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The Ehlers-Danlos Syndrome
Clinical Research Program

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About the EDS Research Program

Our Team

Led by Michael F. Holick , Ph.D., M.D., Professor of Medicine, Physiology, and Biophysics and a recognized leader in the diagnosis and treatment of Ehlers-Danlos Syndrome (EDS), the program fills a critical void for patients. Based at Boston University School of Medicine, this dedicated clinic and its associated clinical research program include experts who diagnose, treat, and study the syndrome.

Thanks to our most generous benefactors our Ehlers Danlos Syndrome Clinical Research Program has made significant progress in helping patients deal with the myriad of clinical symptoms associated with this genetic disorder.

The generous contributions have also been instrumental in helping us uncover the secret as to which genes are responsible for the pain and suffering that children and adults often experience with this autosomal dominant genetic disorder.

Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is a group of hereditary connective tissue disorders caused by faulty or insufficient collagen and/or elastin. These disorders mainly affect the skin, bones, joints, blood-vessels, heart, nervous system and immune system among others.

Signs / Symptoms

  • Loose joints—causing joint dislocations and destruction
  • Poor blood pressure control, orthostatic hypotension and postural orthostatic tachycardia syndrome (POTS)
  • Fagility Fractures
  • Disc dislocations and destruction
  • Fragile, thin, elastic skin with atrophic scarring
  • Easy bruising due to capillary fragility
  • Click murmur syndrome and arrhythmias
  • Dysautonomia causing hypersensitivity to the surrounding environment
  • Regional pain and global chronic pain syndrome
  • Gastroparesis
  • Altered immune system
  • Vestibular balance abnormalities
  • Dental crowding
  • Temporomandibular joint problem

What We Do:

Provide individualized, state-of-the-art care from preeminent physicians
Pursue pathbreaking clinical research into the genetic basis of the syndrome
Study the efficacy of available treatments
Work ceaselessly toward a cure

Our milestone accomplishments for the past year include:

  • Exploring New Approaches for Helping to Stabilize Lax and Unstable Joints.
  • Developing Novel Treatment Strategies for Symptoms Associated with Dysautonomia.
  • Strategies to Relieve Symptoms and Treatment for Postural Orthostatic Tachycardia Syndrome.
  • Exploring Methods for Minimizing Symptoms of Gastroparesis.
  • Evaluating surgical strategies to stabilize problematic joints associated with debilitating pain.

Assessing Joint Hypermobility


DNA collection by buccal swab

Our Current Study

Using cheek swabs or blood from families with a history of hypermobile EDS (also known as hEDS or EDS Type III), we are collecting DNA for next-generation sequencing. We completed analyzing the data of next-generation sequencing in 26 subjects and we are trying to confirm the results by using Sanger sequencing. Our promising preliminary results showed several gene variations were associated with bone fracture, tendon-ligament injury, muscle pain (myalgia) and skin fragility in the EDS patients.

A four-color chromatogram showing the results of the sequencing

Our goal: To identify the gene mutations associated with EDS type III that cause this common genetic disorder. We plan to create a diagnostic genetic panel for hEDS.
Our challenge: Genetic evaluation is costly. With so many patients now realizing they have EDS, we are currently collecting more than 300 DNA samples from affected and unaffected family members. In order to conduct the expensive genetic analysis in all of the samples we can only do it with your help.


How You Can Help

Your support will help the BUSM EDS Program keep doing innovative research that explores new treatments and may one day lead to a cure. It will enable us to give our patients hope regarding new treatments, as well as strategies they can use now to improve their quality of life.

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If you would like to make a gift of stock or send a gift via wire transfer, please contact BUSM Office of Development, Maura Coakley

The University has a secure lock box with a financial institution in New York, so all gifts can be mailed to

Boston University Development
PO Box 22605
New York
NY 10087-2605

We also have a dedicated URL where your generous donation will be transferred to our Ehlers-Danlos Clinical Research Program.

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