Genes

Digital graphic with a dark blue DNA helix and bold text reading ‘Update on gene linked to hypermobile EDS’ on a light blue background

Update On Gene Linked to Hypermobile EDS

A new study, led by Dr. Cortney Gensemer, marks a genetic breakthrough in hEDS research. The KLK15 variant (p.Gly226Asp) has been identified as a direct disease-causing gene in hypermobile EDS, causing connective tissue dysfunction and immune system dysregulation.

A microscope view of a cell in purple, green and yellow.

Researchers Found New Possible Causative Gene For HEDS: MIA3

Exciting news from Poland! Researchers from the Department of Clinical Genetics at Nicolaus Copernicus University in Torún, Poland, released a preprint of research that may hold the answers to the cause of hypermobile Ehlers-Danlos Syndrome (hEDS) for a part of the patient population. Specifically, Junkiert-Czarnecka et al. investigated the MIA3 gene in people with hEDS […]