Wednesday, 26 September
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14.00–14.30
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Opening Session | |
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14.00–14.15
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Welcome Address | |
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14.15–14.30
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Goals of the Meeting | |
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14.30–17.00
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Session I: Collagen biosynthesis and EDS Chairs: Alain Colige and Fransiska Malfait |
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14.30-14.35
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Introduction | |
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14.35–15.05
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Hans Peter Bächinger Mutation-specific pharmacological chaperones for the treatment of Ehlers-Danlos Syndrome and Osteogenesis Imperfecta? |
(I.1)
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15.05–15.15
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Antti Salo Collagen Prolyl 4-hydroxylases: human disease, mouse models and substrate specificity of isoforms |
(O.1)
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15.15–15.40
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Alain Colige Dermatosparactic and arthrochalasic types of EDS: why are their phenotypes so different? |
(I.2)
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15.40–15.50
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Sandy Ayoub Clinical features, molecular results and management of 11 individuals with arthrochalasia EDS, including follow-up data on 6 adult patients |
(O.2)
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15.50–16.00
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Silvia Morlino 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 |
(O.3)
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16.00–16:10
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Carey Ronspies Severe connective tissue disease and very low bone mineral density without fractures, expanding the phenotype of COL1A2 disorders |
(O.4)
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16.10–16.20
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Andy Willaert Complete loss of α2(I) collagen in zebrafish leads to connective tissue abnormalities, reminiscent of the human cardiac-valvular type of EDS |
(O.5)
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16.20–16.30
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General Discussion | |
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16.30–17.00
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Refreshment break | |
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17.00–17.45
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Key Note Speaker: Karl Kadler Circadian Clock Regulation of the Secretory Pathway: new insights into the Ehlers-Danlos syndrome. |
(I.3)
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18.00–19.30
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Welcome Reception | |
Thursday, 27 September
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08.30–10.30
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Session II: Classical and classical-like EDS Chairs: Clair Francomano and Beat Steinmann |
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8.30–8.35
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Introduction | |
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8.35–9.05
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Dan Greenspan Three decades of research on type V collagen: what have we learned? |
(I.4)
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9.05–9.15
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Neeti Ghali Arterial complications in classical Ehlers-Danlos syndrome. |
(O.6)
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9.15–9.25
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Julie Richer Novel recurrent COL5A1 mutation presenting with diffuse arteriopathy and arterial dissections. |
(O.7)
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9.25–9.35
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Purificación Marin Reina Diagnosis of familial Ehlers-Danlos Syndrome, classic type after a cerebral hemorrhage and misdiagnosis of child abuse. |
(O.8)
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9.35–9.45
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Neeti Ghali A clinical description of 19 identified individuals with classical-like EDS with evidence of serious gastro-intestinal complications. |
(O.9)
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9.45–9.55
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Ulrich Valcourt Tenascin-X regulates TGF-ß signaling in vivo: functional consequences of classical-like EDS. |
(O.10)
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10.00–10.30
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Coffee Break | |
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10.30–12.00
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Session III: Pain and EDS Chairs: Anne-Marie Malfait and Helen Cohen |
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10.30–11.00
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Anne-Marie Malfait Studying chronic pain in murine models. |
(I.5)
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11.00–11.10
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Delfien Syx Pain-related phenotypes in a murine model for classical Ehlers-Danlos syndrome. |
(O.11)
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11.10–11.20
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Lies Rombaut Pain sensitivity, type of pain, and pain distribution in hypermobile Ehlers-Danlos Syndrome: a five year follow-up study. |
(O.12)
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11.20–11.30
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Jane Schubart Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndromes: a retrospective study. |
(O.13)
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11.30–11.40
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Mehmed Novo Multimodal rehabilitation of patients with Ehlers-Danlos syndrome/Hypermobility syndrome and chronic pain. |
(O.14)
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11.40–12.00
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Frank Plasschaert Orthopedic management in EDS |
(I.6)
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12.00–14:30
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Lunch — Boat Tour — Poster Session | |
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14.30–18.00
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Session IV: Hypermobile EDS and Hypermobility Spectrum Disorders Chairs: Alan Hakim and Marco Castori |
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14.30–14.50
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Alan Hakim and Marco Castori Introduction and feedback from the hEDS criteria. |
(I.7)
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14.50–15.00
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Laura McGillis Experience utilizing the 2017 criteria for diagnosis of Ehlers-Danlos syndrome: a Canadian perspective. |
(O.15)
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15.00–15.10
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Casey Rosen Application of the 2017 hypermobile EDS diagnostic criteria in a paediatric population |
(O.16)
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15.10–15.20
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Rodney Grahame Should comorbidities be included in the hEDS criteria? |
(O.17)
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15.20–15.35
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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 |
(O.18)
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15.35–15.45
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General discussion | |
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15.45–16.00
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Refreshment Break | |
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16.00–16.25
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Joel Hirschhorn Identifying genetic defects in hEDS and HSD. |
(I.8)
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16.25–16.35
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Christina Laukaitis Candidate genes for hEDS: initial results of the hEDS gene study. |
(O.19)
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16.35–17.00
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John Oakley EDS and the autonomic nervous system. |
(I.9)
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17.00–17.10
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Julie Huynh Patient-reported symptoms do not differ between people who do and do not meet hEDS criteria. |
(O.20)
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17.10–17.20
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Francis Smith Thorough MRI examination of the cervical spine improving our understanding and management of patients with hEDS. |
(O.21)
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17.20–17.30
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Birgit Juul-Kristensen Generalized joint hypermobility and shoulder hypermobility — epidemiology and physical performance. |
(O.22)
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17.30–17.40
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Mark Scheper Biomechanics of gait and musculoskeletal complaints in children diagnosed with hypermobility syndrome and Ehlers-Danlos Syndrome hypermobility type: an explorative study. |
(O.23)
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17.40–17.50
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Najla Alsiri The impact of Hypermobility Spectrum Disorders on musculoskeletal tissue stiffness: An exploration using strain elastography. |
(O.24)
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17.50–18.00
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Valentien Spanhove The influence of external loading exercise circumstances on glenohumeral translations in hEDS/HSD patients with multidirectional shoulder instability. |
(O.25)
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18.00–20.00
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Poster Session | |
Friday, 28 September
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8.30–12.00
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Session V: Vascular EDS Chairs: Xavier Jeunemaitre and Peter Byers |
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8.30–8.35
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Introduction | |
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8.35–9.05
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Michael Frank Morbidity and mortality in vascular Ehlers-Danlos Syndrome: a long-term cohort study in a single tertiary referral centre. |
(O.26)
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8.50–9.05
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Glenda Sobey Management of vascular EDS – experience in a dedicated multidisciplinary centre. |
(O.27)
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9.05–9.20
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Diana Johnson Vascular EDS in childhood, experience of the UK EDS National Diagnostic Service. |
(O.28)
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9.20–9.35
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Salma Adham Natural history of bowel rupture in vascular EDS: a 17-year retrospective study. |
(O.29)
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9.35–9.50
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Samia Boussouar Prevalence and patterns of lung abnormalities detected by chest CT in patients with vascular EDS. |
(O.30)
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9.50–10:20
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Coffee Break | |
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10.20–10.35
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Neeti Ghali Atypical COL3A1 variants cause a consistent phenotype of tissue fragility and skin hyperextensibility. |
(O.31)
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10.35–10.50
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Cody Hoop Understanding the impact of vascular EDS mutations on collagen III structure, dynamics and function. |
(O.32)
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10.50–11.05
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Tom Van Agtmael ER stress as a mechanism for collagen vascular disorders. |
(O.33)
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11.05–11.20
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Jean-Michaël Mazzella Transmission of genetic information to relatives in vascular Ehlers-Danlos Syndrome. |
(O.34)
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11.20–11.50
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Xavier Jeunemaitre and Fransiska Malfait Mouse models for vascular EDS and preclinical studies. |
— |
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11.50–12.00
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Janine Meienberg Candidate drug testing in a murine model of vascular EDS using biomechanical integrity as novel read-out. |
(O.35)
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12.00–13.00
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Lunch Break | |
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13.00–14.30
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Session VI: Rare EDS types Part I Chairs: Johannes Zschocke and Cecilia Giunta |
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13.00–13.05
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Introduction | |
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13.05–13.30
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Yoshihiru Ishikawa Understanding the effect of a novel missense mutation Met48Lys in FKBP22 on its structure and functions. |
(I.10)
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13.30–14.00
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Roy Morello Sc65-null and P3h3-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA. |
(I.11)
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14.00 –14.10
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Angela Brady A diagnosis of neuromuscular disorder due to homozygosity for PIEZO2 gene variants causing loss of function — an important differential diagnosis for kyphoscoliotic EDS. |
(O.36)
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14.10–14.20
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Delfien Syx Bi-allelic AEBP1 mutations result in a severe form of EDS: expansion of the phenotype based on two novel patients. |
(O.37)
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14.20–14.50
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Refreshment Break | |
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14.50–17.00
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Session VII: Rare EDS types Part II Chairs: Sandrine Gulberti and Tomoki Kosho |
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14.50–14.55
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Introduction | |
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14.55–15.20
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Johannes Zschocke Periodontal EDS and the Complement Pathway. |
(I.12)
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15.20–15.30
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Rebecca Gröbner Periodontal EDS links mutations in the complement 1 subunits C1R and C1S to connective tissue homeostasis. |
(O.38)
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15.30–15.40
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Ines Kapferer-Seebacher Oral manifestations in Ehlers-Danlos syndrome: a systematic review. |
(O.39)
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15.40–15.50
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Tomoki Kosho 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. |
(O.40)
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15.50–16.00
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Takahiro Yoshizawa Pathophysiological investigation of musculocontractural EDS caused by mutations in CHST14 using knock-out mice. |
(O.41)
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16.00–16.10
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Tibbe Dhooge Myopathic EDS: expanding the clinical and mutational spectrum with five new families |
(O.42)
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16.10–16.35
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Florence Ruggiero Zebrafish models for collagen-related diseases: what can they teach us? |
(I.13)
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16.35–16.50
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Sarah Delbaere Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a ZF model for spEDS_B3GALT6. |
(O.43)
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16.50–17.00
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Tim Van Damme Biallelic B3GALT6 mutations cause spondylodysplastic EDS. |
(O.44)
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20.00
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Gala Dinner | |
Saturday, 29 September
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9:00–10.05
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Session VIII: Current Diagnostic Approaches—Possibilities and Challenges Chairs: Paul Coucke |
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9.00–9.05
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Introduction | |
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9.05–9.20
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Delfien Syx Whole exome sequencing: powerful tool for molecular diagnosis in EDS(-like) conditions |
(O.45)
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9.20–9.35
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Carol Rivas Using artificial intelligence to optimize the use of existing data on the hEDS/HSD diagnosis experience. |
(O.46)
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9.35–9.50
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Chloe Angwin Electron microscopy in the diagnosis of EDS: A descriptive study. |
(O.47)
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9.50–10.05
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Sofie Symoens Pre-implantation Genetic Diagnostics for Heritable Connective Tissue Disease. |
(O.48)
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10.00–10.30
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Coffee Break | |
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10:30–12.00
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Session IX: Unmet Needs and Future Directions in EDS Research Chairs: Lara Bloom and Anne De Paepe |
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10:30–10:40
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Emma Reinhold The impact of an online clinical toolkit on EDS for General Practitioners. |
(0.49)
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10.40–10.50
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Pernilla Blom A tool for general practitioners to facilitate diagnosing of suspected cases of hypermobile Ehlers-Danlos Syndrome in family medicine. |
(O.50)
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10.50–11.00
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Leema Robert Development of a multipurpose mobile app for patients with EDS. |
(O.51)
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11.00–11.30
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Lara Bloom, Clair Francomano, Alan Hakim, Sherene Shalhub The EDS Society: PCORI Comorbidity Project, Moonshot Project, Registries. |
—
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11.30–12:00
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Fransiska Malfait, Peter Byers, Anne De Paepe Going forward: animal models, clinical trials… |
—
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12.00–12:30
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Wrap-up and Closing Remarks | |
