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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA.  Marilyn Kozak discovered that the sequence RCCAUGG (where R...
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Related Experiment Video

Updated: May 29, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Translational Research on Polygenic Risk Scores in Common Neurodegenerative Diseases - A Scoping Review Protocol.

Mojca Čižek Sajko1, Jana Suklan2, Džanan Osmanović3

  • 1Clinical Institute for Genomic Medicine, University Medical Centre Ljubljana, Slovenia. mojca.cizek.sajko@kclj.si.

Acta Medica Academica
|February 5, 2025
PubMed
Summary

This scoping review protocol outlines the process for evaluating polygenic risk scores (PRS) in neurodegenerative diseases. It details the search, extraction, and analysis methods to understand PRS translational research status.

Keywords:
Evidence GapsGenetic Risk ScoreNervous System Diseases

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Area of Science:

  • Neuroscience
  • Genetics
  • Medical Research

Background:

  • Polygenic risk scores (PRS) are increasingly utilized in genetic research.
  • Common neurodegenerative diseases pose significant public health challenges.
  • Translational research aims to bridge the gap between basic science and clinical application.

Purpose of the Study:

  • To describe the protocol for a scoping review on polygenic risk scores (PRS).
  • To investigate the application of PRS in common neurodegenerative diseases.
  • To map the current landscape of translational research involving PRS in this field.

Main Methods:

  • Scoping review methodology will be employed.
  • Inclusion criteria focus on PRS in Alzheimer's disease, Parkinson's disease, Multiple Sclerosis, and ALS.
  • Evidence search will include peer-reviewed and grey literature, with data extracted by two independent reviewers.

Main Results:

  • The review will descriptively present findings based on research questions.
  • Summarized data will illustrate the current status of PRS translational research.
  • The scope of PRS application in neurodegenerative disease research will be delineated.

Conclusions:

  • The scoping review will provide a comprehensive overview of PRS in neurodegenerative diseases.
  • Findings will highlight the progress and potential of PRS in translational research.
  • This work will inform future research and clinical implementation strategies.