MS Genetics Research Hits Home

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.

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Claude Schofield, PhD

Dr. Claude Schofield is Director of Discovery Research at the National MS Society. He began his career as a biomedical researcher, focused on the nervous system. He research has been published in Journal of Neuroscience, Proceedings of the National Academies of Science, and Neural Development.

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  • MS SUFFERER   Sep 14, 2014 3:25 PM
    Dehydration is the key to RELIEVING MS, what liquids can I drink that will keep my body temperature cool at all times and wake up my brain and not have this serious mind fog and heavy feeling in my legs and arms that makes me feel like a 100 year old sarcophagus. Thank you.
  • Rick Dahn   Sep 14, 2014 5:04 PM
    I'm curious about the affect of dioxin . In the case of Agent Orange.
  • Duncan Patrick.   Sep 15, 2014 9:28 AM
    I have always wondered about the chemicals I worked with in the course of my job as a joiner until I gave up work to look after my son (my wife continued to work as she has a good job.The active ingredient in all was Lindane.That was 25yrs ago .I was diagnosed with PPMS 20 years ago!
  • Celeste   Sep 16, 2014 3:56 AM
    This information definately confirmed a decision to follow through with the donation of my body to research. A gift for generations to come.
  • Celeste   Sep 16, 2014 3:59 AM
    This information definately confirmed a decision to follow through with the donation of my body to research. A gift for generations to come.
  • Alex   Sep 16, 2014 7:59 PM
    I was always told it wasn't genetic so wasn't all that worried about getting ME since my Mom has it. I was diagnosed 4 years ago at the age of 44 with RRMS. My Mom was diagnosed when she was 40, over 35 years ago. I have 3 brothers all over the age of 45 and none of them have it. Curious if there's a study we can get into.
  • Heather   Sep 17, 2014 3:48 AM
    I was a sun bunny growing up so I'm sure there was no lack of Vitamin D in my diet. I was dx'd at 41year old, 19 years ago and I'm leaving my body to MonSter research or maybe I wont have to wait that long
  • Dee Dee   Sep 18, 2014 6:26 AM
    i am a firm believer that MS is genetic! I am convinced that my mother had MS because i see so many of her "symptoms" in myself. The symptoms my mother had became overshadowed by TIA's - mini strokes. I have had MS since my early 30's - at least - but was not diagnosed until i was 62 years old, Therefore my family does not accept my suggestion she had MS symptoms before her mini-strokes started. Everyday, I recognize things in myself that my mother did.however, we will never know since my mother passed away from severe dementia 15 years ago.
  • Pamela Murphy   Sep 18, 2014 3:26 PM
    My mom had MS and lately I have been having trouble with pain in my legs. What are the chances of me getting/having MS with my mom having the disease?
  • Ann   Sep 18, 2014 4:55 PM
    My mom has severe dementia, never ate right, had a lot of stress, and cannot walk, eat, or remember things, she is 80. I have always had a terrible heat and cold intolerance. I was raised poor, didn't good, much stress, and my dad sprayed inside as well as outside with toxic bug spray. I used to go pitch black with blindness, but my vision woul come back. I had mono, step so much when young as well as until my twenties. So, I have everything in the "pot" I has 3 lesions at age 42, well after symptoms began, now I have over 300 as of last year. I have trouble thinking but I am a " push it to the limit person so I keep on going and am on my last drug, tysabri. It has been the only drug that slowed the lesions down. I am due for my-6-mo. MRI tomorrow. I wonder how many lesions I have acquired since 6-months ago. I see my doctor too! I think stem cell is the wave of the future for MS. My child had a unrelated cord blood stem cell transplant for a metabolic genetic disorder and is doing really god for a terminal disorder. We need to fool this disease into stopping attackng our mylen!
  • Dennis Coerber   Sep 22, 2014 7:28 PM
    Genetics surely plays a role in MS. All three siblings in my family were affected. My fraternal twin brother had PPMS, diagnosed at age 19, and died at age 60. My sister had SPMS diagnosed at age 45 and died at age 67. I have had RRMS for 27 years ago, but am fortunate to have a somewhat mild course of symptoms that have remained relatively stable over the years.

    We grew up in the desert of Southern CA which is not considered a high-incidence part of the country as are the further north latitudes. I think genetics is the way to go and hope the great research continues.
  • Sue Edwards   Sep 25, 2014 1:25 AM
    My husband and one daughter have MS and I think there could well be environmental and or viral triggers but I also think that stress could also play a role in lowering our resistance to the start and to the progression of many diseases including MS.
  • laurencares  Nov 27, 2014 4:08 AM
    My mother has Ms and is leaving on jan 6 to be in a trial study by Dr. Richard Burt in Chicago. Please take a look at my link. And help us fight for the cure.