With your help, The Ehlers-Danlos Society and our affiliated scientific researchers and medical professionals are preparing the next phases of Ehlers-Danlos research. We are determined to bring hope to those living with Ehlers-Danlos syndromes and related disorders. With each new discovery, their lives and the lives of their families will improve through better, more consistent diagnosis, management, and care.
Our strength begins with hope. And our hope begins with you.
Donating to our research fund is easy. Go to our donation page by clicking here, and choose “Research Fund” from the designation menu. Your designated gift will be put into a secured research fund (verified through yearly independent financial audit), and only used to support research initiatives such as those described below. Any amount helps, and on behalf of those of us with EDS, deeply appreciated.
There has never been an international registry for the Ehlers-Danlos syndromes and related disorders. Establishing the Ehlers-Danlos International Registry is our most urgent research goal.
The overall goal of the EDS International Registry is to develop a useful, international research data tool of a group of people with EDS that is as large as possible, in order to study many aspects of the Ehlers-Danlos syndromes, including:
- incidence for all types
- distribution in the population
- changes over time in EDS patients
- associated conditions and symptoms
- learn more about the rare types
- find the gene(s) responsible for hypermobile EDS
- discover more genes and types of EDS
- and whatever else is revealed in the collected data.
The registry will partner with a lab to provide a low-cost option to our patients for whole genome (discovery) and whole exome (EDS panel for known forms) sequencing. This will be done through an approved clinic to provide consistent data for analysis.
How it will work
The Society is raising $500,000 to cover five years of expenses for hosting and management of the registry.
All other functions and decisions (including which data is collected and how it will be accessed) are being carried out by our independent Medical and Scientific Board, in conjunction with The International Consortium on Ehlers-Danlos Syndromes and Related Disorders, and the specialized scientists involved in data analysis.
Please help us build and maintain this critical foundation for research into the Ehlers-Danlos syndromes and conditions associated with them.
What is a patient registry?
A patient registry is a collection of standardized information about a group of patients who share a condition or experience.
“Patient registries have traditionally been researcher-generated. Research institutions, academic clinical institutions, or individual research teams establish a registry, using private or Federal funds, for the purpose of observational data collection that can be used for a specific research agenda. These registries may be organized and operated in a variety of forms and formats. They may be operated by a single institution or by a collaborative of multiple institutions or clinics. Researcher-generated patient registries currently exist for a wide range of chronic or rare conditions.
“Patient registries can also be used to monitor outcomes and study best practices in care or treatment. They may pursue a specific, focused research agenda, collecting data for a limited time to answer a specific research question (or questions), or may collect data on an indefinite basis to answer a variety of existing and emerging research questions. Patient registries may also include the collection of tissue or blood samples collected in a variety of ways.”
There are thirteen types of EDS—and we have identified the molecular mutation for all of them except for the most prevalent, the Hypermobile type. We desperately need to fund the research that will uncover the genetic mutation(s) underlying hypermobile EDS to improve its diagnosis, management, and care.
Research is at the core of what we do. However, despite advances in technology, collaborative research, especially in the area of rare disorders, can be difficult.
Nearly every leap in Ehlers-Danlos research, nosology, and management has been the direct result of the connections facilitated by international gatherings of the world’s top researchers and medical professionals.
Through the open exchange of findings, ideas, and disagreements, we’ve seen extraordinary progress in our understanding of Ehlers-Danlos—and its relationship with countless related disorders. From our March 2016 International Symposium in New York, attended by over 200 of the world’s top Ehlers-Danlos researchers and medical professionals—to the subsequent gatherings of the International Consortium throughout the world—each meeting of the minds has led to positive advances in the study of EDS and HSD, culminating in the publication of a new International Classification and eighteen new papers in the American Journal of Medical Genetics in March 2017.
Through the consistent support of our major donors, The Ehlers-Danlos Society seeks to continue facilitate medical symposia and professional training on a regular and worldwide basis. From travel grants to presentation technology, every gift counts toward the advancement of Ehlers-Danlos research.
Project Oversight and Approval
Our research projects are overseen and approved by our Medical and Scientific Board, with advice from The International Consortium on Ehlers-Danlos Syndromes and Related Disorders.