One of the main challenges in many neurological and meurodegenerative disorders, such as Parkinson's disease (PD), Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS) and others, is to diagnose the disease in an earlier stage. These diseases are currently being diagnosed when much of the brain damage, which is irreversible, had already occur. Thus, it is crucial to develop methods for earlier identification of these patients, so that once treatment is available, it could be given at a much earlier stage to prevent the brain damage.

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Furthermore, the genetic heterogeneity of these patient populations likely affect the results of clinical trials. Randomization alone is insufficient to make sure that the treatment and the placebo groups in clinical trials are genetically matched. As a result, the progression of the disease can be faster in one of the groups due to their genetic background, which could have been prevented if genetic stratification would have been performed. We have demonstrated this in a study performed together with collaborators from the NIH. See publication here (Leonard et al. Journal of Medical Genetics 2019).

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In the future, we aim to perform a large scale genetic screening of healthy populations that are being prospectively followed up, and to map the genetic factors that are associated with progression to different neurological conditions. We will also continue to study the effects of genetics on clinical trials results, and work together with pharma companies and trial managers to increase the use of genetic stratification in clinical trials.