Wednesday, 26 September
|Goals of the Meeting|
|Session I: Collagen biosynthesis and EDS|
Chairs: Alain Colige and Fransiska Malfait
|Hans Peter Bächinger|
Mutation-specific pharmacological chaperones for the treatment of Ehlers-Danlos Syndrome and Osteogenesis Imperfecta?
Collagen Prolyl 4-hydroxylases: human disease, mouse models and substrate specificity of isoforms
Dermatosparactic and arthrochalasic types of EDS: why are their phenotypes so different?
Clinical features, molecular results and management of 11 individuals with arthrochalasia EDS, including follow-up data on 6 adult patients
A wide spectrum of phenotypes with predominant involvement of the soft connective tissues and pathogenic heterozygous variants in COL1A1/COL1A2 prompts to reconsider the osteogenesis imperfecta/Ehlers-Danlos overlap syndrome
Severe connective tissue disease and very low bone mineral density without fractures, expanding the phenotype of COL1A2 disorders
Complete loss of α2(I) collagen in zebrafish leads to connective tissue abnormalities, reminiscent of the human cardiac-valvular type of EDS
|Key Note Speaker: Karl Kadler|
Circadian Clock Regulation of the Secretory Pathway: new insights into the Ehlers-Danlos syndrome.
Thursday, 27 September
|Session II: Classical and classical-like EDS|
Chairs: Clair Francomano and Beat Steinmann
Three decades of research on type V collagen: what have we learned?
Arterial complications in classical Ehlers-Danlos syndrome.
Novel recurrent COL5A1 mutation presenting with diffuse arteriopathy and arterial dissections.
|Purificación Marin Reina|
Diagnosis of familial Ehlers-Danlos Syndrome, classic type after a cerebral hemorrhage and misdiagnosis of child abuse.
A clinical description of 19 identified individuals with classical-like EDS with evidence of serious gastro-intestinal complications.
Tenascin-X regulates TGF-ß signaling in vivo: functional consequences of classical-like EDS.
|Session III: Pain and EDS|
Chairs: Anne-Marie Malfait and Helen Cohen
Studying chronic pain in murine models.
Pain-related phenotypes in a murine model for classical Ehlers-Danlos syndrome.
Pain sensitivity, type of pain, and pain distribution in hypermobile Ehlers-Danlos Syndrome: a five year follow-up study.
Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndromes: a retrospective study.
Multimodal rehabilitation of patients with Ehlers-Danlos syndrome/Hypermobility syndrome and chronic pain.
Orthopedic management in EDS
|Lunch — Boat Tour — Poster Session|
|Session IV: Hypermobile EDS and Hypermobility Spectrum Disorders|
Chairs: Alan Hakim and Marco Castori
|Alan Hakim and Marco Castori|
Introduction and feedback from the hEDS criteria.
Experience utilizing the 2017 criteria for diagnosis of Ehlers-Danlos syndrome: a Canadian perspective.
Application of the 2017 hypermobile EDS diagnostic criteria in a paediatric population
Should comorbidities be included in the hEDS criteria?
|Lies Rombaut and Inge De Wandele|
The 2017 diagnostic criteria for hEDS: the Ghent data and experience, and a suggestion for refining the new diagnostic criteria for hEDS
Identifying genetic defects in hEDS and HSD.
Candidate genes for hEDS: initial results of the hEDS gene study.
EDS and the autonomic nervous system.
Patient-reported symptoms do not differ between people who do and do not meet hEDS criteria.
Thorough MRI examination of the cervical spine improving our understanding and management of patients with hEDS.
Generalized joint hypermobility and shoulder hypermobility — epidemiology and physical performance.
Biomechanics of gait and musculoskeletal complaints in children diagnosed with hypermobility syndrome and Ehlers-Danlos Syndrome hypermobility type: an explorative study.
The impact of Hypermobility Spectrum Disorders on musculoskeletal tissue stiffness: An exploration using strain elastography.
The influence of external loading exercise circumstances on glenohumeral translations in hEDS/HSD patients with multidirectional shoulder instability.
Friday, 28 September
|Session V: Vascular EDS|
Chairs: Xavier Jeunemaitre and Peter Byers
Morbidity and mortality in vascular Ehlers-Danlos Syndrome: a long-term cohort study in a single tertiary referral centre.
Management of vascular EDS – experience in a dedicated multidisciplinary centre.
Vascular EDS in childhood, experience of the UK EDS National Diagnostic Service.
Natural history of bowel rupture in vascular EDS: a 17-year retrospective study.
Prevalence and patterns of lung abnormalities detected by chest CT in patients with vascular EDS.
Atypical COL3A1 variants cause a consistent phenotype of tissue fragility and skin hyperextensibility.
Understanding the impact of vascular EDS mutations on collagen III structure, dynamics and function.
|Tom Van Agtmael|
ER stress as a mechanism for collagen vascular disorders.
Transmission of genetic information to relatives in vascular Ehlers-Danlos Syndrome.
|Xavier Jeunemaitre and Fransiska Malfait|
Mouse models for vascular EDS and preclinical studies.
Candidate drug testing in a murine model of vascular EDS using biomechanical integrity as novel read-out.
|Session VI: Rare EDS types Part I|
Chairs: Johannes Zschocke and Cecilia Giunta
Understanding the effect of a novel missense mutation Met48Lys in FKBP22 on its structure and functions.
Sc65-null and P3h3-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA.
A diagnosis of neuromuscular disorder due to homozygosity for PIEZO2 gene variants causing loss of function — an important differential diagnosis for kyphoscoliotic EDS.
Bi-allelic AEBP1 mutations result in a severe form of EDS: expansion of the phenotype based on two novel patients.
|Session VII: Rare EDS types Part II|
Chairs: Sandrine Gulberti and Tomoki Kosho
Periodontal EDS and the Complement Pathway.
Periodontal EDS links mutations in the complement 1 subunits C1R and C1S to connective tissue homeostasis.
Oral manifestations in Ehlers-Danlos syndrome: a systematic review.
Structural Alteration of Glycosaminoglycan Side Chains and Spatial Disorganization of Collagen Networks in the Skin of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by CHST14/D4ST1 Deficiency.
Pathophysiological investigation of musculocontractural EDS caused by mutations in CHST14 using knock-out mice.
Myopathic EDS: expanding the clinical and mutational spectrum with five new families
Zebrafish models for collagen-related diseases: what can they teach us?
Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a ZF model for spEDS_B3GALT6.
|Tim Van Damme|
Biallelic B3GALT6 mutations cause spondylodysplastic EDS.
Saturday, 29 September
|Session VIII: Current Diagnostic Approaches—Possibilities and Challenges|
Chairs: Paul Coucke
Whole exome sequencing: powerful tool for molecular diagnosis in EDS(-like) conditions
Using artificial intelligence to optimize the use of existing data on the hEDS/HSD diagnosis experience.
Electron microscopy in the diagnosis of EDS: A descriptive study.
Pre-implantation Genetic Diagnostics for Heritable Connective Tissue Disease.
|Session IX: Unmet Needs and Future Directions in EDS Research|
Chairs: Lara Bloom and Anne De Paepe
The impact of an online clinical toolkit on EDS for General Practitioners.
A tool for general practitioners to facilitate diagnosing of suspected cases of hypermobile Ehlers-Danlos Syndrome in family medicine.
Development of a multipurpose mobile app for patients with EDS.
|Lara Bloom, Clair Francomano, Alan Hakim, Sherene Shalhub|
The EDS Society: PCORI Comorbidity Project, Moonshot Project, Registries.
|Fransiska Malfait, Peter Byers, Anne De Paepe|
Going forward: animal models, clinical trials…
|Wrap-up and Closing Remarks|