Journal of Clinical Research

Worldwide Clinical Trials, Research Triangle park, North Carolina, United States

Publications

• Review Article   
  Patient Segmentation in ALS Studies
  Author(s): Michael F Murphy*, Erin M Griner, William L Slone, Andrew Kuhlman and Tomislav Babic
  
  Does genotypic vs. phenotypic segmentation make sense in the context of an amyotrophic lateral sclerosis (ALS) study? It’s a provocative question, but one that warrants consideration. Research into the nature of ALS points to genetic mutations, often taking the form of miss aggregated or misfolded proteins. More than 20 genes have been causally linked to ALS. Four genetic mutations are common; the others are relatively rare . Certain genetic mutations appear to run in families but the same mutations can also be found in sporadic (i.e., non-familial) cases. These mutations have formed the basis for past patient segmentation efforts but there is reason to question whether such segmentation efforts have any relevance to the presentation of ALS itself. Do these genetic mutations actually express different phenotypes? Do they play any role in the sign, symptoms, o.. Read More»
  DOI: 10.37421/2795-6172.2021.5.129

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