Tonight I watched the London Calling session on “Rapid nephrogenomics for thrombotic microangiopathies.” Laurent Mesnard from Sorbonne University in France was the presenter. They defined thrombotic microangiopathies (TMA) as a group of rare diseases with similar manifestations. Early diagnosis of TMA is essential. It currently takes about three days to screen. The Regulator of Complement Activation gene cluster is of interest. The alterations are difficult to detect with short read technlology. Mesnard and team published a scheme for genetic testing and has now used nanopore to reduce the time. Mesnard explained that now with PromethION flow cells they have sensitivity and throughput within 24-hours of sequencing. The target coverage is 80x. Now, analysis id powered by external computing resources and takes one or two days. Mesnard concluded by emphasizing the significant time frame improvements and clinical exmples of how the approach has been used.
