FROM GENETICS TO MANAGEMENT
TOMOKI KOSHO, CONFERENCE CHAIR
We are delighted to invite you to the Scientific Meeting on the Rarer Types of Ehlers-Danlos Syndromes, in Tokyo, Japan on 18–19 November 2019.
Scientific Meeting on the Rarer Types of Ehlers-Danlos Syndromes is a professional scientific meeting on Ehlers-Danlos syndrome (EDS) for healthcare providers and researchers, in which cutting-edge research on clinical advances and the molecular and pathogenic mechanisms of mainly rare types of EDS is discussed. We offer a high-quality scientific program with the general theme, “Rarer types of EDS: from genetics to management.” World-leading invited speakers will talk on the newest medical and scientific achievements on proteoglycan defect-related EDS, TNXB-related classical-like EDS, dermatosparaxis EDS, and periodontal EDS, also on the current topics about major molecularly-confirmed types, classical EDS, and vascular EDS. The meeting welcomes abstracts for oral or poster presentation on any relevant topics about rarer types of EDS, also classical or vascular type, including clinical investigation on EDS (e.g. genotype/phenotype correlations; natural history and disease manifestations), molecular breakthrough on EDS (e.g. novel gene for EDS), pathophysiology on EDS (e.g. novel biochemical, pathological, or physiological mechanisms in EDS typically using patients’ samples), animal models on EDS (e.g. KO mice), and therapeutic challenges for EDS (e.g. clinical study; basic investigation).
We strongly encourage clinicians and researchers with an interest in the Ehlers-Danlos syndromes to attend this meeting. We expect 250 delegates and key opinion leaders in the field from around the world to attend. The multidisciplinary nature of the conference provides an opportunity to talk to specialists from many different fields including basic scientists, geneticists, internists, orthopedic and vascular surgeons, dentists, pediatricians, physiotherapists, genetic counselors, nurses, representatives of patient support groups, and many others working with Ehlers-Danlos syndromes.
- An exciting program of invited speakers and lectures featuring some of the leading experts in the field;
- Presentation of talks chosen from submitted abstracts;
- A well-attended poster session with local gastronomic treats.
We hope that you will join us from all over the world, especially from Asia, for an exciting meeting with enthusiastic discussions about cutting-edge clinical medicine and basic science related to the Ehlers-Danlos syndromes. Come and participate in an interactive meeting in cool Tokyo!
Tomoki Kosho, MD, PhD, Conference Chair
Department of Medical Genetics, Shinshu University School of Medicine
Center for Medical Genetics, Shinshu University Hospital
Hotel Sunroute Plaza Shinjuku
2-3-1 Yoyogi, Shinjuku-ku
151-0053 Tokyo, JAPAN
November 18 (Monday)
Welcome address: Lara Bloom, Fransiska Malfait, Tomoki Kosho
Intro/Goals of the Meeting: Tomoki Kosho
Session 1: Classical EDS and related subtypes
Chair: Clair Francomano and Shujiro Hayashi
Delineating Ehlers-Danlos syndrome, the classical subtype: molecular and clinical characteristics of a large patient cohort.
Intrafamilial variability in a 3-Generation family with COL5A1-associated classical Ehlers-Danlos syndrome.
Discovery of AEBP1-related Ehlers-Danlos syndrome, expansion of understanding of EDS & related disorders.
12:00-14:00 Lunch Break and Poster Session
Session 2: Vascular EDS
Chair: Peter Byers and Hiroko Morisaki
Vascular EDS: General aspects and recent advancement.
Clinical features in adolescence among genetically confirmed vascular Ehlers-Danlos syndrome in Japanese: A retrospective study.
Clinical sequencing for vascular Ehlers-Danlos syndrome using panel-based next-generation sequencing.
Three vascular type of Ehlers-Danlos syndrome patients without family history, who experienced gastrointestinal perforation.
Characteristic electron microscopy findings of vascular Ehlers–Danlos syndrome for helpful of diagnosis.
15:30-16:00 Coffee Break
Session 3: Classical-like EDS
Chair: Ken-ichi Matsumoto
Tenascin-X: A causative gene of classical-like EDS.
Mechanical allodynia in tenascin-X-deficient mice associated with the Ehlers-Danlos syndrome.
Session 4: Periodontal EDS
Chair: Peter Byers
18:00-21:00 Welcome Dinner
November 19 (Tuesday)
Session 5: Proteoglycan defect-related EDS
Chair: Tomoki Kosho and Shuji Mizumoto
Proteoglycan defect-related EDS.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by variants in CHST14 (mcEDS-CHST14).
Delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE).
Skin and vascular abnormalities in CHST14 gene-deleted mice, an animal model of musculocontractual Ehlers-Danlos syndrome.
CRISPR/CAS9-mediated development and characterization of knockout mice for musculocontractural type Ehlers-Danlos syndrome caused by mutations in CHST14 (mcEDS-CHST14).
Loss of galactosyltransferase II, encoded by B3GALT6, causes musculoskeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome and reveals the presence of a trisaccharide proteoglycan linker region.
10:45-11:15 Coffee Break
Session 6: Other rare types
Chair: Johannes Zschocke
Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum.
ZNF469 heterozygous state found in nine patients with classical Ehlers-Danlos syndrome but without brittle cornea syndrome suggests a dominant expression for some ZNF469 genetic abnormalities.
12:00-14:00 Lunch Break and Poster Session
Session 7: Quality of Life
Chair: Clair Francomano and Clare Green
Genetic counselling in families with rare types of EDS.
Comprehensive study on pregnancy, childbirth, and childcare of women with Ehlers-Danlos syndromes.
Psychosocial adjustment and quality of life of people with vascular Ehlers-Danlos syndrome: A comparative study.
Closing Remarks: Lara Bloom, Fransiska Malfait, Tomoki Kosho
(For guidance on posters, please see our scientific poster guidelines.)
Testing outcomes of an exome-based panel for Ehlers-Danlos syndrome.
Rare case reports
The management of peripheral arterial dissection on extremities: A case report of vascular Ehlers-Danlos syndrome.
A novel biallelic mutation in the COL12A1 gene by a next-generation sequence revealed myopathic EDS－ A case report.
A case report: Pregnancy-related complications in woman with Ehlers-Danlos syndrome with biallelic variant in AEBP-1.
Intestinal ischemia in a 61-years-old man with classical-like Ehlers-Danlos syndrome.
A case report of Ehlers-Danlos syndrome patient with craniofacial anomaly and severe enamel hypoplasia.
Transvestism recognized in Ehlers-Danlos syndrome: Report of two cases.
Otological features in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in CHST14 (mcEDS-CHST14).
Radiological features of hands, feet, and pelvis in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in CHST14 (mcEDS-CHST14).
Conformational structure of glycosaminoglycan chains in dermis revealed by Ehlers-Danlos syndrome.
Pathophysiological investigation for large subcutaneous hematomas of Ehlers-Danlos syndrome using patient induced pluripotent stem cells.
Structural change of decorin from dermatan sulfate to chondroitin sulfate affects type I collagen fibril reconstitution.
Whole genome sequencing in a cat with Ehlers–Danlos syndrome.
Shinshu University School of Medicine, Center for Medical Genetics, Nagano, Japan
The Ehlers-Danlos Society
President and CEO
Greater Baltimore Medical Center, Baltimore, Maryland, USA
University of Washington, Seattle, Washington, USA
The Platinum Medical Centre, The Wellington Hospital, London, UK
Shujiro Hayashi, PhD
Dokkyo Medical University, Mibu, Japan
Ghent University Hospital, Ghent, Belgium
Shimane University, Izumo, Japan
Meijo University, Nagoya, Japan
Department of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria
Tokyo, Japan’s busy capital, mixes the ultramodern and the traditional, from neon-lit skyscrapers to historic temples. The opulent Meiji Shinto Shrine is known for its towering gate and surrounding woods. The Imperial Palace sits amid large public gardens. The city’s many museums offer exhibits ranging from classical art (in the Tokyo National Museum) to a reconstructed kabuki theater (in the Edo-Tokyo Museum).
Shinjuku (新宿) is one of the 23 city wards of Tokyo, but the name commonly refers to just the large entertainment, business and shopping area around Shinjuku Station.
Shinjuku Station is the world’s busiest railway station, handling more than two million passengers every day. It is served by about a dozen railway and subway lines, including the JR Yamanote Line. Shinjuku is also one of Tokyo’s major stops for long-distance highway buses. A large bus terminal, named Busta Shinjuku, is conveniently located on top of the railway station.
West of the station is Shinjuku’s skyscraper district, home to many of Tokyo‘s tallest buildings, including several premier hotels and the twin towers of the Metropolitan Government Office, whose observation decks are open to the public for free.
Northeast of the station lies Kabukicho, Japan’s largest and wildest red light district, while department stores, subterranean malls and electronic shops surround Shinjuku Station on all four sides, including the redeveloped Southern Terrace.
For more information on places to visit in Shinjuku, visit: