Richard Sever from Cold Spring Harbour chats to Molecular Case Studies Editor-in-Chief Elaine Mardis at the CSH Targeting Cancer Symposium, about what an n=1 study is, and why they are important for precision medicine. 

We had our own conversation with Elaine back in March last year, shortly after the launch of Molecular Case Studies, which you can read in full in issue 3 of Front Line Genomics magazine.

“The journal was an essential concept that I had come to, seeing how much individual sequencing was going on in so many places for different reasons, and knowing that a mechanism to communicate “N of 1” studies was going to be vital to helping these different sites stay abreast of what other sites were generating, to helping everyone understand new variants that were being identified, treated, and used in diagnosis. I brought the idea to several entities in the scientific publishing business, and the folks at CSHL Press did some investigational work and came back to me with the proposal to start the journal. This is not a sequencing-only journal, as we encourage other reports that utilize “omic” data to solve patient diagnoses or to uncover new treatments, etc.”

More on these topics