I've advised another family on how to repeat our success, and they managed to find a second patient by setting up a website for their child. Both kids had de novo mutations in KDM1A and could be mistaken for brothers. So, sequencing + social media has already discovered a second disease.
After the success with Bertrand and NGLY1, the NIH reached out to me to see if there was a way that they could integrate social media into their Undiagnosed Disease Program.
Unfortunately, the NIH can't (or won't) set up anything right now.
There's an urgent need for this too: genome sequencing is going to unearth the raw data necessary to discover thousands of new genetic disorders like NGLY1 deficiency over the next decade.
But, if that data stays isolated, those discoveries just won't happen.
Kids won't get diagnosed.
If only there were a site full of technically minded entrepreneurs that we could share this opportunity with...
Also, pre-software development, I did grad school in public health (lots of epi and biostat in a dept of inhl health) and briefly worked in health research. So I may be in a good position to help out.
I'm in the process of setting up something using Flask right now and will soon (next few hours) open source it on Github and open it up for contributions. I can't absolutely guarantee that I'll be able to maintain it long-term, but I can certainly get a forum, site, and member registry database up and going and open sourced. Hopefully in such a way that it could be managed by a non-programmers (I realize you have such skills but you obviously have your plate full).
Perhaps eventually it could bloom into a full registry of genetic data, pending resolution of privacy issues (maybe using something like dnasubway).
I'd really love to team with an established designer(s) on this. I can hack up a UI, but would be best to team with a designer(s). I'd also love to team up with other devs who are interested.
Would sociallyrare.org be an ok name for a social media hub for rare diseases? I went ahead and registered that name, but if you have any other suggestions/requests I'd love to hear them. Not sure if Socially Rare has the right ring to it.
Also, if you need any help with the site, let me know, I suck at graphics, but I'm a crack shot with databases of all sizes. I do know some good designers who would probably do the main + css for no fee.
And many thanks to eigenrick and tgokh for your offer to help. If it turns out that somehow rareconnect.org is inactive or not functioning well, I'll definitely ping you once I get the site on Github.
If you'd need someone looking into UX, UI and front-end work on this, shoot me an email (contact information in my profile). I work within the fields of digital design and would be very interested in giving a helping hand for a project like this.