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

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 Colby MD
Founder + CEO
Sequencing

 

Your DNA Could Help Advance Research into Hypermobile Ehlers-Danlos Syndrome (hEDS) and Dysautonomia

Hypermobile Ehlers-Danlos syndrome (hEDS) is a complex, historically underdiagnosed condition that has long lacked large-scale genetic research. Because symptoms can vary widely and overlap with other conditions, many people spend years navigating inconclusive tests and repeated doctor’s appointments without clear answers.

Whole genome sequencing (WGS) offers a different approach. By analyzing nearly all of your DNA, data that remains constant throughout your life, WGS provides a deeper, lifelong view of genetic variation that researchers can study to better understand complex conditions like hEDS and Dysautonomia.

To help advance this work, Sequencing.com is launching a collaboration with the Norris Lab at the Medical University of South Carolina (MUSC) to study the genetic landscape of hypermobile Ehlers-Danlos Syndrome and Dysautonomia at scale. 

“Our collaboration with the Norris Lab creates a powerful, direct bridge between individuals who have their genome sequenced and the leading scientists who need that data to make breakthroughs,” says Sequencing.com Founder and CEO, Dr. Brandon Colby, MD. “Sequencing is proud to support this research by coordinating this data access at no cost. I suffer from a rare disease myself, and the faster we can help people receive a diagnosis, the faster they can receive proactive and, in some cases, preventive medical care.”
 

Largest Genetic Study of hEDS and Dysautonomia to Date

Understanding complex conditions like hEDS requires research at a scale that has been historically difficult to achieve. This study aims to analyze the genomes of  10,000 affected individuals and up to 30,000 controls.

If you're already a Sequencing customer with whole genome sequencing data, you can join the study to contribute your anonymous genetic data directly to the Norris Lab.

If you haven’t yet been sequenced, you can order a Whole Genome Sequencing kit and choose whether to participate once your data is available. No waiting years for researchers to recruit participants or secure funding.

Why Large-Scale Genetic Studies Matter

Many rare diseases are influenced by multiple genetic factors rather than a single gene. Large-scale datasets allow researchers to identify shared patterns, uncover rare variants, and study how multiple genetic factors interact, an essential step in understanding complex conditions like hEDS and Dysautonomia.  

Whole Genome Sequencing and Blood Tests: How They Compare

Most health tests provide a snapshot of what’s happening in your body at a single point in time. Blood tests, for example, can be influenced by temporary factors like diet, stress, or illness. While valuable, they don’t capture the full picture of long-term risk or genetic  predisposition.

Whole genome sequencing (WGS) is different. Your DNA remains constant throughout your life, making it a stable foundation for understanding your health. By analyzing nearly all 3 billion data points in the genome, WGS helps researchers study how genetic variation influences disease risk, medication response, and your  unique health traits.

Sequencing and The Norris Lab Collaboration

Sequencing’s role: We provide the platform for you to opt in to share your anonymous data with researchers. We're coordinating this data access at no cost to the Norris Lab. All data shared with the Norris Lab is handled in accordance with strict privacy standards, including HIPAA compliance and international data privacy protocols. Sequencing.com does not sell genetic data and does not influence how the Norris Lab conducts or interprets its research.

The Norris Lab's role: This multidisciplinary research team conducts independent research analysis. Led by Dr. Russell "Chip" Norris, PhD, the lab integrates basic science, genetics, and clinical research to uncover the molecular mechanisms driving these conditions.

Designed for Transparency: There is no financial exchange between Sequencing and the Norris Lab. We do not direct or influence their research findings. Our role is simply to facilitate access to data that can help advance scientific understanding.

How to Participate

If you already have WGS data: Opt-in to contribute your anonymous genetic data directly through your mobile device or computer.

If you're new to WGS: Customers who purchase a whole genome sequencing kit can also join this research effort. Participation is entirely voluntary, and your privacy is protected every step of the way. Data from participants who join will be handled according to strict privacy standards, including HIPAA compliance, with all data made fully anonymous.

Important to Know

This is exploratory research, not a diagnostic test. Your anonymous data is used for large-scale genetic analysis to understand patterns across thousands of participants. Individual results or diagnoses are not provided to participants through this research collaboration.

This research has the potential to uncover genetic insights that could inform future diagnostics and therapies, but we cannot promise specific outcomes or timelines. Large-scale genetic studies like this are essential first steps in understanding complex diseases.

Ready to Make an Impact on hEDS Research?

Your genes shape your future, but they are not your destiny. Understanding your complete genetic story allows you to take action, for yourself and for countless others still searching for answers.

You can learn more about  the Sequencing’s collaboration with the Norris Lab, including FAQs, and choose to take part in the largest EDS study conducted to date.