I just joined the site, primarily because I wanted to share my experience with Research to the People, a 501©3 nonprofit using the best in multi-omic technology, including third-generation / long-read whole genome sequencing, in conjunction with crowd-sourced analysis, to molecularly diagnose complex conditions in rare disease and undiagnosed disease patients. A post-event trailer of my event, which attracted over 200 people from around the world, can be seen here: https://youtu.be/D-XFKZ2K9hA
Here is the 80+ minute Final Presentations video: https://youtu.be/f2HJ2mx4AZ4
Their website is researchtothepeople.org
Anyway, prior to this event, I had 3 whole genomes performed with Illumina technology. My TNXB gene defect that causes my Hypermobility-type Ehlers-Danlos Syndrome, was not found. With third-generation Oxford Nanopore whole genome data, which Dazzle4Rare (run by Kimberly Tague, my friend) and Research to the People (run by Pete Kane, also my friend) worked with me to get from Dante Labs (thanks to Andrea and Generoso), everything changed. June of 2019 was an amazing time for me, because I never knew that such an army of people could come together to help me.
Research to the People is aiming to expand, but it is in a pilot phase with only 7 patients at the moment. It is patient co-led research – I am formally a “Patient Collaborator.” I was able to ask for the cutting-edge testing I thought I needed, like a metabolome, a Pacific Biosciences long-read genome, a proteome, and more. I got everything I asked for, free. And then PhDs, MD’s, and many credentialed research scientists from Stanford, Berkeley, Harvard, King’s College London, and institutions in Canada and India all participated in the analysis, all using different methods, including artificial intelligence and machine learning tools. It was unreal.
After the event, I became a permanent member of the nonprofit, with my own RttP email, and now I nominate the next round of patients for inclusion in the program. My nominee was Naomi, as seen on the site, who has a suspected mast cell disorder of unknown etiology (she is to be sequenced with OxNano and PacBio like me, at no cost to her). I write this because I TRULY BELIEVE this is the model that will change the face of diagnostics for all of us. Pete intends to scale in 4-5 years to take 100,000 patients a year.
As of now, he is actively seeking funding (not from anyone here, don’t worry). I promote RttP because I want everyone to get what I got. I am here to let you all know about it and maybe provide hope.
Current second-generation / short-read genome sequencing technology (Illumina) only has a 30% diagnostic yield because it has holes in the data. A lot of the genome data is lost when it is reassembled, and that is why I was misdiagnosed with the wrong condition for 3 years – with hereditary fructose intolerance due to a flagged ALDOB gene. RttP makes EXPENSIVE research-grade diagnostics available that you CANNOT get from your doctor – the genomes cost $10-20,000 each, and are at no cost to the patient.
It really changed my life, and I hope my sharing it here makes it more well-known in the rare and undiagnosed disease community.