- ASSISTANT PROFESSOR Neurology
- ASSISTANT PROFESSOR Genetics and Genomic Sciences
- ASSISTANT PROFESSOR Psychiatry
B.Sc., University of Navarra
Ph.D., University of the Basque Country
- 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 Assistant 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.
Dr. Harold and Golden Lamport Research Award
Icahn School of Medicine at Mount Sinai
2012 - 2013
Lucien Côté Early Investigator Award in Clinical Genetics
Parkinson's disease Foundation
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 secondaryDystonia.
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.
Paisán-Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, van der Brug M, López de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Martí-Massó JF, Pérez-Tur J, Wood NW, Singleton AB. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004 Nov; 44(4).
Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Annals of neurology 2009 Jan; 65(1).
Paisán-Ruiz C. LRRK2 gene variation and its contribution to Parkinson disease. Human mutation 2009 Aug; 30(8).
Paisán-Ruiz C, Houlden H. Common pathogenic pathways in melanoma and Parkinson disease. Neurology 2010 Nov; 75(18).
Marti-Masso JF, Ruiz-Martínez J, Makarov V, López de Munain A, Gorostidi A, Bergareche A, Yoon S, Buxbaum JD, Paisán-Ruiz C. Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. Human genetics 2012 Mar; 131(3).
Paisán-Ruiz C, Li A, Schneider SA, Holton JL, Johnson R, Kidd D, Chataway J, Bhatia KP, Lees AJ, Hardy J, Revesz T, Houlden H. Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiology of aging 2012 Apr; 33(4).
Krebs CE, Paisán-Ruiz C. The use of next-generation sequencing in movement disorders. Frontiers in genetics 2012 May; 3.
Karkheiran S, Krebs CE, Makarov V, Nilipour Y, Hubert B, Darvish H, Frucht S, Shahidi GA, Buxbaum JD, Paisán-Ruiz C. Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. Human genetics 2013 Mar; 132(3).
Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Di Paolo G, Walker RH, Shahidi GA, Buxbaum JD, De Camilli P, Yue Z, Paisán-Ruiz C. The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures. Human mutation 2013 Jun;.
Kruer MC, Jepperson T, Dutta S, Steiner RD, Cottenie E, Sanford L, Merkens M, Russman BS, Blasco PA, Fan G, Pollock J, Green S, Woltjer RL, Mooney C, Kretzschmar D, Paisán-Ruiz C, Houlden H. Mutations in gamma adducin are associated with inherited cerebral palsy. Annals of neurology 2013 Jul;.
Deik A, Johannes B, Rucker JC, Sánchez E, Brodie SE, Deegan E, Landy K, Kajiwara Y, Scelsa S, Saunders-Pullman R, Paisán-Ruiz C. Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia. Journal of neurology 2014 Sep;.
Ruiz-Martinez J, Krebs CE, Makarov V, Gorostidi A, Martí-Massó JF, Paisán-Ruiz C. GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment. Journal of human genetics 2015 Jul;.
Karkheiran S, Shahidi GA, Walker RH, Paisán-Ruiz C. PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review. Tremor and other hyperkinetic movements (New York, N.Y.) 2015 Jul; 5.
Sánchez E, Bergareche A, Krebs CE, Gorostidi A, Makarov V, Ruiz-Martinez J, Chorny A, Lopez de Munain A, Marti-Masso JF, Paisán-Ruiz C. SORT1 Mutation Resulting in Sortilin Deficiency and p75NTR Upregulation in a Family With Essential Tremor. ASN neuro 2015 Jul; 7(4).
Bergareche A, Bednarz M, Sánchez E, Krebs CE, Ruiz-Martinez J, De la Riva P, Makarov V, Gorostidi A, Jurkat-Rott K, Marti-Masso JF, Paisán-Ruiz C. SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy. Human molecular genetics 2015 Oct;.
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their relationships with such companies.
Dr. Paisan-Ruiz did not report having any of the following types of financial relationships with industry during 2014 and/or 2015: consulting, scientific advisory board, industry-sponsored lectures, service on Board of Directors, participation on industry-sponsored committees, equity ownership valued at greater than 5% of a publicly traded company or any value in a privately held company. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.
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