TRPS1

And at the time, we were studying a very rare human syndrome called Ambrose syndrome that's predominantly characterized by excessive hair overgrowth or hypertrichosis.

So using forward genetics, we were able to find that the phenotype arose due to genetic rearrangements or changes in the DNA around a gene encoding a transcription factor called TRPS1 that significantly reduced its expression.

So then using the power of the mouse model and using reverse genetics, we were able to essentially make a similar model in the mouse.

And we found that these mice had excessive hair around the ears and the muzzle.

But again, with the power of the mouse model, we could then use those mice to determine when and where this transcription factor, TRPS1, was active during hair follicle development.

So I'll say that during my PhD, I met several hypertrichosis patients, and I was really struck by the fact that they had similar facial features.

And it turns out that the same cells that give rise to the mesenchymal compartment of the hair follicle where TRPS-1 is expressed, those neural crest cells that I mentioned, also give rise to the bone and cartilage of the facial skeleton.

Yeah.