Cure Research for Ehlers-Danlos syndrome

Research discussion: The NIAMS is conducting an in-depth natural history study of people who have Marfan syndrome (which leads to abnormally long bones), nail-patella syndrome (a congenital skeletal disorder), Stickler syndrome (which causes eye and joint problems), and Ehlers-Danlos syndrome (which causes skin and blood vessel problems). All of these disorders have multiple, interrelated symptoms. NIAMS scientists are studying these people closely and over a long period to get a more complete picture of the diseases. They hope to improve their understanding of the genetic origins of the symptoms, of disease progression, and of mutations in patients and their relatives. Scientists expect their findings to apply to other HDCTs as well. ¹

The National Human Genome Research Institute is conducting a clinical study of mind-body therapy for chronic pain in people with Ehlers-Danlos syndrome. At the National Eye Institute, research is being supported on alterations in the gene that causes pseudoxanthoma elasticum (PXE) and on which variations cause different signs and symptoms. ¹

Footnotes:
1. excerpt from Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS

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