Coro Paisan-Ruiz, PhD
- ASSISTANT PROFESSOR | Neurology
- ASSISTANT PROFESSOR | Genetics and Genomic Sciences
- ASSISTANT PROFESSOR | Psychiatry
Research Topics:Epigenetics, Gene Discovery, Genetics, Genetics of Movement disorders, Human Genetics and Genetic Disorders, Molecular Biology, Neuro-degeneration/protection, Parkinson's Disease
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.
Multi-Disciplinary Training AreasGenetics and Genomic Sciences [GGS], Neuroscience [NEU]
BSc, University of Navarra
PhD, University of the Basque Country
Irma T. Hirschl/Monique Weill-Caulier Trust Research Award
Dr. Harold and Golden Lamport Research Award
Lucien Côté Early Investigator Award in Clinical Genetics
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.
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).
Nichols WC, Pankratz N, Hernandez D, Paisán-Ruíz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet (London, England) 2005 Jan-Feb; 365(9457).
Paisán-Ruíz C, Lang AE, Kawarai T, Sato C, Salehi-Rad S, Fisman GK, Al-Khairallah T, St George-Hyslop P, Singleton A, Rogaeva E. LRRK2 gene in Parkinson disease: mutation analysis and case control association study. Neurology 2005 Sep; 65(5).
Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. The Lancet. Neurology 2008 Mar; 7(3).
Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology 2008 Apr; 70(16 Pt 2).
Paisán-Ruíz C, Nath P, Washecka N, Gibbs JR, Singleton AB. Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. Human mutation 2008 Apr; 29(4).
Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Annals of neurology 2009 Jan; 65(1).
Nalls MA, Simon-Sanchez J, Gibbs JR, Paisan-Ruiz C, Bras JT, Tanaka T, Matarin M, Scholz S, Weitz C, Harris TB, Ferrucci L, Hardy J, Singleton AB. Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics. PLoS genetics 2009 Mar; 5(3).
Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nature genetics 2009 Dec; 41(12).
Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, Koul R, Raeburn S, Gieselmann V, Houlden H, Crosby AH. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Human mutation 2010 Apr; 31(4).
Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, Houlden H. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Movement disorders : official journal of the Movement Disorder Society 2010 Sep; 25(12).
Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Annals of neurology 2010 Nov; 68(5).
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, 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 Sep; 34(9).
Martí-Massó JF, Bergareche A, Makarov V, Ruiz-Martinez J, Gorostidi A, López de Munain A, Poza JJ, Striano P, Buxbaum JD, Paisán-Ruiz C. The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. Journal of molecular medicine (Berlin, Germany) 2013 Dec; 91(12).
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 Dec; 24(24).
Sanchez E, Darvish H, Mesias R, Taghavi S, Firouzabadi SG, Walker RH, Tafakhori A, Paisán-Ruiz C. Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism. Human mutation 2016 Nov; 37(11).
Khodadadi H, Azcona LJ, Aghamollaii V, Omrani MD, Garshasbi M, Taghavi S, Tafakhori A, Shahidi GA, Jamshidi J, Darvish H, Paisán-Ruiz C. PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism. Movement disorders : official journal of the Movement Disorder Society 2017 Feb; 32(2).
Taghavi S, Chaouni R, Tafakhori A, Azcona LJ, Firouzabadi SG, Omrani MD, Jamshidi J, Emamalizadeh B, Shahidi GA, Ahmadi M, Habibi SA, Ahmadifard A, Fazeli A, Motallebi M, Petramfar P, Askarpour S, Askarpour S, Shahmohammadibeni HA, Shahmohammadibeni N, Eftekhari H, Shafiei Zarneh AE, Mohammadihosseinabad S, Khorrami M, Najmi S, Chitsaz A, Shokraeian P, Ehsanbakhsh H, Rezaeidian J, Ebrahimi Rad R, Madadi F, Andarva M, Alehabib E, Atakhorrami M, Mortazavi SE, Azimzadeh Z, Bayat M, Besharati AM, Harati-Ghavi MA, Omidvari S, Dehghani-Tafti Z, Mohammadi F, Mohammad Hossein Pour B, Noorollahi Moghaddam H, Esmaili Shandiz E, Habibi A, Taherian-Esfahani Z, Darvish H, Paisán-Ruiz C. A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations. Molecular neurobiology 2017 May;.
Ruiz-Martínez J, Azcona LJ, Bergareche A, Martí-Massó JF, Paisán-Ruiz C. Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease. Neurology. Genetics 2017 Oct; 3(5).