141–150 of 212 posts
Glp and G9a are ubiquitous as they are import epigenetic regulators (histone methyltransferases). Sounds difficult to work on, and hard to supplement if they play an important role in many cell types
I work at a medium-sized pharmaceutical company as a computational biologist. Diseases like KS sometimes come up as potential repurposing targets (or novel drug targets), but we get a LOT of pushback from finance / leadership because we're unlikely to turn a profit working on ultra-rare indications. It is a deeply frustrating position to be in, wanting to work on these rare diseases and help this rarified patient pop…
If you could do research that will save 10 lives, vs research that will save 1 life, which would you choose? I understand that there are no easy choices here, and having to make a choice will always be heartbreaking. May I suggest contacting MacKenzie Scott (Jeff Bezos' ex) who seems to be looking for worthwhile endeavors to finance. (I have no connection to Ms Scott, I just read articles about her charitable activit…
The diseases like what OP is dealing with are the ones that are going to advance science for all of us. That’s where gene therapies are going to be applied first which will pave the path for more mass-market treatments.
Earlier quoted context omitted.
> If you could do research that will save 10 lives, vs research that will save 1 life, which would you choose? Both. We're not even close to our limits on research capacity. If we actually were at the limits of research capacity, and we were actually forced to make decisions between livesaving treatments to research where we couldn't do both without sacrificing something else that saves lives, then yes, of course, ch…
> Both. We're not even close to our limits on research capacity. Really? From the outside it seems to me like we are beyond our limits on research capacity. The progress seems to be slowing down everywhere while the price per discovery of a new drug skyrockets with many having rather disappointing efficacy (high NNTs).
Are you involved with idefine? It seems like the most natural course. Why create a separate entity and voice instead of partnering / volunteering for one that is already establishing? I imagine if you reach out and want to find ways to help / volunteer they would be excited to hear from you and to find a way to work together (most non-profits like this are...)
I saw an article on here about a billionaire in Florida who makes donations. Perhaps you can find out who signed The Giving Pledge, what their philanthropic organizations are, and contact them. This should require the least capital. If one does donate, it could be a sizable amount.
Reach out to rtw’s rare disease program They are a biotech hedge fund that has a non-profit team funding rare disease work. There should be a form on their website
Let's discuss this idea on Cure Odyssey tomorrow!
You might want to re-examine prior assumptions: there are in fact companies very interested in pursuing rare diseases. This article[1] discusses why: they can be highly lucrative opportunities. Despite there being very few patients, if any treatment at all exists then many national health care systems or insurance companies are forced to pay for it. That article is ten years old but a basic web search for "world's mo…
Total layman question - can we get mRNA injection causing production of required protein in situations like this?