People affected by MS sometimes ask me: “It’s great that they found another gene that is linked to MS, but what does it mean for me?” Well, the genetics research I’ve heard about at this week’s ACTRIMS-ECTRIMS meeting has given me great answers.
Dr. David Hafler (Yale University) launched the discussion when he delivered the keynote lecture during the opening ceremony. Dr. Hafler and others founded the International MS Genetics Consortium, a team that has turned MS genetics on its ear. “Virtually every MS geneticist on earth is working together,” he said. Dr. Hafler spoke eloquently about where we are in the search for MS genes. He noted that there will likely be hundreds of MS risk genes uncovered. “Each by itself has a small effect on disease risk; but each interacts with the environment,” he noted. “These are not bad genes, and it’s not a bad environment – it’s a bad interaction.” (Read the complete abstract.)
Dr. Philip De Jager (Harvard) presented the Consortium’s latest findings – a replication of its pivotal genetics study published in 2013. Gene research is grueling – data from thousands of people with and without MS need to be gathered in massive numbers, and then all those data must be replicated. Dr. De Jager announced that after studies involving over 80,000 people, they now have identified more than 159 genetic variations related to MS, and more importantly, have begun to identify the specific immune cells and proteins involved, and how much weight each one carries. “We have created a reference map of MS susceptibility,” said Dr. De Jager. “Now we turn to the task of understanding the biology of MS susceptibility.” (Read the complete abstract.)
Dr. Noriko Isobe (University of California, San Francisco) and the Consortium reported on how genes differ between African Americans and Caucasians with MS, following up on a 2013 study. Eight novel genes were identified among African Americans with MS that were not uncovered in the larger gene scans. We’ve seen that the experience of African Americans with MS is different from that of Caucasians, and this study is putting us on the road to finding out why. (Read the complete abstract.)
Dr. Jennifer Graves and the Network of Pediatric MS Centers reported on findings from an ongoing study of what triggers MS in kids. They showed that vitamin D status, which has been linked to MS risk, was associated with MS relapses only if kids have a specific immune gene. The original study included 185 kids, and this group is collecting such data on hundreds more. Trials of vitamin D supplementation are ongoing, so I’m hopeful that such findings will help to figure out exactly who maybe helped most by this strategy. (Read the complete abstract.)
Taking a big step toward translating all of this gene data, Dr. Nikolaos Patsopoulos and colleagues in Boston examined which proteins interact with the 159 genes that have been pinpointed by the Consortium. Then they cross-linked this information with the “druggable genome” – a data set on how existing therapeutics interact with the genome. They identified more than 2,000 possible therapeutic interactions. What a fantastic place to start mining genetic information for MS treatment strategies. (Read the complete abstract.)
Genetics research is a huge part of our efforts to end MS forever, because by understanding factors that may cause MS, we’re better able to target research on solutions to those specific factors. This meeting has given me a lot of hope that we are on the right path to doing just that.