Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

Carmen Espinós

Team Leader

 
 
Dr. Espinós is graduated in Biological Sciences (University of Valencia) in 1993. She began her scientific activity in human genetics in the development of his doctoral thesis defended in 1998.

Since then she has participated in projects related to the investigation of the genetic basis of retinopathy, congenital coagulation disorders, metabolic diseases and peripheral neuropathies. In 2009 she was awarded with a contract within the Program Miguel Servet of the Instituto de Salud Carlos III as an independent researcher. She is the author of numerous publications on the genetic basis of rare diseases in international journals of impact. She is accredited in Human Genetics by the Spanish Association of Human Genetics, and scientific director of the Service of Genomics and Translational Genetics at the Prince Felipe Research Centre (CIPF).

Since 2013, Dr. Espinós heads the Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Diseases, where the main research lines are focused on the characterization of new genes and new mutations involved in rare neurological disorders  and the study disease mechanisms underlying this group of disorders.