Around 10 000 Orphan diseases

Science
#1

According to this


there are around 10 000 rare diseases and only a fraction of them - around 500 can be cured/treated.

Even if the numbers are not correct, generally, the negative prospects of treating rare diseases are well known. In general, there is not much hope for those suffering from an orphan disease.

Even if we find out one day, what went wrong in our bodies on a cellular level, really, we will just become other people suffering from officially recognized rare disease with no treatment, won´t we…? Purely based on these statistics.

I am not trying to spread negative spirit here, but that is the conclusion my rational mind has come to.

Or is there any reason to believe, that our case would be any different from other orphan diseases without treatment? In terms of how difficult it would be to treat PFS.

And another question. Generally, why is that, there are so many diseases without any treatment? Sure, money, but besides that is that because for the vast majority of these rare diseases the real cause has not yet been discovered, or the cause is known, but no treatment has been invented?

Thank you.

#2

There are people out there working to speed up the way we diagnose and treat rare diseases. Check out this podcast episode - https://a16z.com/2021/03/23/https-bio-eats-world-simplecast-com-episodes-euan-ashley-rare-disease-genome-odyssey/

2 Likes
#3

Thank you for that link.

Though it was hard for me to understand everything, I must say hearing about the advent of these exciting diagnostic tools lifted my mood.

Still, it always feels like commercial use of technologies things like Crispr, base editing, personalized medicine are many years away.

#4

Imo treatment will be a synthesis of both personalised medicine (gene editing, CRISPR, epigenetic treatment) alongside more orthodox medicine, i.e. new types of antidepressant (Sage-217, new types of dopaminergic drugs etc.) as well as structural changes (pertaining to sexual issues such as ED, a penis implant would be used)

I reckon all this will certainly be available within the next decade if not before, though of course depending on the severity of the case, or how long a person has already had the case, this will still sound pretty disastrous.

Edit: I should add that to an extent some symptoms will be psychogenic, to varying degrees, so also going to therapy should also be part of a multifaceted cure.