University of California, USA: genetic analysis of high-resolution imaging

Genetic analysis of high-resolution imaging endophenotypes in MS progression

Principal Investigator: Sergio Baranzini, Ph.D.
Institution: University of California, San Francisco
Country: USA
Amount Awarded: €75,000

Screenings of the entire complement of common genes (genome) have identified more than 100 genes associated with a person’s susceptibility to MS. Yet a significant proportion of the genetic risk to MS remains to be explained, and to date gene links to disease course have been weak. This team has evidence suggesting that the varied courses of MS seen across people is in part instructed by genes, and the team is studying specific gene regions that associate with certain hallmarks of progression, such as the total area of nervous tissue damage, brain volume loss, and decline in the visual system. In this study, the team proposes to integrate gene profiling, brain MRI, optical coherence tomography (which captures images of nerve structures behind the eye), together with sophisticated bioinformatics, to uncover genetic “signatures” that are associated with different types of disease course among hundreds of people.

What does this mean for people living with progressive MS?

If this project successfully enables better understanding of how and why MS progresses in certain people, it would enable doctors to give more accurate prognoses to individuals, inform treatment decisions, and help stop progression in its tracks.


Project Update

Status: Extended through July 2016

The aim of this project was to identify genetic determinants that are associated with imaging phenotypes  (what can be seen through MRI, OCT etc.) including cortical thickness, glutamate and lesion distribution.  All data has been gathered and analysis of the data is underway.


Principal Investigator: Sergio Baranzini

Sergio Baranzini

Dr. Baranzini holds the Heidrich Friends and Family endowed chair in Neurology. He earned a degree in clinical biochemistry and PhD in human molecular genetics from the University of Buenos Aires, Argentina. Dr. Baranzini then moved to UCSF to specialize in the analysis of complex hereditary diseases, and focused his efforts on multiple sclerosis. His current research involves characterizing the activity of genes during different stages of MS, differential response to treatment, and disease progression. He collaborates with several interdisciplinary teams worldwide to integrate all the available knowledge obtained in different research domains in an approach known as systems biology. Dr. Baranzini has published his research on MS in several top-tier journals like Science, Nature, PNAS, J Immunol, and PLos Biol.

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