Thats Dr Byers at WA EDU. The leading expert on Vascular EDS.
Hon, do you know what he can screen for? Vascular, I assume… Marfans? Loeys-Dietz? Athrochalasia form? etc? As most of you know, a HUGE number of us suffer from the “Hypermobility form” or the “Classical form”. There has never been a collagen disorder found for Hypermobility type, nor for about 50% of the Classical form. I don’t think there is a genetic defect in collagen (you heard it here first, and you heard me right!). Nope, I think it has become a “dumping ground” for anything that results in joint hypermobility — some of it is treatable, I believe. That is where much of my research is focused. It is CRITICAL to rule out vascular, etc., and I’m trilled they can do this! Has anyone tried to do this with their 23andme yet? I wonder if those forms are in there… Thanks so much! 😉
The Collagen Diagnostic Laboratory (CDL) is housed in the Department of Pathology at the University of Washington, Seattle, WA. The CDL offers diagnostic testing for osteogenesis imperfecta (OI), several forms of Ehlers-Danlos syndrome (EDS), and select other connective tissue disorders. We also provide consultation for clinicians and families with questions on these rare disorders, review x-rays and clinical history, and offer research testing and enrollment in research studies.
Byers is the researcher who found the mutations that causes VEDS. Brilliant man.