La vaca

02-06-2016  (3683 lectures) Categoria: Articles

Carles Vilariño i Güell

Aquesta troballa és del que més orgullós em sento perquè és el primer gen causant d'esclerosi múltiple i espero que tingui una àmplia 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

  1. The University of British Columbia,
  2. Synaptitude Brain Health,
  3. DMCBH Next Generation Sequencing Centre
  1. The University of British Columbia,
  2. Mayo Clinic,
  3. University College London - Institute of Neurology
  1. University of Leicester



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.


Director 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


DMCBH Next Generation Sequencing Centre
August 2013 – Present (2 years 11 months)Centre for Brain Health, University of British Columbia

The 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

Adjunct Professor

University of Saskatchewan
July 2012 – Present (4 years)

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

University of Oxford
April 2003 – August 2005 (2 years 5 months)


Nuclear Receptor NR1H3 in Familial Multiple Sclerosis(Link)

June 1, 2016

Multiple 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

Analysis of CYP27B1 in multiple sclerosis.(Link)

Journal of Neuroimmunology
November 2013

DNAJC13 mutations in Parkinson disease.

Human Molecular Genetics
November 2013

Identification of FUS p.R377W in essential tremor.

European Journal of Neurology
July 2013

VPS35 mutations in Parkinson disease.(Link)

American Journal of Human Genetics
July 2011

Translation initiator EIF4G1 mutations in familial Parkinson disease.(Link)

American Journal of Human Genetics
September 2011

DCTN1 mutations in Perry syndrome.(Link)

Nature Genetics
February 2009

A genetic risk factor for periodic limb movements in sleep.(Link)

New England Journal of Medicine
January 2008


  1. English

    Full professional proficiency
  2. Spanish

    Native or bilingual proficiency
  3. Catalan

    Native or bilingual proficiency


Universitat de Barcelona

BSc, Biology
1995 – 1999