ALS: Demystifying the Role of Genetics in Pathogenesis, Treatment

The ice bucket challenge may have been this year’s ALS headline story, but research is progressing on gene research.

With Cynthia Bodkin, MD

What do you think 2015 has in store for ALS care? Are there any studies you’re looking forward to, or think there are any new trends in patient management that might emerge?

A new trend in clinical trials will be more focus on the genetics of ALS. Studies will more likely try to subgroup ALS patients by genetics in order to see if there is a subgroup of responders that are being missed when lumped with all ALS patients.

More and more evidence points to ALS being a genetic disorder. We know that 10 percent of ALS is clearly genetic. However there is some evidence that some sporadic cases of ALS will end up being genetic as well. If we know the gene that causes a patients ALS, we will be more likely to find a specific treatment.

Also it is likely that the different causes of ALS will require different treatments. This may be one reason why current drug trials are failing. ALS is likely caused by a number of different genes/diseases, which will likely require different treatments. For example, what works for a patient with SOD mutation may be very different than a patient with C9orf72.

Cynthia Bodkin, MD is Assistant Professor of Clinical Neurology at Indiana University.


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Launched in 2002, Practical Neurology is a publication uniquely dedicated to presenting current approaches to patient management, synthesis of emerging research and data, and analysis of industry news with a goal to facilitate practical application and improved clinical practice for all neurologists. Our straightforward articles give neurologists tools they can immediately put into practice.