$300,000 Grant to Identify Biomarkers for Hypermobile Ehlers-Danlos Syndrome

The research unit Pain & Interoception led by Prof. Chantal Berna Renella has received $300,000 in funding from The Ehlers-Danlos Society to advance understanding of the biological mechanisms (pathophysiology) underlying hypermobile Ehlers-Danlos syndromes (hEDS) and hypermobility spectrum disorders (HSD). The grant was awarded in 2024 and received in mid-2025, with the project officially starting in early 2026.

hEDS is considered a rare connective tissue disorder and is part of a broader group of complex and often disabling conditions. Currently, no validated biological markers (biomarkers) exist to support diagnosis or guide treatment.

“We are deeply grateful to The Ehlers-Danlos Society for this funding, which enables us to conduct a comprehensive investigation into hEDS and HSD. This grant represents important recognition of our work and will help generate new insights that may improve diagnosis and patient care,” says Prof. Chantal Berna Renella.

What is hypermobile Ehlers-Danlos Syndrome (hEDS) and hypermobility spectrum disorders (HSD)?

hEDS/HSD are connective tissue disorders without a known genetic cause. Diagnosis is based solely on clinical symptoms, which are difficult to apply systematically. This often leads to delayed diagnosis, misdiagnosis, and lack of recognition.

hEDS and HSD can lead to chronic pain, mobility issues, and significant functional incapacity. People also experience a wide range of symptoms and co-morbidities that go beyond their affected joints (e.g., dysautonomia, neuropathic pain, digestive disorders). These symptoms vary greatly between individuals in terms of development, severity, and response to treatment, suggesting the existence of distinct subtypes.

An Innovative Project for the Detection of hEDS/HSD Biomarkers

As part of this international call for projects, Prof. Berna Renella’s unit is conducting a comprehensive prospective evaluation, including in-depth biological and sensory analyses in hEDS/HSD patients and controls. The project includes a collaboration with Prof. Michela Bassolino (School of Health SciencesInstitute of Health) for the study of proprioception.

With the project now underway, the research team plans to acquire half of the patient dataset by mid-2026, marking an important milestone in the study’s progress.

Using Artificial Intelligence to Detect Biomarkers

The study will use advanced analytical methods, including artificial intelligence, to identify biological and sensory patterns associated with hEDS/HSD subtypes. This project represents an important step forward in complex disease research and may pave the way for innovative diagnostic approaches.

Strengthening Research on Complex Diseases

This funding will help strengthen research on hypermobile Ehlers-Danlos syndrome and make a significant contribution to biomedical innovation in the field of complex and multisystem diseases. The project is a key initiative in precision medicine research and in the development of new therapeutic approaches for patients with hEDS/HSD.