Using RNA-seq to Study a Splicing-based Human Disease in a Model Organism | GenomeWeb
May 28, 2015
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Using RNA-seq to Study a Splicing-based Human Disease in a Model Organism


Principal Investigator at Bellvitge Institut for Biomedical Research, Barcelona, Spain 

Bioinformatics Products Strategist & Manager, PerkinElmer, Madrid, Spain

This online seminar demonstrates how RNA-seq analysis in a model organism can provide insights into human disease. 

In this webinar, Dr. Julian Ceron of the Bellvitge Institut for Biomedical Research in Barcelona, Spain, presents a system to model retinitis pigmentosa in the nematode Caenorhabditis elegans using RNA sequencing data. 

Retinitis pigmentosa (RP) is a rare degenerative disease that causes progressive blindness. Among the 50 genes that have been associated with RP, Dr. Ceron's team has studied six that are transmitted from parents to their children in a dominant manner. These six genes codify for well-conserved proteins that are involved in RNA splicing. 

Despite the more than 9,000 published scientific studies about RP, there is still no efficient treatment to avoid the blindness caused by this disease. This may be due to the diversity of genes that can be involved, so it's possible that a personalized medicine approach that identifies the mutation for each patient might be the best strategy to use. The genes that Dr. Ceron and colleagues are studying share the same cellular function, so it is highly possible that they would also share a similar treatment. 

Dr. Ceron presents the system his team has developed to model RP in C. elegans and will discuss how RNA-seq analysis with OmicsOffice guided his research to identify a novel cellular mechanism that can explain why the pathogenesis caused by excessive apoptosis takes place specifically in the retina of RP patients. 

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