Genetics of disease severity in multiple sclerosis, Alzheimer’s disease, and Huntington’s disease: rejuvenating genome-wide association studies

@inproceedings{Hrastelj2017GeneticsOD,
  title={Genetics of disease severity in multiple sclerosis, Alzheimer’s disease, and Huntington’s disease: rejuvenating genome-wide association studies},
  author={James Hrastelj and Neil Robertson},
  booktitle={Journal of Neurology},
  year={2017}
}
Between 30 and 50% of MS risk is genetic, but there has been limited progress in identifying genetic variants that affect disease severity or outcome. In this month’s first paper, Sadnovick et al. report results of an ‘extremes of outcome’ analysis of 2016 patients with MS to identify genetic variants that influence age at onset (AAO) and rate of disability accumulation. Fifty patients at each end of the disability spectrum underwent exome sequencing. This approach detected 38 missense or… CONTINUE READING

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