- To bring attention to the public and health care professionals that Ehlers-Danlos syndrome is one of the most common, misunderstood, unrecognized and under-appreciated genetic disorders that has a myriad of lifetime health consequences from birth until death.
- To continue our Ehlers-Danlos Clinical Research Program at Boston University School of Medicine to identify gene mutations that are associated with this autosomal dominant genetic disorder. Results from these studies will provide a better insight for how to treat and mitigate many of the health problems associated with this disorder. The goal is to that by understanding the genetics of this disorder that molecular biology techniques can be developed to treat and ultimately cure Ehlers Danlos syndrome hypermobility type.
- To educate those with Ehlers-Danlos syndrome hypermobility type about the myriad of medical symptoms and medical conditions that are associated with this genetic disorder. To provide information of treatment therapies and options to deal with different clinical manifestations of Ehlers-Danlos syndrome hypermobility type.
- To assist families with Ehlers Danlos syndrome hypermobility type and alert them to many of the associated medical conditions including joint issues , skeletal fragility and easy bruisability in order to avoid accidental trauma
- To alert pregnant women with this genetic disorder that they have a high risk pregnancy and to develop methodology for prenatal testing for this genetic disorder.
Ehlers-Danlos Syndrome Clinical Research Program
Based at Boston University School of Medicine and led by Dr. Michael F. Holick, our program fills a critical void for EDS patients. This dedicated clinic and its associated clinical research program include experts who diagnose, treat, and study the syndrome.
What we do:
- Pursue path-breaking clinical research into the genetic basis of the syndrome
- Create a diagnostic genetic panel for the syndrome
- Study the efficacy of available treatments
- Work ceaselessly toward a cure