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Biography Dr. Paisán-Ruiz is a human geneticist whose current research focuses on the understanding of the molecular and cellular mechanisms underlying neurodegeneration. She has an academic appointment as Associate Professor of Neurology, Psychiatry, and Genetics and Genomics Sciences at the Mount Sinai School of Medicine. Her current research is supported by the Parkinson's Disease Foundation (PDF), the Dystonia Medical Research Foundation (DMRF), and the National Institute of Neurological Disorders and Stroke (NINDS). Dr. Paisán-Ruiz received her B.Sc. degree from the University of Navarra (Pamplona, Spain) and her PhD degree from the Basque Country University (San Sebastián, Spain). Her PhD studies also included time spent at the Institute of Biomedicine of Valencia (Valencia, Spain) and the National Institute of Health (Bethesda, USA). Her PhD work describing the cloning of the LRRK2 gene [PARK8] resulted in the award of the Extraordinary Doctoral Thesis Prize. Her work describing the LRRK2 gene as a pathogenic gene for Parkinson’s disease (2004) has been cited for over 1000 times. Dr. Paisán-Ruiz performed her first post-doctoral training at the National Institutes of Health (Bethesda, USA) where she studied the genetic aspects of neurological disorders such as Parkinson’s disease, dystonia and spastic paraplegia. During this time she was involved in the identification of the PRKRA gene [DYT16] and the first genome-wide association study performed in Parkinson’s disease. Dr. Paisán-Ruiz continued her post-doctoral training at the UCL Institute of Neurology (London, UK), where she identified genetic causes underlying rare neurological disorders such as atypical parkinsonism [PARK14: PLA2G6] and neurodegeneration with brain iron accumulation [FAHN: FA2H]. At Icahn School of Medicine at Mount Sinai, Dr. Paisán-Ruiz already identified, among many other genetic discoveries, a novel gene for autosomal recessive Parkinsonism, SYNJ1. Dr. Paisan-Ruiz is currently a member of the editorial board for BMC Neurology and Neurology Research and serves as a ad-hoc reviewer for Neurology, Science Translational Medicine, Human Mutation, Movement Disorders, PLoS One, Annals of Neurology, Lancet Neurology, American Journal of Human Genetics, among others. Research Topics Epigenetics, Gene Discovery, Genetics, Genetics of Movement disorders, Human Genetics and Genetic Disorders, Molecular Biology, Neuro-degeneration/protection, Parkinson's Disease Multi-Disciplinary Training Areas Genetics and Genomic Sciences [GGS], Neuroscience [NEU] Education BSc, University of Navarra PhD, University of the Basque Country Awards 2016 Irma T. Hirschl/Monique Weill-Caulier Trust Research Award Icahn School of Medicine at Mount Sinai This award supports talented biomedical scientists committed to careers in academic research and in particular those who exhibit an exceptional potential for high quality productive research 2013 Dr. Harold and Golden Lamport Research Award Icahn School of Medicine at Mount Sinai This award is given to tenure-track Assistant Professors who show exceptional potential for making significant contributions over an extended period of time. 2012 Lucien Côté Early Investigator Award in Clinical Genetics Parkinson's disease Foundation The Côté Award supports postdoctoral researchers and junior faculty in the New York City metropolitan area whose clinical or basic science investigations explore the genetics of Parkinson’s disease. Research Elucidating and Understanding the genetic Basis of Movement Disorders The Laboratory of Neurodegenerative Diseases mainly focuses on the identification of the genetic causes underlying disease and to some extent on the understanding of the overall pathophysiology caused by a disease. In order to achieve this ambitious goal: 1. We collect DNA samples from families and idiopathic cases suffering from neurological disorders such as Parkinson’s Disease, Essential Tremor, Spastic Paraplegia, Ataxia, and primary and secondary Dystonia. 2. We employ a variety of molecular biology techniques to perform genome-wide linkage analyses, autozygosity mapping, genome-wide association studies, whole exome and genome sequencing approaches, targeted resequenicng (HaloPlex Technology), and RNA sequencing. 3. We examine the effects of mutations causing neurological diseases by introducing them in the zebrafish central nervous system. Our long-term goal is to elucidate and understand all genetic variability underlying and contributing to the development of movement disorders by integrating diverse molecular, genomic, and functional approaches.


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