This page is dedicated to the Ehlers-Danlos Syndrome (EDS) research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
This cohort, established at Boston Children’s in 2019, is led by Drs. Joel Hirschhorn and Joan Stoler, and has enrolled more than 50 patients and their families.
Concordia Professor of Pediatrics and Professor of Genetics, Harvard Medical School
Disease information
Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders that affect the connective tissues. Most children with EDS have hypermobile joints that are prone to full or partial dislocation. Learn more about EDS at Boston Children’s.
Key outcomes
To date, 4 percent of patients have had a change in treatment plans. An analysis core has been developed to generate genome sequencing data for about 1,000 families with EDS. and an invited talk by Dr. Hirschhorn at the American College of Medical Genetics 2021 annual meeting.
Investigators
Joel Hirschhorn, MD, PhD, and Joan Stoler, MD
Division
Disease support organizations
Annabelle's Challenge
Annabelle’s Challenge is a leading organization for information and advice on vascular Ehlers-Danlos syndrome (vascular EDS), aiming to promote awareness and medical research into vascular EDS.
Ehlers-Danlos Society
The Ehlers-Danlos Society is a global organization dedicated to advancing and accelerating research and education in Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). The organization supports the development of effective and equitable EDS and HSD therapies and works collaboratively to improve the lives of individuals affected by EDS and HSD.
The Zebra Network
The Zebra Network is a nonprofit organization that provides awareness, advocacy, education, and support for patients with Ehlers-Danlos syndrome.