The Norris Lab GWS Study

The Norris Lab, located in Charleston, SC, is a research lab that frequently hosts interns who have lived experience with disabling conditions and collaborate to gain perspective and advancements in the areas of Ehlers-Danlos Syndrome (EDS) and cardiovascular disease. Several recently associated gene markers have shown promise for their relation to hEDS.

Gene variants in the ACKR3 (chromosome 2) region, SLC39A13 gene, and PSMC3 gene were shown to have significant correlation.

• The ACKR3 gene is expressed in many places throughout the body, such as the heart, nervous system, the glial cells in the brain, blood vessels, kidneys, bone marrow, and the tibial nerve – where it has recently been shown to affect neuroimmune and pain signaling pathways. This correlates to symptoms those with EDS experience, such as pain throughout the body and neuroinflammation (brain fog). Mutations in this gene were also previously correlated to cardiovascular disease and blood cancers, as well.
• The SLC39A13 gene is a zinc transporter that regulates zinc distribution into the cells, essential for transforming growth factor-beta (TGF-beta) signaling and connective tissue maturation. It is also a known cause of the spondylodysplastic form of Ehlers-Danlos syndrome (SCD-EDS), which can cause short stature, blue sclerae (in the eyes) and skeletal abnormalities (such as scoliosis).
• The PSMC3 gene was also implicated as a cause for hEDS. It is inovlved in the development of the central nervous system and has a role in immune function. Mutations in the gene have shown to cause an accumulation of proteins in cells throughout the body. The gene has been associated with neurodevelopmental disorders, stroke, and autoimmune disorders due to a heightened type 1 interferon response (which is triggered during infections). Definitely something to think about due to the high prevalence of autism, ADHD and autoimmune conditions in the hEDS community.

Petrucci-Nelson, T., Guilhaumou, S., Berrandou, T.E., Gensemer, C., Georges, A., Huff, M., Fustier, M.A., Esmael, A., Henry, J., Jaye, O., Phookan, R., Dooley, S., Byerly, K., Loizzi, B., Fenner, R., Mach, E., Weintraub, A., Daylor, V., Weninger, J., … Norris, R.A. (2025). Complex Genetics and Regulatory Drivers of Hypermobile Ehlers-Danlos Syndrome: Insights from Genome-Wide Association Study Meta-analysis. medRxiv [Preprint]. https://doi.org/10.1101/2025.09.19.25336146.