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Aquesta troballa és del que més orgullós em sento perquè és el primer gen causant d'esclerosi múltiple i espero que tingui una à mplia repercussió en les opcions de tractaments futurs per als pacients ", assegura Vilariño-Güell
Assistant Professor and Canada Research Chair in Molecular Characterization of Neurological Diseases
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Background
Summary
To successfully develop therapeutic initiatives designed to eradicate the causes of disease, rather than treat its symptoms, it is paramount to have a clear understanding of the underlying biological mechanisms implicated in the development of such diseases. My research is focused on the identification of the molecular components implicated in highly prevalent neurological diseases; including multiple sclerosis and essential tremor. To identify the key molecular players implicated in the onset of these neurological diseases, our research is focused on the characterization of multi-incident families and large multi-ethnic populations from around the globe.
Experience
Assistant Professor and Canada Research Chair in Molecular Characterization of Neurological Diseases
The University of British Columbia
October 2012 – Present (3 years 9 months)Brain Research CentreDirector of Genetics
Synaptitude Brain Health
January 2015 – Present (1 year 6 months)Synaptitude Brain Health seeks to leverage the amazing advances in brain imaging, genomic, energetics, and cell signaling for the benefit of human brain health, with the goal of maximizing the potential of neuroplasticity. For additional information please visit www.synaptitudebrainhealth.com
Director
DMCBH Next Generation Sequencing Centre
August 2013 – Present (2 years 11 months)Centre for Brain Health, University of British ColumbiaThe Centre for Brain Health (CBH) within UBC is a Certified Service Provider for whole exome, transcriptome and targeted DNA or RNA sequencing. For additional information please visit www.ngs.med.ubc.ca
Research Associate
The University of British Columbia
August 2010 – September 2012 (2 years 2 months)
Assistant Professor in Neuroscience
Mayo Clinic
February 2007 – July 2010 (3 years 6 months)Identification and study of the genetic components implicated in Parkinson disease and related movement disorders
Postdoctoral Research Fellow in Statistical Genetics
University College London - Institute of Neurology
September 2005 – January 2007 (1 year 5 months)
Publications
Nuclear Receptor NR1H3 in Familial Multiple Sclerosis(Link)
Neuron
June 1, 2016Multiple sclerosis (MS) is an inflammatory disease characterized by myelin loss and neuronal dysfunction. Despite the aggregation observed in some families, pathogenic mutations have remained elusive. In this study we describe the identification of NR1H3 p.Arg415Gln in seven MS patients from two multi-incident families presenting severe and progressive disease, with an average age at onset of 34...more
Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression(Link)
Neurogenetics
April 2014Progressive multiple sclerosis does not associate with rs996343 and rs2046748.(Link)
Multiple Sclerosis
December 2013DNAJC13 mutations in Parkinson disease.
Human Molecular Genetics
November 2013Identification of FUS p.R377W in essential tremor.
European Journal of Neurology
July 2013Translation initiator EIF4G1 mutations in familial Parkinson disease.(Link)
American Journal of Human Genetics
September 2011Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.(Link)
Lancet Neurology
October 2011A genetic risk factor for periodic limb movements in sleep.(Link)
New England Journal of Medicine
January 2008Languages
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English
Full professional proficiency -
Spanish
Native or bilingual proficiency -
Catalan
Native or bilingual proficiency
Skills
Top Skills
- 22Genetics
- 20Neuroscience
- 16Molecular Biology
- 13Molecular Genetics
- 11Genomics
- 8Research
- 7Neurodegenerative...
- 5Neurological Disorders
- 5PCR
- 4Neurology
