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Related Concept Videos

EPS and iPS Cells in Disease Research01:21

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Embryonic and induced pluripotent stem cells are excellent models for disease research because of their ability to self-renew and differentiate into most cell types. Somatic cells from a patient are isolated and reprogrammed into induced pluripotent stem cells or iPSCs. These iPSCs are later differentiated into the desired cell type, which mirrors the diseased cell of the patient. In this way, disease models have been created for investigating diseases such as Down syndrome, type I diabetes,...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Related Experiment Video

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Disease phenotype prediction in multiple sclerosis.

Stephanie Herman1,2, Staffan Arvidsson McShane2, Christina Zjukovskaja3

  • 1Department of Medical Sciences, Clinical Chemistry, Uppsala University, Uppsala, Sweden.

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|June 19, 2023
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Summary
This summary is machine-generated.

Researchers identified cerebrospinal fluid biomarkers for early progressive multiple sclerosis (PMS) diagnosis. This method accurately predicted PMS in some patients and showed treatment effectiveness in a clinical trial.

Keywords:
Health technologyNeuroscience

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Area of Science:

  • Neuroscience
  • Biomarker Discovery

Background:

  • Progressive multiple sclerosis (PMS) diagnosis is currently retrospective.
  • There is a need for early diagnostic tools and biomarkers for PMS.

Purpose of the Study:

  • To develop a biomarker-based methodology for early diagnosis of progressive multiple sclerosis (PMS).
  • To assess the utility of this methodology in predicting PMS onset and monitoring treatment response.

Main Methods:

  • Analysis of cerebrospinal fluid (CSF) metabolites using machine learning.
  • Application of conformal prediction to enhance classification confidence.
  • Evaluation of the methodology in an independent cohort and a clinical trial for intrathecal rituximab treatment.

Main Results:

  • A panel of 15 CSF metabolites differentiated PMS from its preceding phenotype with high accuracy (AUC=0.93).
  • Conformal prediction enabled confident PMS identification, predicting 3 of 8 patients who developed PMS within three years.
  • The methodology indicated that 68% of patients on intrathecal rituximab treatment showed decreased similarity to the PMS phenotype after one year.

Conclusions:

  • Inclusion of confidence predictors provides valuable information beyond traditional machine learning for disease diagnosis and monitoring.
  • This biomarker approach shows promise for early PMS detection and evaluating treatment efficacy.