Related Experiment Video
Updated: Jun 6, 2026
12:43
Genetic and Biochemical Approaches for In Vivo and In Vitro Assessment of Protein Oligomerization: The Ryanodine Receptor Case Study
Published on: July 27, 2016
11.6K
[From gene to cell: Functional validation of RYR1 variants]
Robin Reynaud Dulaurier1, Julie Brocard1, John Rendu2
1Université Grenoble Alpes, Inserm U1216, Grenoble Institut Neurosciences, Grenoble, France.
Medecine Sciences : M/S
|November 18, 2024
Summary
Genetic screening for rare diseases often hits a roadblock with variants of unknown significance (VUS). This project develops an AI-driven pipeline to accurately classify RYR1 gene variants, improving diagnosis for neuromuscular conditions.
Area of Science:
- Genetics
- Bioinformatics
- Structural Biology
Context:
- Genetic screening identifies causative genes in only 50% of rare disease patients.
- Variants of unknown significance (VUS) present a major diagnostic challenge.
- The RYR1 gene is frequently implicated in neuromuscular diseases, with many variants classified as VUS.
Purpose:
- To develop an efficient classification pipeline for RYR1 variants.
- To integrate artificial intelligence, structural biology, and functional analyses.
- To enhance the genetic diagnosis of RYR1-related diseases.
Summary:
- The project focuses on classifying variants of unknown significance (VUS) in the RYR1 gene.
- It leverages a multi-faceted approach combining AI, structural data, and functional assays.
- This aims to resolve diagnostic deadlocks in RYR1-related neuromuscular disorders.
Impact:
- Improved diagnostic accuracy for rare neuromuscular diseases.
- Accelerated identification of pathogenic RYR1 variants.
- Enhanced understanding of RYR1 gene function and its role in disease.
Related Concept Videos
02:32Exon Recombination
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Exon shuffling follows “splice frame rules.” Each exon has three reading...
01:27Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...