Tokyo Scientific Meeting, 18-19 November 2019

Scientific Meeting Tokyo, November 18-19

FROM GENETICS TO MANAGEMENT

TOMOKI KOSHO, CONFERENCE CHAIR


Hotel Sunroute Plaza Shinjuku
2-3-1 Yoyogi, Shinjuku-ku • 151-0053 Tokyo, JAPAN  // Tel: +81-3-3375-3211 • Fax: +81-3-5365-4110 // Email: plaza-shinjuku@sunroute.jp

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.

Highlights include:

  • 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

Scientific committee

Peter Byers
Clair Francomano
Shujiro Hayashi
Fransiska Malfait
Ken-ichi Matsumoto

Location

Hotel Sunroute Plaza Shinjuku
2-3-1 Yoyogi, Shinjuku-ku
151-0053 Tokyo, JAPAN
Tel: +81-3-3375-3211
Fax: +81-3-5365-4110
Email: plaza-shinjuku@sunroute.jp

Questions?

Please get in touch with our event manager, Stacey Simmonds, by clicking here.

Interested in becoming a conference sponsor? Please get in touch with Carissa Hocevar, our development director.

November 18 (Monday)

10:00-10:15
Welcome address: Lara Bloom, Fransiska Malfait, Tomoki Kosho

10:15-10:30
Intro/Goals of the Meeting: Tomoki Kosho


10:30-12:00
Session 1: Classical EDS and related subtypes
Chair: Clair Francomano and Shujiro Hayashi

10:30-11:00
Classical EDS.
Clair Francomano

11:00-11:20
Delineating Ehlers-Danlos syndrome, the classical subtype: molecular and clinical characteristics of a large patient cohort.
Marlies Colman

11:20-11:35
Intrafamilial variability in a 3-Generation family with COL5A1-associated classical Ehlers-Danlos syndrome.
Carey Ronspies

11:35-11:50
Discovery of AEBP1-related Ehlers-Danlos syndrome, expansion of understanding of EDS & related disorders.
Paldeep Atwal


12:00-14:00  Lunch Break and Poster Session


14:00-15:15
Session 2: Vascular EDS
Chair: Peter Byers and Hiroko Morisaki

14:00-14:30
Vascular EDS: General aspects and recent advancement.
Peter Byers

14:30-14:45
Clinical features in adolescence among genetically confirmed vascular Ehlers-Danlos syndrome in Japanese: A retrospective study.
Hiroko Morisaki

14:45-15:00
Clinical sequencing for vascular Ehlers-Danlos syndrome using panel-based next-generation sequencing.
Tomomi Yamaguchi

15:00-15:15
Three vascular type of Ehlers-Danlos syndrome patients without family history, who experienced gastrointestinal perforation.
Takeshi Yamada

15:15-15:30
Characteristic electron microscopy findings of vascular Ehlers–Danlos syndrome for helpful of diagnosis.
Shujiro Hayashi


15:30-16:00  Coffee Break


16:00-16:45
Session 3: Classical-like EDS
Chair: Ken-ichi Matsumoto

16:00-16:30
Tenascin-X: A causative gene of classical-like EDS.
Ken-ichi Matsumoto

16:30-16:45
Mechanical allodynia in tenascin-X-deficient mice associated with the Ehlers-Danlos syndrome.
Emiko Okuda-Ashitaka


16:45-17:15
Session 4: Periodontal EDS
Chair: Peter Byers

Periodontal EDS
Johannes Zschocke


18:00-21:00  Welcome Dinner

November 19 (Tuesday)

9:00-10:45
Session 5: Proteoglycan defect-related EDS
Chair: Tomoki Kosho and Shuji Mizumoto

9:00-9:30
Proteoglycan defect-related EDS.
Shuji Mizumoto

9:30-9:45
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by variants in CHST14 (mcEDS-CHST14).
Mari Minatogawa

9:45-10:00
Delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE).
Ai Unzaki

10:00-10:15
Skin and vascular abnormalities in CHST14 gene-deleted mice, an animal model of musculocontractual Ehlers-Danlos syndrome.
Takahiro Yoshizawa

10:15-10:30
CRISPR/CAS9-mediated development and characterization of knockout mice for musculocontractural type Ehlers-Danlos syndrome caused by mutations in CHST14 (mcEDS-CHST14).
Yuko Nitahara-Kasahara

10:30-10:45
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.
Fransiska Malfait


10:45-11:15  Coffee Break


11:15-12:30
Session 6: Other rare types
Chair: Johannes Zschocke

11:15-11:35
Dermatosparaxis EDS.
Fransiska Malfait

11:35-11:50
Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum.
Tibbe Dhooge

11:50-12:00
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.
Fraser Burling


12:00-14:00  Lunch Break and Poster Session


14:00-15:10
Session 7: Quality of Life
Chair: Clair Francomano and Clare Green

14:10-14:30
Genetic counselling in families with rare types of EDS.
Clare Green

14:30-14:45
Comprehensive study on pregnancy, childbirth, and childcare of women with Ehlers-Danlos syndromes.
Mizuho Suzuki

14:45-15:00
Psychosocial adjustment and quality of life of people with vascular Ehlers-Danlos syndrome: A comparative study.
Carolina Baeza-Velasco


Closing Remarks: Lara Bloom, Fransiska Malfait, Tomoki Kosho

Posters


(For guidance on posters, please see our scientific poster guidelines.)


Testing
Testing outcomes of an exome-based panel for Ehlers-Danlos syndrome.
Juan Dong

Rare case reports
The management of peripheral arterial dissection on extremities: A case report of vascular Ehlers-Danlos syndrome.
Sachiko Kanki

A novel biallelic mutation in the COL12A1 gene by a next-generation sequence revealed myopathic EDS A case report.
Megumi Furuhata

A case report: Pregnancy-related complications in woman with Ehlers-Danlos syndrome with biallelic variant in AEBP-1.
Hiromi Sanai

clEDS
Intestinal ischemia in a 61-years-old man with classical-like Ehlers-Danlos syndrome.
Hiroaki Hanafusa

Another type
A case report of Ehlers-Danlos syndrome patient with craniofacial anomaly and severe enamel hypoplasia.
Chisato Morita

Psychological
Transvestism recognized in Ehlers-Danlos syndrome: Report of two cases.
Hiroki Ishiguro

mcEDS-related
Otological features in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in CHST14 (mcEDS-CHST14).
Masayuki Kawakita

Radiological features of hands, feet, and pelvis in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in CHST14 (mcEDS-CHST14).
Rena Kobayashi

Conformational structure of glycosaminoglycan chains in dermis revealed by Ehlers-Danlos syndrome.
Takafumi Watanabe

Pathophysiological investigation for large subcutaneous hematomas of Ehlers-Danlos syndrome using patient induced pluripotent stem cells.
Fengming Yue

Structural change of decorin from dermatan sulfate to chondroitin sulfate affects type I collagen fibril reconstitution.
Nomura Yoshihiro

Whole genome sequencing in a cat with Ehlers–Danlos syndrome.
Yoshihiko Yu

Conference chair:

Tomoki Kosho
Shinshu University School of Medicine, Center for Medical Genetics, Nagano, Japan

The Ehlers-Danlos Society
Lara Bloom
President and CEO

Invited specialists

Clair Francomano
Greater Baltimore Medical Center, Baltimore, Maryland, USA

Peter Byers
University of Washington, Seattle, Washington, USA

Alan Hakim
The Platinum Medical Centre, The Wellington Hospital, London, UK

Shujiro Hayashi, PhD
Dokkyo Medical University, Mibu, Japan

Fransiska Malfait
Ghent University Hospital, Ghent, Belgium

Ken-ichi Matsumoto
Shimane University, Izumo, Japan

Shuji Mizumoto
Meijo University, Nagoya, Japan

Johannes Zschocke
Department of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria

Tokyo

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

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: