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

My beautiful daughter Nil (3yo), has a rare genetic disorder called Kleefstra Syndrome (KS). She cannot walk or talk at this point. Doctors believe she will walk eventually, but speech they are not so sure about. KS involves partial chromosome deletion (or sometimes mutation) of a particular gene, EHMT1, which in turn causes a protein called GLP not to be produced. Moderate to severe Intellectual disability, limited/absent speech are some of the symptoms.

KS was first “discovered” in 2010. Thanks to “whole genome sequencing”, it is now possible to diagnose KS with a single draw of blood. Maybe that’s why we are hearing about KS kids more often in our community.

We have a non-profit foundation based in the US ( https://www.idefine.org ) to improve awareness and lead/fund potential research for KS. Also, there are already two active pieces of research that provide potential improvement for these kids. One explores drug repurposing ( https://www.nature.com/articles/s41467-019-12947-3 ), the other is about supplementing the missing proteins ( https://www.sciencedaily.com/releases/2021/09/210921100245.h... ). Both have very promising results but are not close to clinical trials yet.

Still, several potential treatment modalities need to be explored in depth. Antisense Oligonucleotide Therapy (ASO), gene therapy (CRISPR), drug repurposing are a few modalities to name.

Known KS individuals sum up to only a few hundred patients so far. When the patient count is so low, pharmaceutical companies are not interested in pursuing research for that disease, so patient organizations are forced to fund their research themselves. This has been done by several rare disease patient organizations before. Batten Disease (Beyond Batten Disease Foundation funded $35M research), Angelman Syndrome (Fast Foundation funded $26M research), SMA (Cure SMA funded $35M research), all funded successful research and managed to reach clinical trial level.

Sorry about the extra-long intro, but I wanted to provide context for this relatively “new” genetic disease which is hardly known. Since HN has members with extensive digital marketing experience, I’m hoping you would share your ideas with us. Long story short, if we can manage to raise several million to kickstart multiple types of research in parallel, then we can offer these kids a chance.

My first idea is about co-hosting a series of Instagram live streams with celebrities to ask for donations for research. I’m not sure if this is already a solid fundraising technique? Also, I don’t know the first thing about finding celebrities as well.

A second idea is, recording a youtube video and promoting it using google ads grants.

At this point, we want to leave no stone unturned about fundraising.

So here we are. Any advice would be greatly appreciated.

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.

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.