Aquesta troballa Ã©s del que mÃ©s orgullÃ³s em sento perquÃ¨ Ã©s el primer gen causant d'esclerosi mÃºltiple i espero que tingui una Ã mplia repercussiÃ³ en les opcions de tractaments futurs per als pacients ", assegura VilariÃ±o-GÃ¼ell
Assistant Professor and Canada Research Chair in Molecular Characterization of Neurological Diseases
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.
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
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 www.ngs.med.ubc.ca
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