Science Resources

Scientific Resources

🧬 Biological & Mechanistic Research (hEDS)

Title	Authors	Short Description	Link
Rare and Common Genetic Variants in hEDS	Courtney Gensemer et al. (Norris Lab)	Identifies both rare and common variants contributing to hEDS risk, shifting focus beyond structural collagen genes toward regulatory and signaling pathways (including KLK involvement).	View here
Proteomic Signatures in Hypermobile EDS	Courtney Gensemer et al.	Proteomic analysis demonstrating immune, inflammatory, and extracellular matrix protein alterations in hEDS cohorts.	View here
Global Multisystem Burden in hEDS/HSD	Matthew Daylor et al.	Large international survey highlighting multisystem symptom burden, diagnostic delay, and healthcare impact.	View here
Phenotypic Clustering in hEDS/HSD	Marco Castori et al.	Identifies multimorbidity clusters and proposes refined clinical phenotyping models for hEDS/HSD.	View here

🫀 Autonomic Dysfunction & POTS

Title	Authors	Short Description	Link
Prevalence of Hypermobile EDS in POTS Cohorts	Peter C. Rowe et al.	Demonstrates significant overlap between hypermobility spectrum disorders and autonomic dysfunction in POTS populations.	View here
Pathophysiology of POTS: A Systems Review	Satish R. Raj et al.	Comprehensive review of autonomic, immune, vascular, and endocrine contributors to POTS.	View here
Patient Experience & Diagnostic Journey in POTS	Blair P. Grubb et al.	Qualitative and clinical analysis of lived experience, delayed diagnosis, and healthcare navigation barriers.	View here

🌍 Long COVID & Multisystem Overlap

Title	Authors	Short Description	Link
Autonomic Dysfunction in Long COVID	William B. Stiles et al.	Identifies high rates of POTS-like syndromes and dysautonomia following SARS-CoV-2 infection.	View here
Long COVID and Hypermobility Spectrum Disorders	Alan Hakim et al.	Explores increased susceptibility to prolonged post-viral syndromes in hypermobile populations.	View here
Shared Immune and Autonomic Mechanisms in Long COVID	David Systrom et al.	Investigates immune dysregulation, endothelial dysfunction, and impaired oxygen extraction in Long COVID patients.	View here

🧠 Neurodivergence & Connective Tissue (Emerging Area)

Title	Authors	Short Description	Link
Joint Hypermobility and Neurodevelopmental Traits	Jessica Eccles et al.	Reviews associations between hypermobility, anxiety, ASD traits, and autonomic dysregulation.	View here
Hypermobility in Females with Autism Spectrum Conditions	Jessica Eccles et al.	Highlights under-recognition of connective tissue features in female neurodivergent populations.	View here

🏥 Clinical Communication & Systems Innovation

Title	Authors	Short Description	Link
Structured Symptom Reporting in Rare & Complex Disease	Eric Topol	Discusses structured patient-reported data and AI-supported pattern recognition in complex care.	View here
Improving Diagnostic Accuracy Through Structured Consultation	Gurpreet Dhaliwal et al.	Examines cognitive bias reduction and structured clinical reasoning frameworks.	View here

Latest Research (Updated Monthly)

This page is updated monthly to reflect emerging peer-reviewed research relevant to hypermobile Ehlers-Danlos Syndrome (hEDS), POTS, Long COVID, neurodivergence, and related multisystem conditions.

For research suggestions or submissions, please contact:
📧 admin@connectedhealth.au