Researchers discover first genetic marker for severity of Multiple Sclerosis

researchers have discovered a gene that may explain why some people with the autoimmune disease multiple sclerosis get sicker faster so globally about 3 million people live with multiple sclerosis also known as Ms but the real number may be higher women are more likely to develop Ms than men when diagnosed the immune system essentially attacks itself it attacks the central nervous system causing symptoms that range from

numbness to disability Ms is not an inherited disease and doctors have struggled to understand why some cases progress faster than others this latest study combed through 13 000 patients DNA it found a gene that is linked to the onset of severe disability Bruce Bebo is the Executive Vice President of research for the national Multiple Sclerosis Society in the United States but was not involved in this

study he said it was the first of its kind and it could lead to better treatments up to now the genetic underpinnings of the severity of disease have eluded us and this is the first study to show a genetic underpinning or genetic association with the severity of Ms and that's why this is a big deal also help us in combination with clinical observations with demographic observations

and and layering on some genetic information could perhaps help predict what course of disease a person is going to have early on in the course of disease and could really help this isn't uh you know could help Advance Precision or personalized approach to treatment Sergio baranzini is a neurology professor at the University of California San Francisco you're the lead author of the study and you're joining

us live from Rome today we appreciate your time I I did my best to explain what the study found you're going to do a better job though so help us understand let's go through it slowly please what did your study find well thank you for having me um this is um in fact the first study showing that there is a genetic predisposition to determining the course

of the disease for a long time we've known that Ms is genetically determined and some people are at higher risk of developing the disease than others but eventually once someone gets diagnosed with the disease the disease presents in a very heterogeneous fashion some patients May evolve very quickly and after five years they may be wheelchair bound while other patients may be still running marathons 10 years

after being diagnosed with a disease but this study was trying to find out is whether that heterogeneity across patients is genetically determined and the answer seems to be yes so why the disease gets evolves faster in some patients than in others what's the benefit of identifying this Gene now that you have found it well for once um know that analysis I helps identifying the pathogenesis of

the disease so the mechanisms behind what's going wrong in the disease in in these individuals and this helps enormously to develop drugs to try to counteract the effects so with all the work that uh our group together with the international Ms genetics Consortium had done over the past 20 years helped identify more than 200 genetic associations with susceptibility to Ms and that helped the pharmaceutical industry

to develop more than 15 approved drugs now that treat the first phase of the disease the inflammatory phase now this is the first study identifying an a genetic predisposition to faster disease cores which will help again develop drugs to these unmet need which is the issue of progression okay let's address the how like how researchers found this can you talk to us specifically about the genome-wide

analysis and what that is yes in a genome-wide Association study what we do is we collect DNA from the blood of thousands and thousands of patients and with each DNA sample we interrogate about 7 million genetic markers these are seven million genetic changes in the DNA sequence that may uh be linked to a specific outcome and we look at them one by one asking whether this

this variance all right Sergio baranzini neurology professor at the University of California San Francisco again you're the lead author of this study I incorrectly said earlier that you were joining us from Rome but you're in San Francisco thank you so much for your time today I'm actually in Rome oh okay well incorrectly said that you were in San Francisco I was right the first time it

doesn't matter we so much appreciate that you took the time to speak to us today thank you you're very welcome thank you