Translational Research on Polygenic Risk Scores in Common Neurodegenerative Diseases - A Scoping Review Protocol

Authors

  • Mojca Čižek Sajko Clinical Institute for Genomic Medicine, University Medical Centre Ljubljana, Slovenia
  • Jana Suklan National Institute for Health and Care Research (NIHR) HealthTech Research Centre (HRC) in Diagnostic and Technology Evaluation, Newcastle, United Kingdom; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, United Kingdom
  • Džanan Osmanović Faculty of Science and Mathematics, University of Tuzla, Bosnia and Herzegovina
  • Borut Peterlin Clinical Institute for Genomic Medicine, University Medical Centre Ljubljana, Slovenia

DOI:

https://doi.org/10.5644/ama2006-124.463

Keywords:

Evidence Gaps, Genetic Risk Score, Nervous System Diseases

Abstract

Objective. The purpose of this protocol is to clearly describe the process for the scoping review we plan to conduct on the topic
of polygenic risk scores (PRS) in common neurodegenerative diseases. We will present the review's objective, the strategy for
evidence search, the data extraction and analysis procedure, and how the results will be presented.

Methods. The inclusion criteria for the planned scoping review will focus on evidence sources that involve PRS applied to neurogenerative diseases such as Multiple sclerosis, Parkinson’s disease, Alzheimer’s disease, and Amyotrophic lateral sclerosis in any phase of translational research, from early development to clinical implementation. This includes its use in risk prediction, early diagnosis, prognosis, and treatment decision-making. The research questions were created based on the population, context, and concept framework. We will consider both peer-reviewed papers and grey literature published in English or German for inclusion. Two independent reviewers will search for information.

Conclusion. The findings from the scoping review will be presented descriptively and summarized according to the research questions to illustrate the current status of translational research on PRS in common
neurodegenerative diseases.

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Published

2024-12-26

How to Cite

Čižek Sajko, M., Suklan, J., Osmanović, D., & Peterlin, B. (2024). Translational Research on Polygenic Risk Scores in Common Neurodegenerative Diseases - A Scoping Review Protocol. Acta Medica Academica, 53(3). https://doi.org/10.5644/ama2006-124.463

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Section

Clinical Medicine

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