How to raise funds for rare disease research?

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 population and not being able to, even though me and my colleagues are poised to do so. I often get maligned for being a scientist in pharma; laypeople often assert that I "don't want to treat cancer / rare genetic disease / etc; because then I'd be out of business." I can assure those reading that all of us DESPERATELY would like to work in these indications, and often times it's tragically finance that dictates whether we are able to or not. The system feels broken.

If you’re not familiar with Matt Might, look into his work on the rare genetic disease that his son has. His story is really quite inspiring, and maybe there will be a strategy that you can apply.

Here’s a good post, he’s a prolific blogger: https://matt.might.net/articles/rare-disease-internet-matchm...

(Edit: this is a bigger picture post detailing the whole process: https://matt.might.net/articles/my-sons-killer/)

Depending on the kind of research you are looking to get funding for, you might also look into an NIH SBIR grant or something. https://rarediseases.info.nih.gov/tips/pages/124/

I can't remember where I read it, though I'm pretty sure that it was someone in your situation *: By far the easiest non-technical solution is to make it as easy as possible (logistically) for medical research companies to find a suitable cohort to test the intervention on.

As you note with a patient pool of the order of hundreds, they are likely to be very scattered and so if you can get together a cohort for a medical trial, it makes it much easier for Pharmaceutical companies to test repurposed drugs against that cohort.

* I think it was linked to here on HN. Apologies for the shoddy search terms but the only things I can remember about their story was: the parents both dropped out of software jobs to get biochem (or biomed?) PhDs to research the disease (don't remember what) and the ease of cohort accessibility was their number one takeaway for their retrospective blog post(?). If you can find that blog post its well worth a read for all the non-technical (i.e. logistical/financial etc.) aspects of rare disease research.

My son (now 4yo) was diagnosed with two rare diseases, due to a mutation in a collagen production gene, and at first it wasn't clear if he was ever going to walk at all. His life will always be severely impacted.

I feel your pain about wanting more R&D around treatments and potential cures but finding almost nothing because it wouldn't be commercially viable.

My main strategy was trying to contribute with what I know best: software development. The company I joined (lifebit.ai) is building tooling to reduce medical/pharma R&D costs, in an effort to make it economically viable to research diseases that weren't viable before. This is a mission I can get behind and that feels like the best use of my time.

I hope you get to find the best way to have the biggest impact. Good luck!

I imagine how hard this must be on you and your family and kudos for having the energy and wherewithal to try to organize. I think there are a few people/places that might be worth reaching out to in order to learn more.

1. AllStripes (https://www.allstripes.com/) -> It might be worth reaching out to them to get put in contact with other foundations that might be working on the same thing.

2. Reaching out to RareBase (https://www.rarebase.org/) or Ethan Perlstein (https://mobile.twitter.com/eperlste) to talk about how they work with similar foundations.

3. There is a new company called (https://www.vibebio.com/) that are working on helping fundraise for patient communities using DAOs. I think Alok Tayi is one of the founders there.

4. I know there are some tech founders with family members of rare disease that have gone through similar experiences. For example, I think Rohan Seth at clubhouse has one (https://www.lydianaccelerator.org/). They might be good resources to reach out too.

In the world of business acquisitions, to which I’m no expert but know a little, it’s not worth it for private equity firms to even look at businesses operating in less than probably 25 million in revenue, because it takes (near enough) the same amount of effort to acquire a business doing 25 million as a business doing 500k revenue.

However, for a player like me, it’s worth me operating in the 500k to 25mil range and buying businesses there because, first off I’m not a millionaire, and second, I can assemble a group of related small businesses which collectively would make 25 million which I can then sell to private equity for a larger multiple than I bought them for.

My point being, is there a way to create some kind of collective of rare disease causes and raise money as a group, collectively funding the labs and salaries of scientists to work on these diseases, ideally in an efficient way so that the work done on one disease can, at least partially, be effective for a number of the diseases in the group.

I don’t know the answer, I just wanted to offer an idea from my perspective.

One thing that has helped to make progress against progressive supranuclear palsy, not as rare as KS, but still quite rare, is that it has properties that are ideal for testing potential Alzheimers drugs. PSP patients have anomalous quantities of one of the two proteins that turn up in Alzheimers patients, so they are ideal for separating the effects of new therapies.

So, a win-win emerges: PSP patients get well-funded clinical trials of therapies designed to address their affliction and the entire world gets improved understanding of therapies that target Alzheimers.

If there is something special about KS that allows it to be a diagnostic for therapies in adjoining disease with broader impact, then suddenly an avenue opens for intense investment in therapies for KS.

It's a long way down the road, but if you're ever interested in funding university-based research (in the US):

Universities have something called an indirect rate. This is basically how they pay for things that a private company would build into the overall cost of the project. Things like administrative folks, and lights, and heat, and IT support for the internet, etc., because "direct costs" are only what applies directly to your project.

These are often 50%+, and tend to come as a shock to people, even when the total cost is well less than private research firms.

The thing that doesn't get talked about as much is if you're a funder, if you have somewhere on your site, the funding announcement, etc. that you're capping indirects at say, 15%, that it's much easier for researchers to convince university administration to use that lower rate (in that if you don't have it, we're SOL).

So if you do ever manage to head that direction, please do make sure to include something like that.

This probably isn't any help but as a father to a severely disabled autistic girl it feels the entire medical system is broken. There's so much future squandered in the hopes of short term profit paid for at the cost to the next generation.

I know people say "Autism can't be cured" etc. But having met other families in this process and visiting group homes and the potential for a life of happiness for kids like ours my hope grows bleak and I honestly catch myself crying when alone. Especially seeing neurotypical children playing or how other parents don't see the gift of a natural life their families have. I too turned to all sorts of exotic ideas of diets, behavioral therapies, vitamins and it was out of desperation. I put my daughter through a stem cell study at Duke that seemed promising but I then saw danger of losing potentially my daughter to experimentation. I was told by neurologist and psychiatrist that my daughter would never talk, never interact with the world. Today she's talking. I credit ABA, stem cell infusions, and a diet focused on fat consumption (basically keto) but in that same vein I've also learned to accept our fate.

Now I've cut way back and I just enjoy the gift of being with her. Her gains and triumphs whilst they pale in comparison to a neurotypical kid are harder but just as monumental. I know now the best thing parents or families in our position is to create a world that would accept our kids, take care of them, and create for them a place where individually they could have a fulfilling life. Yes a cure would be great but there are so many kids with different conditions, illnesses, accidents and circumstances that will have denied them a future. Modern day society doesn't adequately cover what children like ours will need when we are gone.

Unfortunately I cannot help, as I have no experience with this. It is a very sobering thing to consider, and one my family is not altogether unfamiliar with. I had an uncle that was diagnosed with a very rare form of cancer, and through a very unlikely but not unwelcome turn of events involving a kind nurse and flagging health insurance, his life was saved at the St. Jude Research hospital (in TN).

About twenty years later, he was grown up and was soon to have a family, when the son of a family friend was diagnosed in infancy with the same form of cancer - except it was even more rare. This strain is almost always manifested below the neck (like my uncle), but in this child, it was in his brain. It has been a battle, but the boy was able to fight through it several times. Multiple resurgences later, he is finally recovered: thanks to the research done on my uncle.

All that to say, research on rare diseases is extremely important and something I am very passionate about.

https://seed.nih.gov/

NIH provides funding and accelerator programs for medical startups. If you have the expertise, apply yourself, or find a grant writer to help you fill it out all out. The programs themselves are great and they provide a ton of support. Funding is in steps (e.g. step 1 - $200k, step 2 - $1mil).

I'd also recommend https://wefunder.com/ of who I know many of the folks running it and it is great, but the NIH route is more specific to your case.

You name three organizations who did the exact thing you are looking to do. Have you reached out to the relevant person (it's almost certain that 1 or 2 people at each of these orgs knew how to raise money) at each org to understand in detail how they did it?

There are tricks to this kind of stuff, and some people know the tricks. I guess the first step is knowing that it's a real skill, that people know how to do it well and you need to learn from them. I suspect they'd be willing to share them given the circumstances.

My cofounder and I are working on a synthetic biology startup concept targeting rare diseases. We're both genetic and microbiology generalists with a desire to dedicate ourselves to improving the human condition.

I find it serendipitous that we just had a two hour call today discussing our desire to work on creating a treatment for one or more rare diseases.

The one area we lack expertise in is the regulatory and commercialization pipeline. If someone reads this and is interested in speaking with us about how we can work on this (or other) rare disease and could offer the mentorship we need to ensure our work can actually reach the hands that need it, please email me: josh@everymanbio.com

We'd consider a non-profit model if it makes sense.

I'm sorry about your daughter. This is a tough problem.

Even if pharmaceutical company profit weren't an issue, limited resources still would be a problem, so very rare diseases would still suffer from lack of attention, I'm afraid, because if we replaced "what research produces the most profit" with "what research benefits the most people", that still wouldn't help KS sufferers much. Perhaps the kind of fundraising you are doing is the best that can be done. Or maybe some line of research that can benefit sufferers from multiple diseases (say, anything that results in a missing protein) could help a larger number and obtain government funding.

Hi, your efforts to better understand your daughter's diagnosis are remarkable, and appreciated. A rare disease lights a fire that's almost impossible to extinguish, you want every question answered, there often are none, but it doesn't stop you from searching anyway. Your situation resonates with me a lot, my little girl was diagnosed with another KS - Kabuki syndrome, specifically a mutation with the KMT2D gene (thanks to whole genome sequencing), which is rare, but common enough for their to be a few decent resources out there now, specifically ones like https://www.allthingskabuki.org and https://www.kabukisyndromefoundation.org which helped my wife and I better understand our daughter's diagnosis. Kabuki is multi-system affecting, often accompanied by heart disease, feeding, hearing, hypotonia, endocrine, limb/spinal/skeletal/organ abnormalities, and similar to Kleefstra, intellectual, speech, and mobility difficulties.

Your ideas all sound fantastic, and definitely on the right path, maybe reaching out to foundations of other rare syndromes may offer some help, likewise with Facebook groups, and the like. I run my own non-profit https://sterlingstrong.foundation to bring awareness to KS, CHD, isomerism, etc, and to help families during long ICU stays, and further research by donating to other research centers such as https://www.kennedykrieger.org, maybe they, or orgs like Center for Rare and Neglected Diseases https://crnd.nd.edu/directors-page may help? I wish you and your family all the best!

My oldest son (4y) has also a rare genetic disorder (18q12.3q21.1 deletion). Part of the chromosome that is missing is the SETBP1 gene [1] and this deletion can result in developmental delay, reduced speech and motor skills, intellectual disability and other issues such as autism. My son’s speech for example is limited to simple consonant-vowel syllables. Dr. Angela Morgan, who is mentioned on the IDefine website, is also conducting research on the SETBP1 gene [2]. You can take a look at the website of the SETBP1 Society [3] to get some additional inspiration for your foundation. They are also raising funds to promote basic research and awareness.

Community building will be an important part of your foundation and parents. In our case, we joined the SETBP1 support group on Facebook. It is always heartwarming and comforting to read other peoples and to know that you are not the only one that is in a similar situation. The Facebook group keeps us also updated on recent scientific progress and we were able to join a research study on SETBP1.

I know that having a kid that is unable to communicate is hard. Very hard. When our son was younger he was sometimes very frustated because he could not express himself. But communication is more than speech. Our son is now mainly expressing himself with key word signing (in our case the Dutch variant SMOG) and his speech is gradually improving (at a very slow pace). I hope your daughter will also find a way to properly express herself.

[1] https://rarediseases.info.nih.gov/diseases/13379/setbp1-diso...

[2] Morgan A, Braden R, Wong MMK, Colin E, Amor D, Liégeois F, Srivastava S, Vogel A, Bizaoui V, Ranguin K, Fisher SE, van Bon BW. Speech and language deficits are central to SETBP1 haploinsufficiency disorder. Eur J Hum Genet. 2021 Aug;29(8):1216-1225.

[3] https://www.setbp1.org/

Hello!

> How to raise funds for rare disease research?

I'm not a marketing expert (though I do work with rare diseases). But a good starting point might be to checkout https://www.rarebeacon.org/ There certainly is help and there are options, but as you understand finding and accessing them isn't always easy. Good luck on your journey

You should try asking on https://reddit.com/r/nonprofit or even reaching out to people at those foundations you mentioned for other diseases.

I'd start with a simple campaign page with your mission, your goals, some cute pics and some way to collect donations and capture emails. There's loads of fundraising CRMs out there. Givelively is a decent one and costs nothing but there's plenty of options. Even just a Facebook page could work.

As for how to acquire leads from scratch that's a tough one. Ads can work, you can also try reaching out to media orgs to try to get some airtime to talk about your campaign.

You might be eligible for some of the grants made by CZI for their rare as one program focused on supporting patient driven research for rare diseases.

https://chanzuckerberg.com/science/programs-resources/rare-a...

I'd highly recommend reaching out to Matt Might and his team at UAB. (https://www.uab.edu/medicine/magazine/178-codebreaker-a-deep...)

This is what they specialize in. Feel free to e-mail me if you need help getting the conversation started there, I know a few of their MDs and researchers.

EDIT: Apologies, I see this has already been recommended and Matt has himself replied. Best of luck!

Not quite on topic, but I do believe a way needs to be found to make development of targeted therapies feasible for these ultra rare genetic disorders. The current model seems to be that they go through the standard clinical drug development pathway which is never going to be economically feasible for something applicable to such small cohorts of patients.

The best I can see is to invest very heavily in the common methods underlying how the therapies get created - gene editing, knockout / interference etc. The better these work, the less risk there is that a drug is going to fail at clinical trials. It means, a lot more basic research as well as applied research to translate the findings.

Then we need to work on smoothing the clinical trials pathway as much as possible so that if a method is operating from proven principles it doesn't have to jump every single hurdle as if it is completely novel. Obviously, there are huge risks here if it goes wrong. But on the other hand, we can look at the cancer space and see that patients get very ready access to experimental drugs there, and overall it is enormously beneficial to overall progress. Rare disease sits somewhere in the middle - people are not (usually) dying but their life quality is so heavily compromised that there ought to be some allowance for a more accelerated access to trial drugs than if we are talking about routine medical use.

Maybe take a look at the orphan drug act for inspiration, https://www.fda.gov/patients/rare-diseases-fda

If I was a billionaire looking to Do Some Good, I would look into financing medical trials for non profitable diseases like this one.

The other kind is about drugs that are out of patent, like Ketamine, which very likely can cure important diseases, but since no one stands to make back the money it costs to get them approved, they remain illegal.

Of course, I'm not at all a billionaire, but some of them read HN.

From the very little experience I have of rare chromosomal disorders and attending a number of conferences dedicated to my sons specific condition, what i do see is people passionate to understand and improve things for their kids and for others primarily through research into conditions and from the dissemination of information. It is obvious that you are determined to do what it takes.

Please do try and make contact with Dr. Jannine Cody[1] who when faced with a not too dissimilar position to yours pretty much single handedly set about doing what she had to in order to understand and improve her daughters condition and in the process has created a worldwide network of families that meet at conferences and fund research.

Good luck, know that you do not stand alone. It might seem like you do, but you'll be surprised.

[1]: https://www.chromosome18.org/chromosome18-team/jannine-cody/

We had a scare around Cystic Fibrosis. I admire your courage and compassion - my best to you and your family.

The story of how CF treatments developed (Trikafta) is remarkable. KS seems much rarer than CF, but I recommend studying how the CF Foundation evolved. https://www.cff.org/about-us/our-history

There are lots of good suggestions in the thread. It seems you're already doing this, but I recommend connecting with people (e.g. families of those with KS, medical professionals with an interest, marketing volunteers, ...) and keeping in touch. This can help create momentum behind a movement, leverage networks, and mutual support/encouragement. We also very much appreciated connecting with others affected by CF during that time.

I found out a bit about this when a good friend of mine had two daughters that were born with a rare genetic disease (Morquio).

The US government, since 1983, provides grants and streamlines drug development processes for development of drugs for rare diseases. The government calls them “Orphan Drugs” and defines them as drugs that treat diseases that affect less thank 200k people annually, and are not expected to be profitable within 7 years.

I believe that my friend said that pharmaceutical companies are actually required or strongly incentivized to research some number per year but I can’t find a reference right now.

https://rarediseases.info.nih.gov/files/fda%20orphan%20drugs...

Past discussion about a rare disease that found a cure, but due to economics and possibly efficacy it isn't produced any more. https://news.ycombinator.com/item?id=18475919 glybera

I don't have any expertise that can help here, but I want to chime in and say I feel you. My partner has a rare genetic disorder as well that has put them in the hospital many times in the past few years. We have been VERY lucky because a new drug that treats their condition fairly well was approved by the FDA just MONTHS before my partner started experiencing symptoms (https://en.wikipedia.org/wiki/Givosiran if you're interested). It's an extremely expensive medicine. Fortunately our insurance covers it! Best of luck to you and your family.

PS: I'm actually going to try apply to work for AllStripes soon.. Wish me luck!

Very sorry to hear about your daughter but there has never been a better time in the history of medicine to be working on biotech solution to rare diseases. You will have to become an expert yourself in some of the pathways and therapeutic avenues that may help. But you can now fund academic research by directly sponsoring research at an academic or clinical lab, including doing so through Molecule.to (not involved w the company but a fan) that enables research funding from passionate communities. Just keep going one step at a time. Zen

This is probably a bit off-topic, but I wonder if you know about the GenIDA project: https://genida.unistra.fr/. It's basically a research website where families can register and answer questionnaires about the everyday life of patients with rare diseases. The data can then be used to discover new things about these rare diseases. They have a Kleefstra cohort if I recall correctly. Maybe you could get in touch with the people in charge, like Jean-Louis Mandel.

In countries with single-payer health care, it seems reasonable to use some funding from taxpayers on diseases that aren't considered to be profitable by the existing for-profit medical research companies. i.e. the medical research market is not providing what is needed by the population, so supplement that market using taxpayer funding. In the USA though, that doesn't seem feasible, but perhaps you could reach out to patients in Canada, the UK, Europe etc and through them get taxpayer funding from outside the USA.

If your foundation is good try to get a lot of $10-$20/month donations. Then use that to fund one researcher. Someone who can focus without needing to worry about funding can do much. If you can't get one, maybe fund a grad student who does research in your area.

Though if you are trying to get clinical trials you may need more money, but just the act of having a lot of small donations can work wonders.

Of course some here will donate to your charity, and all money is useful, but consistant money is something you can budget around.

Human trials for drugs is the expensive part. If the situation is urgent, look into compassionate use and right to try. If you have time, the fastest way to get it to production is to have the trials done in a lower cost country. At the end of the day if you control the experiment and manufacturing pipeline, then you can make a develop a drug for a much lower price. You absolutely cannot cut corners in the experimental and engineering stage even if you do it in a more compliant regulatory regime.

I am so sorry to hear this. Your story resonates.

I am the founder of kernls.com, a giving-platform that connects motivated donors and medical researchers looking for funding. We work with some of the top medical research institutes in the world, and connect people like yourselves directly with researchers to support awareness and fundraising.

Check out the site, and if interested I would be really happy to chat, shoot me an email at mike@kernls.com.

There was a post some years back on HN. The child had a rare disease and the parents were engineers. Eventually they took up studying medicine and pharmaceutical and started working on the cure them selves. If anyone could link that post I think it will be very helpful. I havent been able to locate that post till now. Maybe those parents can help you out in some way.

Please look into cureforviolet.com

I'd even reach out to David and talk to him about it. His daughter was diagnosed with GM1. He used his media skills to tell her story, worked with the leading nonprofit in the space, reached out to bio-engineering companies to try to get his daughter into a trial...and they just had a fundraiser in LA.

Good luck!

Hmmm… what does the average KS patient cost to their insurance company?

What is the likelihood of research finding treatments that will reduce that cost, and by how much?

I wonder if a financial instrument could be crafted that captures a potion of future insurance company savings in return for funding research now.

Probably would require some concessional, first loss funding, or perhaps a philanthropic evergreen fund.

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...)

Australia has "Rare Voices Australia" which is for rare genetic diseases that face this same issue. I have met the co-founder who is an impressive and emphatic person. Similar probably exists where you are.

https://rarevoices.org.au/

I’m not familiar enough with this space to say how much overlap there is with what you describe, but you may be interested in:

https://www.lydianaccelerator.org/

It is the project of a former colleague; I don’t know the latest status of their efforts

Total layman question - can we get mRNA injection causing production of required protein in situations like this?

I have no experience in this whatsoever. However, perhaps trying to make a mini celebrity of a small number of the patients, trying to go on TV talking about how there could be a treatment if there was just enough funding could help? Seeking to maximise empathy to get donations, pretty much.

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.

https://www.statnews.com/2018/10/22/a-tailor-made-therapy-ma...

I'm sorry for what you are going through and can't offer any advice pertaining to your main question. Have you heard of AllStripes (https://www.allstripes.com/) by any chance?

The ice bucket challenge was a good example of a marketing action that collected money.

>few hundred patients so far. Did you consider non-US companies? few_hundrend x $500/month...

Did you talk with universities/academia? They have laboratories and students who may be will be glad to help.

https://medium.com/lydian-accelerator/saving-lydia-62a1c0bdf...

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

I wondered, could there be scope for a commercial or not for profit partnership with a University offshoot research team.

Google ads grant can only be used for search ads, not too sure if you can promote youtube video with the grants credit.

Selfishly I'd like to do the same for Otosclerosis, a hearing disease that manifests in early 20s and 30s.

Instead of asking for donations of money, could you ask companies to work pro bono / donate resources. I.e. biols the computational biologist (top comment) could donate Friday afternoons to research. Pharma/biotech companies could use this as marketing to improve their image.

Let's discuss this idea on Cure Odyssey tomorrow with Casey and other Gene Fixer regulars!

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

Look into EmCell.com - there's a free documentary on the clinic here: https://stemcellsmovie.com/ - under the round "Watch Movie Free" button.

They've not received much attention, nor do Western doctors/researchers have much to any knowledge at all in regards to what they're doing - because for the last 30 years they've been using fetal stem cells to successfully treat a variety of conditions; and last 25+ years offering treatment clinically.

Conditions like Multiple Sclerosis, which have "no cure" in the Western world, EmCell states and their experience is (which the documentary done by independent film maker follows at least one person treated for beginning MS symptoms) that if you treat MS earlier enough, before there's too much disease progression destroying the body's healing abilities, that the fetal stem cells will cause the dis-ease to stop progressive and even to regress (to heal) potentially fully (to be cured); multiple dystrophy, ALS, etc. are other "uncurable" treatments they offer treatment for.

As in the documentary it will be explained, they used fetal tissue that is 7-12 weeks of age, which is before the tissue begins to differentiate into that specific human tissue - before the immune system starts to develop, and so they argue it's safe to inject in anyone - as we all started from those base tissues.

I'd suggest looking at their website (which they updated recently so it's not as easy to navigate IMHO) but then also to email them to ask them specific about your daughter's issue. My guess is they at minimum would state that you could try to see if it helps - but maybe ask if they have treated other rare genetic disorders with any improvement seen.

Lately they've been diving into more specific research, like trying to improve fertility - injecting the testicles - which initial research showed a 30% increase in motility/health in sperm, etc.

They list a lot of success stories - https://emcell.com/success-stories/ - where they include (at least in their previous website they did) long-form video testimonials following them.

They also inject placental tissue into a patient's body, as placental tissue apparently has powerful anti-inflammatory and immune regulation mechanisms - so it's possible that a large amount of benefit may come from re-balancing/re-regulating the immune system however the placental tissue works to do so.

please check out Perlara and Ethan Perlstein

https://twitter.com/eperlste?lang=en

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 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-busin... [2] https://healthcareglobal.com/top10/top-10-most-expensive-dru... [3] https://en.wikipedia.org/wiki/Orphan_Drug_Act_of_1983 [4] https://www.npr.org/sections/health-shots/2017/01/17/5095068... [5] https://www.globenewswire.com/news-release/2017/12/11/125070... [6] https://www.contractpharma.com/contents/view_breaking-news/2...

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