Huntington's disease

There's definitely still the possibility of an immune link, and a lot of different immune factors, uh, could be relevant both to the environment or to genetic factors that we haven't identified as closely as the ones that were presented in this study.

I know that one of the genes you found, um, is also associated with Huntington's disease.

How do you interpret that? What do you make of that?

I think that the gene being associated with Huntington's is something that can help us learn about biological processes, but it doesn't tell us that individuals with fibromyalgia have an increased risk of developing Huntington's disease.

All it means is that some of the stuff that we've learned about how Huntington's works can now help us hopefully learn more about how fibromyalgia does as well.

You know, I know that fibromyalgia often requires some kind of trigger to, to come on, like a physical trauma or severe stress or an infection.

Does anything about your findings help explain why that is?

So I think one of the big opportunities that this study reveals is that there's actually a lot of known genes that, that are being presented as part of the findings that we had in this work.

[laughs] That's right.

Hannah says, "I have recently found out that I carry the Huntington's disease gene in the low penetrance range."

We should just expl- explain that of the genes that were, the 26 genes that emerged from this study, the Huntington's gene, uh, emerged as quite a common variant in people with fibromyalgia, and there might be something to that.

Sorry to interrupt, but that-

No. Explanation's needed.

Hannah says, "My mother also has the HD," or the Huntington's disease gene, "in the low penetrance range, and she has also been diagnosed with fibromyalgia.

Is there an increased likelihood of experiencing fibromyalgia when you have the HD gene, or if there is any link between fibromyalgia and the expression of the HD gene? I'm curious, if diagnosed with fibromyalgia like in my mom's case, is she more likely to develop symptoms of Huntington's disease, or is it just a coini- coincidence that is found along the same gene with no correlation between the two conditions?" And I think you talked about that in the story.

We did.

But yes, there's a flip side to this, that you start diagnosing people who then say, "Oh, but hang on a minute.

What are you going, like, what are you going to do about this?" Um, and with, when you think about this, what I found really interesting were the results coming out of the Huntington's field.

So, um, there, Sara Tabrizi at UCL, so Huntington's disease is ultimately a ge- a genetic disease, so we know what, we, we know that if you have an expansion repeat of long enough length, you will get Huntington's disease.

Uh, and up until now, diagnosis required you to start developing some sort of symptoms.

And there's been a push to effectively already, just based on the genetic data, um, have that, uh, define an earlier stage of Huntington's, which is pre-symptomatic Huntington's.

And what that ultimately means is that at that point the patients have a diagnosis, um, and then drug trials can start easier.

So, um, and if you think about, like, pushing new treatments out into the field, giving patients who don't have any symptoms an experimental medicine is, for very obvious reasons, really difficult to do in this country.

No, you know what? Listen, absolutely not.

I mean, if anybody had heard your story about the loss of your beautiful son, Rory, and, and sadly Della's situation with regards to Huntington's, and you being carer for both your sons, losing one last year-

Mm

... and potentially watching your other son deteriorate rapidly, that alone should have been enough.

She doesn't know about, um, Paudie having Friedreich's ataxia.

Um, look, she, she, the poor thing, you know, Della, she's in Dublin, and it's-

Huntington's

...

Two more from the agency, and the first one is strange.

Unicor filed its Huntington's gene therapy on Wednesday and asked for priority review.

The filing rests on an external control, and in February, the commissioner at the time said publicly that the same data showed no benefit.

The agency reversed on the same data set.

Like, we gotta have some compassion.

And Britt is such a self-centered character, right? Like, she expects everybody to understand why she does the bullshit that she has to do, right? She lives and dies on, I thought I had Huntington's, so anything I did while I thought I had Huntington's is justified.

And everybody needs to understand that.

But she is not willing to give that compassion back to anybody else.