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by beams_of_light 1583 days ago
>We were able to deliver these treatments to the children in our ongoing clinical trials thanks only to funding from a generous family whose own child is a participant.

Wish this were not the case.

4 comments

I think it's okay to express this, but would be more valuable if you added more to the conversation e.g. what you positively desire.
Rare diseases need some public funding. Not only for ethical reasons, but we may also find out very nontrivial things about our own biology this way.
We probably shouldn't put the main focus on rare disease but on genetic manipulation in general. It would be much more valuable to be able to cure arbitrary genetic defects than just the ones that are somewhere between uncommon and extant.
Not only for ethical reasons, but we may also find out very nontrivial things about our own biology this way.

If it's looked at through the right lens, yes. I'm not sure if genetic research is actually the optimal means to find such takeaways though.

I mean, this has definitely happened in the past; study of various rare genetic diseases has elucidated and illuminated the processes by which diseases occur at a molecular level, and often have utility far outside the original rare disease.

As to whether that means it's an effective payoff if you put more money in rare diseases (and therefore less into non-rare diseases), I can't say, so instead, I have a portfolio with a small but not tiny amount for the collection of all rare diseases.

They have some public funding.
I expect most of the cost is regulatory.

Lighter regulation around rare "small market" diseases might save a lot of lives. And money.

> Lighter regulation around rare "small market" diseases might save a lot of lives. And money.

Orphan drugs for rare diseases are already subject to less regulation.

It's weird to say 'only' since I assume that a lot more went into this effort other than funding. There are a lot of initiatives that have a lot of funding, but little success. Either way, this result is certainly better than nothing, or waiting years/decades for public funding.
'Only' implies that the funding was necessary, not that the funding was fully responsible. Also consider that 'only' was said by the researchers. From their pov the effort is a given, because that is what they control, while the funding is an anomalous outside factor.
Wish governments would spare funding to these research efforts.
It’s just tough because resources are not unlimited. You’ll save many more lives focusing on new antibiotics and then you will on Tay-Sachs. I don’t think there’s enough researchers in the world to focus on every single rare disease.