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

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 most expensive drugs" will turn up a number of similar articles. Here's a more recent one[2] and it seems the prices have gone up, as have the size of the companies. As for how to find/approach such companies, that's a tougher question. It's a great boon for a company to be able to get Orphan Drug designation[3][4], for which KS may qualify. Hurdles are lower and it can help them bring that treatment to approval. One thought would be to examine company pipelines for drugs targeting this gene/pathway, even if it's for a different condition. For example, here's a press release[5] on a company with preclinical results for Sickle Cell Disease on a EHMT1 inhibitor (probably not what you need but at least related) and here's another[6] on a CDMO contracting to produce GLP protein for a client (it doesn't say who but at least indicates interest). Another thought would be to look for companies targeting related conditions because at least they have the expertise and may even have a candidate (failed or active!) that could provide some benefit. The idea of a repurposed drug search is a good one if you can find something still under patent since you'll need someone with deep pockets to reach approval. Note that these might not be pharmaceutical companies but biotechs instead, the distinction being small-molecule (chemical) vs. large-molecule (biologic), respectively, as it's much more difficult for others to make a generic copy of the latter. To that end, you might add monoclonal antibodies to your list of potential modalities. Sorry, I have no clue on the funding question. You mentioned several other foundations that had success; I'd suggest reaching out to them for ideas and strategy if you haven't already. I do know that some states have Life Science initiatives of various kinds which might offer grants/funding and may have associated incubators and whatnot where smaller players can "band together" to get shared access to equipment, lab space, expertise, etc. Unfortunately I don't have a link for that at hand but can try to dig up something if it's useful. [1] https://www.forbes.com/2010/02/19/expensive-drugs-cost-business-healthcare-rare-diseases.html https://www.forbes.com/2010/02/19/expensive-drugs-cost-busin... [2] https://healthcareglobal.com/top10/top-10-most-expensive-drugs-world https://healthcareglobal.com/top10/top-10-most-expensive-dru... [3] https://en.wikipedia.org/wiki/Orphan_Drug_Act_of_1983 https://en.wikipedia.org/wiki/Orphan_Drug_Act_of_1983 [4] https://www.npr.org/sections/health-shots/2017/01/17/509506836/drugs-for-rare-diseases-have-become-uncommonly-rich-monopolies https://www.npr.org/sections/health-shots/2017/01/17/5095068... [5] https://www.globenewswire.com/news-release/2017/12/11/1250709/0/en/Epizyme-Presents-Preclinical-Data-on-Novel-G9a-Program-and-Introduces-Next-Drug-Development-Candidate-at-the-American-Society-of-Hematology-Annual-Meeting.html https://www.globenewswire.com/news-release/2017/12/11/125070... [6] https://www.contractpharma.com/contents/view_breaking-news/2020-11-18/bionova-scientific-secures-first-client-commitment/ https://www.contractpharma.com/contents/view_breaking-news/2...