to the Center for Network Research on Rare Diseases (CIBERER). She has authored many research papers and over 70 presentations at professional and scientific meetings. She carries out training activities on a routine basis, especially those oriented to disseminate knowledge on clinical and human genetics among patient support groups, families and lay society.

Dr. María García Murias, Molecular Genetics Laboratory

After graduating in molecular biology and biotechnology, Dr. García-Murias obtained a MsC in Biotechnological Engineering from the University of Santiago de Compostela. She pursued postgraduate studies in Medical Genetics at the University of Valencia and obtained her phD from the University of Santiago de Compostela with a dissertation on the genetics of spinocerebellar ataxias, under the direction of Drs. A Carracedo, M Arias and MJ Sobrido. She spent a training period at the Instituto de Biología Molecular e Celular (Porto).She is a member of the genomic medicine group of the University of Santiago de Compostela and the neurogenetics group of the Instituto de Investigaciones Sanitarias de Santiago since 2007. In addition to the ataxias, her research work and specialization included other areas of genetics, rare and neurologic disorders, such as genetic epidemiology of dementia, DNA expansion mutations in dystonia, chorea and other movement disorders, and genetic causes of brain calcifications.

Her work is reflected in publications in prestigious scientific journals, as well as communications at medical meetings. Dr. García-Murias has participated in national and international research consortia, acquiring expertise in all the main techniques of the molecular genetics laboratory. She belongs to scientific societies, such as the Spanish Human Genetics Association (AEGH) and the Spanish Society of Neurology (SEN). She participates and leads training activities for undergraduate and postgraduate students and residents.