How It Feels to Have 300 People Hack Your Genome
About a month ago a –dare I say ‘crazy’– event came together that I’ve been very lucky to be part of. We organized a genomics “Hackathon” around my genetic condition, called NF2. More then 300 smart people from across the country signed up to spend their Friday night and weekend to participate, ranging from people in biomedical research, Pharma, AI and computer engineering. This alone felt humbling before the event even got started.
The genomics dataset that was provided during the weekend was my own, since that was the only one available at the time. Luckily this is not going to stay like that, since we have other brave patients already signed up to provide their sequence data as well. This is our mission, as a patient community we want to build the best dataset for NF2 out there to unlock new research. This event shows what you can already do with just one, imagine what’s possible once we have much more. (Check the final presentations on Youtube).
Genomics and computing power go hand in hand, and they drastically lower the barrier for anyone to do medical research. Where we used to be limited working in the realm of biology –looking at real cells in labs– now we can do part of the analysis in the computer. We can generate many hypotheses before actually testing them in real cells. The biggest problem we want to tackle now is the availability of *good* data. And for various reasons I believe this data has to be provided (and owned) by the patient community itself.
It is hard to explain how it actually feels to be in a room with a few hundred really smart people trying to precision diagnose your medical problem. To have them work around the clock to collaboratively create 22 (public) presentations, build AI diagnostics pipelines and find potential new drugs over the course of a weekend. To have kitchen-conversations, talking about developing new drugs or brainstorming about novel ways to look at the problem. The energy all participants brought to the table that weekend has been truly inspiring, and shows me what can happen to have people with great intellectual diversity in the room collaborate around a real problem. Many of the participants are eager to continue working with us, and we’re currently figuring out the best way to support those efforts.
Thank You
I want to say thank you. Thank you for being authentically interested and being part of an unforgettable event. Thanks to all the people around me supporting me for doing this work. Thanks also to the organizing crew for believing in it and making it all possible (Pete, Laura, Keren, Carlos, Dan, Bridget, Sean, Mo). Thanks Marco Giovannini, Ben Busby and Salvo La Rosa for flying in to bring their vast knowledge and professional experience. Thanks to all the remote and local participants — and those who flew in from across the country. Thanks to our sponsors for providing the infrastructure and financial means. And finally, I’d like to thank the patient community who I have been in close contact with for providing your support for the project. You’re the reason I’m doing this, and your support and involvement is crucial moving forward.
If you haven’t yet, please join us to learn more about how you can help building the best genomics NF2 dataset out there!
– Onno
