Clinical Genomics Uppsala supports benchmarking of novel method for ultrasensitive detection of cancer

2022-08-29

Clinical Genomics Uppsala has been involved in a project aiming at validating the so-called superRCA method for ultrasensitive mutation detection for clinical use. The work has now been published in Nature Communications. 

Cancer patients often respond well to initial treatment, but later suffer a relapse. Tumor-specific mutations in blood are excellent markers to monitor the course of the disease and the response to treatment. Sensitive methods are crucially important to promptly detect recurrence of disease in clinical practice. The study demonstrated that the superRCA method can detect mutations present in only one out of 100,000 cells.

The superRCA method has been developed by Dr Lei Chen in Professor Ulf Landegren’s research group at Uppsala University. Clinical Genomics (CG) Uppsala has performed the benchmarking against methods that are currently used in clinical practice and helped adapt the superRCA method for clinical use. The project has received funding as a SciLifeLab Technology Development Project as well as from Vinnova. The aim is to now make the technology broadly available through the start-up company Rarity Bioscience in Uppsala.

– The superRCA method is extremely sensitive and has great potential to be used in clinical applications. CG Uppsala, as well as the other nodes in our national CG platform, function as a testbed that supports testing and adaptation of innovative technologies towards clinical use. The support from SciLifeLab was crucial for initiating this project, says Lucia Cavelier, Clinical Molecular Geneticist and former Director of CG Uppsala, who has been responsible for the project from the SciLifeLab side and is a joint senior author of the publication.

In addition to Lucia Cavelier, Simone Weström and Tatjana Pandzic from CG Uppsala contributed to the study. CG Uppsala is currently working on establishing procedures to offer the superRCA method as a service for researchers.  

Publication

Ultra-sensitive monitoring of leukemia patients using superRCA mutation detection assays Lei Chen, Anna Eriksson, Simone Weström, Tatjana Pandzic, Sören Lehmann, Lucia Cavelier, Ulf Landegren. Nature Communication 2022, DOI: https://doi.org/10.1038/s41467-022-31397-y

Read more

News article from Uppsala University (in Swedish)
Clinical Genomics Uppsala receives SweLife grant for implementation of ultrasensitive mutation detection method
Clinical Genomics Uppsala contributes to new innovation for sensitive mutation detection

Last modified: 2024-02-23