Bruker Wins NanoString Auction

NanoString declaring bankruptcy on the eve of 2024's edition of AGBT was a shock to many at the meeting and then there was confusion: would one of the sponsors have a dark booth? The aggressive 10X Genomics legal strategy that forced the bankruptcy raised a degree of polite ire. But NanoString marketing carried on and CSO Joe Beecham delivered a fiery speech saying "we're not going anywhere". Then an investment firm, Patient Square Capital, appeared to be the front runner for acquiring the assets, with speculation they would combine NanoString with their other spatial omics portfolio company, Resolve Biosciences.  But last week, as the genomics world was still processing PacBio's turmoil, news broke that Bruker had significantly outbid Patient Square - $392.6M vs $220M.  So Bruker takes NanoString home - and I gives me an entree to float an ontology of spatial technologies I've been fermenting, as Bruker will now have instruments in the four major spatial approaches.  And 10X now has a more formidable opponent in the ongoing patent wars.

PacBio Plummets

PacBio announced preliminary earnings yesterday, and the nearly immediate result was a 50% plunge in their share price.  Along with the earnings, the company announced significant cost cutting.  The details of those cuts were not made available, but some clever tea leave parsers noted a significant omission from what the company said it would continue.  The ASeq Discord channel on PacBio absolutely blew up, with opinions ranging from PacBio is in a death spiral to PacBio must be for sale, with significant numbers of "Christian Henry won't be CEO by year's end".  

Thoughts on RNU4-2 Mutation Paper

A new preprint based on Genomics UK data has identified a set of single base insertion mutations (predominantly a specific A insertion)  in a spliceosomal RNA which is responsible for about 0.5% of previously undiagnosed genetic cases of syndromic neurodevelopmental disorders . That's a remarkably high frequency mutation which has gone unnoticed to date, but the fact it was hiding in a non-protein-coding RNA (a spliceosome component called RNU4-2) had much to do with that - this gene won't be in any exome panels. The mutation always appears to be de novo and therefore the pathogenic phenotype is dominant.   I'd like to write down a few other thoughts - mostly in the form of questions --  with the caveat that I've never worked on a rare disease project and to describe me as a detached armchair voyeur of the field would be far too generous.