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Researcher profile: Dr. Carles Vilarino-Guell

Molecular geneticist Dr. Carles Vilarino-Guell has played an important role in the identification of the genes that carry mutations responsible for the onset of neurological diseases such as Parkinson’s and Multiple Sclerosis.

“I have been fortunate enough to be involved in the discovery of VPS35 and DNAJC13 for Parkinson’s disease, DCTN1 in Perry syndrome, MESI1 in restless legs syndrome and more recently NR1H3 for multiple sclerosis,” says Dr. Vilarino-Guell. “These genes are responsible for disease in only a small fraction of patients, but provide invaluable clues for the understanding of the biological mechanisms causing the disease.”

Dr. Vilarino-Guell’s work focuses on the identification of the genes and mutations that trigger the onset of neurological diseases. He joined the Djavad Mowafaghian Centre for Brain Health for the collaborative opportunities to enrich his research, and for the resources the Centre provides – including world-class clinical care, access to pioneers in brain imaging, and state-of-the-art facilities for molecular analysis.

In the short term, Dr. Vilarino-Guell’s research aims to improve clinical diagnoses and symptom management to alleviate the burden on and suffering of patients and families. Longer term, he hopes to see his work lead to new therapeutic strategies and better drug treatments for patients with debilitating neurological diseases.

For more information about Dr. Vilarino-Guell, his research, and a list of recent publications, visit his website at msgeneticslab.med.ubc.ca