• Welcome to Phoenix Rising!

    Created in 2008, Phoenix Rising is the largest and oldest forum dedicated to furthering the understanding of, and finding treatments for, complex chronic illnesses such as chronic fatigue syndrome (ME/CFS), fibromyalgia, long COVID, postural orthostatic tachycardia syndrome (POTS), mast cell activation syndrome (MCAS), and allied diseases.

    To become a member, simply click the Register button at the top right.

hEDS: the causal genetic mutation may have been identified!

Zebra

Senior Member
Messages
915
Location
Northern California
If you have an interest in the inherited connective tissue diseases, such as Ehlers Danlos, then you probably already know that the hypermobility type (hEDS) has lacked a genetic marker for far too long. (The genetic mutations for the other 12 subtypes have been identified and can be tested for at the clinical level.)

Researchers at Medical University of Southern Carolina claim they have identified the genetic defect associated with hEDS and they will soon be publishing their findings. If anyone comes across this paper, I hope you will share it here.

This could be HUGE for so many people looking for a definitive diagnosis or confirmation of the condition.

See article:
https://web.musc.edu/about/news-cen...n-discovery-associated-with-eds-ehlers-danlos
 
Back