What was the key genetic finding and what makes it particularly compelling?

So as I mentioned, we knew that some connective tissue disorders were associated with CSF leaks, but no genes or spontaneous CSF leak had been identified.

Our genetic study really was the first to find the cause of spontaneous leaks that were not associated with an overt connective tissue disorder.

It led us to the realization that variants in a gene called fibrillin-2 can be associated with CSF leaks.

That was true in a reasonably large subset of the patients that we studied.

In my experience, in my clinical and research practice, finding a gene is the beginning, not the end.

It's the start of knowledge, but there's much more to do.

Can you just go back maybe for the emergence of the specific variants that you found in Fibrin-2 and how they differ from other disorders and macronutrients? and the mechanistic consequences of this.