Dr. Vilarino-Guell is a molecular geneticist by training, and has dedicated his career to unravel the genetic components of human diseases. HIs focus has been towards the identification of mutations leading to familial forms of neurological diseases, the analysis of complex epidemiological data in ethnically distinct populations, and to identify susceptibility variants acting as early precursors of disease development. At present, the main goal of his research program is to molecularly define the etiology of multiple sclerosis and to develop knowledge-based approaches to improve diagnostic accuracy and the generation of novel therapeutics aimed at treating the underlying molecular causes of disease.
Some of Vilarino-Guell’s career highlights include the identification of mutations in VPS35 and DNAJC13 for Parkinson’s disease, DCTN1 for Perry syndrome, MEIS1 for restless legs syndrome, and more recently the first pathogenic mutation for familial multiple sclerosis in NR1H3.
For an up-to-date list of publications by Dr. Vilarino-Guell, please see his lab’s website.
Year 2017
Type Scholar Award