Why We’re Launching the Largest Patient Driven Genetic Study for hypermobile Ehlers-Danlos Syndrome and Dysautonomia

A Personal Letter from Our Founder & CEO

I wanted to share something deeply meaningful to me personally, shaped by my own experience living with a genetic disease.

Today, we announced a collaboration between Sequencing and the Norris Lab at the Medical University of South Carolina to launch what is expected to be the largest patient-driven genetic study ever focused on hypermobile Ehlers-Danlos Syndrome (hEDS) and Dysautonomia.

Like many of you, I know how long, frustrating, and isolating the search for answers can be - especially when symptoms don’t fit neatly into existing boxes. Too often, people are left on a diagnostic odyssey that can last years or even decades, not because science lacks potential, but because research moves too slowly and lacks access to the data at scale.

This collaboration is about fundamentally changing how research happens and how quickly patients get answers.

By bringing together patients in our community who already have whole genome sequencing data with researchers studying complex, under-studied conditions like hEDS and Dysautonomia, we can remove many of the traditional barriers that slow discovery. Because participants already have their genome sequenced, researchers don’t have to wait years for funding and recruitment - they can begin working immediately with large-scale, anonymous whole genome data, while you retain full control over whether and how you choose to contribute.

I also want to share the intent behind this collaboration. There is no financial incentive involved: Sequencing is not paying the Norris Lab or MUSC, and they are not paying us. The goal is to accelerate research through a more direct and transparent connection between our Sequencing community and researchers.

If you’ve already completed whole genome sequencing with Sequencing, you now have the opportunity to opt in to this research. Participation is completely voluntary, data is de-identified, and individual results are not returned. What is returned is something many of us care deeply about: the chance to help move research forward, potentially shorten the diagnostic journey for others, and lay the groundwork for better understanding and, over time, better care.

Whether your focus is finding answers, supporting loved ones, or investing in long-term health and wellness, this is a tangible way to make an impact. If you’d like to learn more about the study or choose to participate, you can do so here.

Thank you for being part of the Sequencing community and for trusting us with something as personal as your DNA. Whether you choose to participate or simply follow along, I hope this gives you the same sense of possibility it gives me - that by removing long-standing barriers to research, we can help bring answers sooner to those who have spent far too long living with uncertainty.

With gratitude,
Brandon

Brandon Colby MD
Founder + CEO
Sequencing