Often Missed, Rare Disease Diagnosis Are Now Detected by New RNA Sequencing Platform




   Researchers at the Children’s Hospital of Philadelphia (CHOP) have applied long-read RNA sequencing at scale to discover disease-causing variants in pediatric patients, helping to detect rare diseases. This versatile, low-cost sequencing tool is called STRIPE (Sequencing Targeted RNAs Identifies Pathogenic Events). Its novel diagnostic workflow allows researchers to identify diagnoses missed by other genetic tests and to discover unexpected molecular insights into previously identified pathogenic variants. 

   While exome and genome sequencing are most commonly used to identify genetic variants responsible for rare diseases, these tools have a diagnostic yield of only 20% to 50%, signifying that over half of the patients with suspected rare diseases are unable to receive a molecular diagnosis. However, with the implementation of long-read sequencing, scientists can observe how genetic variants disrupt function in real-time by capturing full-length RNA molecules end-to-end, showing complex errors in RNA processing that traditional fragmented sequencing methods miss. Ultimately, STRIPE is capable of improving the diagnosis of rare diseases and helping patients receive the targeted therapy needed.



Links:
https://pubmed.ncbi.nlm.nih.gov/41984969/

https://www.news-medical.net/news/20260415/New-RNA-sequencing-method-improves-rare-disease-diagnosis.aspx



Tags: #STRIPE #Long-read #RNA-sequencing #Diagnosis

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