Ask HN: How to raise funds for rare disease research? • Hacker News Board

Re: Ask HN: How to raise funds for rare disease research?

#191

Post by tupilaq » Tue, Feb 08, 2022, 2:36 PM UTC

klankbrouwerij wrote: post #169

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…

Hey klankbrouwerij..

Just chiming in as my son too has an 18q deletion, albeit further towards the distal arm. Just to bring to your attention, if you were not already aware, of https://www.chromosome18eur.org and its parent organisation https://www.chromosome18.org.

Some great resources and there'll be folks who have experienced similar issues to you and yours.

Re: Ask HN: How to raise funds for rare disease research?

#192

Post by halukakin » Tue, Feb 08, 2022, 2:39 PM UTC

klankbrouwerij wrote: post #169

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…

Thank you. I recently read a little about Dr. Morgan's research as well. I hope she would take on KS kids as well for research. I think my daughter started to show some level of frustration as well, but currently, we are like what they call "helicopter parents", whatever she seems to want, it's done immediately. My understanding is we will start to see more of the frustration in the future.

Re: Ask HN: How to raise funds for rare disease research?

#193

Post by ricardolopes » Tue, Feb 08, 2022, 2:42 PM UTC

iamcreasy wrote: post #47

ricardolopes wrote: post #25

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…

That's nice! Do you happen to know any US based company that are working on similar objective?

Its competitors DNAnexus and Seven Bridges seem to be US based, or at least report having offices there. But Lifebit is recruiting internationally, and even has a US office now too, so AFAIK it should also be a valid option for US folks.

Re: Ask HN: How to raise funds for rare disease research?

#194

Post by halukakin » Tue, Feb 08, 2022, 2:46 PM UTC

hgh wrote: post #182

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…

I wasn't aware how much they raised. The figures sum up close to billion $ so far. I think there is a lot to learn from them. Thank you.

Re: Ask HN: How to raise funds for rare disease research?

#195

Post by fartcannon » Tue, Feb 08, 2022, 3:04 PM UTC

bluGill wrote: post #181

fartcannon wrote: post #130

Earlier quoted context omitted.

No, not personally, I do have 2 on life long treatments. But I was being too hyperbolic and I don't doubt your story. I'm just extrapolating incentives. Is there any incentive to cure (invoice once), when they can treat (life long invoices)? Certainly scorn is irrelevant as OPs comment suggests they're unwilling to work on rare diseases. And these companies are public. They have shareholders that expect them to const…

competion provides the incentive, a cure will put all your treatment competitors out of business as you get everything from everyone who doesn't like treatment. You know many people who would have died of smallpox,measles, polio, and the like 100 years ago, you just have no idea who those people are.

That is a reassuring perspective.

To be clear, I still think this conversation goes on in the background. Bill Gates famously convinced Oxford not to give the covid vaccine IP away thus preventing poorer countries from creating their own vaccines. The deaths from this act alone should be enough to convince you that money makes medicine murkier than you clearly want to believe.

Re: Ask HN: How to raise funds for rare disease research?

#196

Post by aloktayi » Tue, Feb 08, 2022, 3:04 PM UTC

rronalddas wrote: post #129

aloktayi wrote: post #118

Earlier quoted context omitted.

hey halukakin. so very sorry to hear about your kid. our family experienced something similar when a loved one fell ill and therapeutic options were unavailable. feel free to ping me at atayi@vibebio.com - happy to connect and see how we can help. our vision is to realize every cure for every community. rare diseases is where we are starting. and thanks Sri for the shout-out!

Hi on a side note, I am curious about how did you get to know that your company was mentioned in this thread? Did the OP reach out to you first? Or did you find this comment while reading HN?

for me, I was just perusing the replies and saw that Sri had mentioned us.

Re: Ask HN: How to raise funds for rare disease research?

#197

Post by webmaven » Tue, Feb 08, 2022, 3:08 PM UTC

biols wrote: post #5

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…

How do you (eventually) do phase 2 and 3 trials for an ultra rare disease that only has hundreds of patients?

Re: Ask HN: How to raise funds for rare disease research?

#198

Post by uthinter » Tue, Feb 08, 2022, 4:22 PM UTC

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.

Re: Ask HN: How to raise funds for rare disease research?

#199

Post by Thebroser » Tue, Feb 08, 2022, 5:50 PM UTC

zmmmmm wrote: post #94

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 me…

The thing about these developmental conditions is that in theory there a lot of different treatment modalities that can be pursued at the embryonic level that could address these conditions (viral or non viral gene therapy, CRISPR based base deletions/insertions of the correct allele, etc.). However, once embryonic development has occurred and these conditions have manifested, it would be very difficult to alleviate them. Note that this is very different from something like sickle cell anemia. As a metaphor, think of the human body as a brick house. Using state of the art biotech to treat sickle cell anemia would be like trying to replace a leaky pipe hidden under concrete in the house. Yes it may be difficult but it is doable as it’s a fairy isolated issue. Trying to fix developmental diseases like KS would be like trying to replace every inch of the mortar in the brick house. It would be painstakingly difficult to do it right without the whole house collapsing. In summary, the tech you are referencing is basically limited to pre-developmental organisms, it needs decades or centuries to go before we may feasibly perform large scale genetic engineering that can undo post-developmental physiology.

Next, we have to understand that there are serious ethical considerations on treatments that target embryos. Biology is still very much a black box field. It is near impossible trying to factor in all the parameters in this problem space, especially when you are altering genes at a highly regulated stage of human development. Millions of model organisms like mice and non human primates are used to test therapies, but would we be willing to do the same to human embryos at such a large scale? I would hardly imagine an IRB approving research like this in my lifetime in the U.S.

Re: Ask HN: How to raise funds for rare disease research?

#200

Post by Coding_Cat » Tue, Feb 08, 2022, 6:24 PM UTC

csee wrote: post #128

Coding_Cat wrote: post #108

Earlier quoted context omitted.

It is possible to maintain the benefits of competition without the level of duplication and profit motives that we struggle with today. Large scale collaborative scientific endavours like CERN show us that it is possible to both publically share knowledge and still explore multiple avenues and competing designs. There's also no financial profit motive and while CERN receives a lot of public funding, it has to pump th…

I agree that it's possible to preserve many of the benefits of competition under a more centralized and explicitly cooperative structure. You see this sometimes within large for-profit companies that have competing products, which are siloed from each other in the workplace. This works fine, because there is still a profit motive at work and the identical evolutionary forces that will kill a particular silo if it's u…

> This works fine, because there is still a profit motive at work and the identical evolutionary forces that will kill a particular silo if it's underperforming, and the same competitive pressure to perform.

the profit motive in a multinationally funded system is still there in the sense of 'we have a budget of X, what's the best way to spend it?'. And research avenues that fail to yield the expected results can be terminated. In my experience, disagreement between researchers or groups were also far from uncommon. But maybe that's just physicists being exceptionally knowitall^H^H^H hard to convince :)

It's not flawless, but I don't think it could be less efficient use of public money than the current system where we publically fund early research and the succesfull projects get snatched up by the industry, patented, and sold for large profits. Even if a lot of pharmaceutical research ends up going nowhere (or a competitor beats them to it), we still end up paying for it trough the profit margins of the parent companies.

Raising healthcare costs are a serious concern for many countries, and part pharmaceuticals are a non-trivial part of the cost. Researching and producing them locally might help reduce that cost and stimulate a broader healthcare industry.

I do fear that pharmaceutical research might be to politicized for a multinational approach(e.g. HIV, what disease to prioritize). And there's bound to be some backlash from certain groups over a large 'shadowy' multinational body doing human trials.