New Genetic Patterns Linked to Hypermobile EDS Found

Researchers uncover potential polygenic basis for common connective tissue disorder

Published on Feb. 11, 2026

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Researchers from Boston University have used machine learning and genomic analysis to identify genetic variations in three key biological systems that may contribute to hypermobile Ehlers-Danlos syndrome (hEDS), one of the most common heritable connective tissue disorders. The findings provide new insights into the molecular basis of hEDS and could lead to improved diagnostic and treatment strategies for the condition, which affects up to 3% of the global population.

Why it matters

hEDS is a poorly understood genetic disorder that causes joint hypermobility, tissue fragility, and other debilitating symptoms. Despite its prevalence, the underlying genetic causes have remained largely unknown. This research represents a significant step forward in unraveling the complex genetic architecture of hEDS, which could pave the way for better clinical management and personalized treatment approaches for affected individuals.

The details

The researchers analyzed genetic data from 116 people, including 86 patients diagnosed with hEDS and 30 unaffected family members. Using machine learning techniques, they identified a significantly higher burden of rare genetic variants in three key biological areas among hEDS patients: the collagen biosynthesis pathway, the HLA/adaptive immune axis, and the mitochondrial respiratory chain. These findings suggest that hEDS may be a polygenic disorder, involving the combined effects of variations in multiple genes rather than a single genetic defect.

  • The research was conducted at Boston University Chobanian & Avedisian School of Medicine.

The players

Michael F. Holick

Professor of medicine, pharmacology, physiology & biophysics and molecular medicine at Boston University Chobanian & Avedisian School of Medicine and the corresponding author of the study.

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What they’re saying

“Hypermobile Ehlers–Danlos Syndrome represents 80-90% of all EDS cases, yet the vast majority remain undiagnosed due to lack of awareness among healthcare providers and the absence of a definitive genetic test.”

— Michael F. Holick, Professor of medicine, pharmacology, physiology & biophysics and molecular medicine (Genes)

What’s next

The researchers stress that these findings represent baseline genetic data that prioritize hypotheses for future in-depth investigation, rather than established disease mechanisms. Further research is needed to fully elucidate the complex genetic basis of hEDS and translate these insights into improved diagnostic and therapeutic strategies.

The takeaway

This study represents a significant advancement in our understanding of the genetic underpinnings of hypermobile Ehlers-Danlos syndrome, a common and often debilitating connective tissue disorder. By uncovering potential polygenic factors contributing to hEDS, the researchers have laid the groundwork for more personalized approaches to diagnosing and treating this complex condition.