- ASSISTANT PROFESSOR Neurology
- ASSISTANT PROFESSOR Psychiatry
- ASSISTANT PROFESSOR Genetics and Genomic Sciences
Ph.D., University of the Basque Country
B.Sc., University of Navarra
- 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.
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 700 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].
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 Human Mutation, Movement disorders, PLoS One, Annals of Neurology, Lancet Neurology, American Journal of Human Genetics, among others.
Laboratory of Neurodegenerative DiseasesThe 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 and whole exome sequencing approaches.
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 disease by integrating diverse molecular, genomic, and functional approaches.
Publications (selected 7 out of 44 publications)
1. Marti-Masso JF, Ruiz-Martínez J, Makarov V, de Munain AL, Gorostidi A, Bergareche A, Yoon S, Buxbaum JD and Paisán-Ruiz C: Exome sequencing identifies GCDH(glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. Human Genet 2011 Sep 13th.
2. Paisán-Ruiz C and Houlden H: Common pathogenic pathways in Melanoma and Parkinson’s disease. Neurology 2010 Nov 2; 75 (18): 1653-1655.
3. Kruer MC*, Paisán-Ruiz C*, Boddaert N*, Yoon MY, Hama H, Gregory A, Malandrini A, Randall L, Woltjer RL, Munnich A, Polster BJ, Palmeri S, Edwardson S, Hardy J, Houlden HH and Hayflick SJ: Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol 2010 Nov; 68(5): 611-618.
4. Paisán-Ruiz C: LRRK2 mutation and its contribution to Parkinson’s disease. Mutation Update. Human Mutation 2009; Apr 21; 30(8): 1153-1160.
5. Paisán-Ruiz C, Bhatia K.P, Li A, Hernandez D, Davis M, Wood N.W, Hardy J, Houlden H and Singleton A: Characterisation of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 2009 Jan; 65(1): 19-23.
6. Paisán-Ruíz C, Nath P, Washecka N, Gibbs J.R and Singleton A.B: Comprehensive analysis of LRRK2 in publicly available Parkinson’s disease cases and neurologically normal controls. Hum Mutat. 2008 Apr; 29 (4): 485-490.
7. Paisán-Ruiz C*, Jain S*, Evans EW, Gilks WP, Simon J, van der Brug M, Lopez de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Marti-Masso JF, Perez-Tur J, Wood NW and Singleton AB: Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron. 2004 Nov 18; 44(4): 595-600.
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 2012 and/or 2013: 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 at http://icahn.mssm.edu/about-us/services-and-resources/faculty-resources/handbooks-and-policies/faculty-handbook. Patients may wish to ask their physician about the activities they perform for companies.
Annenberg Building Floor 22 Room 22-24C Office
1468 Madison Avenue
New York, NY 10029
Annenberg Building Floor 22 Room 22-38 Lab
1468 Madison Avenue
New York, NY 10029