KIF1A

Susanna is now 12 or 13.

She has a KIF1A mutation, a mutation in a gene that makes a little adapter to a motor protein, and that's caused her to have a terrible syndrome, severe seizures, terrible constant pain.

You can imagine having a child seize and cry constantly because they're in total pain.

That's not a life you want to even try to imagine.

very often, not every time, but very often, we get patients who can use the same exact ASO, even though they have a gene that is essential for life and are now a little selective.

Our first two KIF1A patients had totally different pathogenic mutations, but they both had the same single nucleotide variant, so we could use the same ASO for them.

Gondola Bio is a clinical stage pharmaceutical company developing breakthrough therapeutics for patients living with genetic diseases, focused on translating research and development advances into transformative medicines for patients.

Gondola Bio is a proud partner of the NLorem Foundation and its community.

And then that was kind of like one thing where it's like, oh, maybe this was meant to be.

So that almost gave me a little bit more strength to feel stronger about things related to Ro and Kif1A and having that be our life, if that makes sense.

I remember when we did like a CVI or... whatever, like the amniocentesis, because we wanted to check that the baby didn't have KIF1A or whatever else and getting the results back that, you know, she didn't.

And it was a girl.

And that gave me even more strength.