2022 International Scientific Symposium – Day 1

Watch the presentations from Day 1 of the 2022 International Scientific Symposium

How to Define “Ehlers-Danlos Syndromes”? Framing the Conundrum After the 2017 International Classification – Prof. Fransiska Malfait

Fransiska Malfait (MD, PhD) is Chief of Clinic at the Center for Medical Genetics, Ghent University Hospital, and Associate Professor at the Department of Biomolecular Medicine, Ghent University, Belgium, where she directs the research, clinical service, and laboratory facility for diagnosis and genetic testing for the Ehlers–Danlos syndromes and other heritable disorders of connective tissue. She is a member of the steering committee of the International EDS consortium, the Chief medical and Scientific Officer of the EDS Society, Senior disease coordinator for EDS in the European Reference Network on rare musculoskeletal diseases (ReConnet), and member of the European Reference Networks on rare vascular diseases (VASCERN) and rare skin diseases (ERN Skin).

Refreshing General Concepts on EDS/HSD – Dr. Marco Castori

Marco Castori is a Clinical and Molecular Geneticist. He heads the Division of Medical Genetics at Fondazione IRCCS-Casa Sollievo della Sofferenza (Italy). His major research interests include hereditary connective tissue and cardiovascular disorders, joint hypermobility, and next-generation technologies applications in clinics. 

Genetic Complexity of Diagnostically Unsolved Ehlers-Danlos Syndrome – Dr. Anthony Vandersteen

Upon the request of the presenter, this presentation was aired live during the International Scientific Symposium and will not be shared further.

I am a medical geneticist working in Eastern Canada.  I trained in the UK, and have an interest in hereditary disorders of connective tissue.

Refining and Improving the EDS Variant Database – Dr. Raymond Dalgleish

Raymond Dalgleish studied Cell Biology at the University of Glasgow and undertook his PhD studies on the molecular genetics of globin genes at St. Mary’s Hospital Medical School, University of London. The next four years were spent as a Fogarty International Research Fellow in the Pulmonary Branch of the National Heart, Lung and Blood Institute at the National Institutes of Health, Bethesda, Maryland, USA, cloning and analysing the first human collagen genes.

Opening Session Q&A

Brief Introduction into the Rare EDS Types and Gaps in Knowledge/Research Opportunities – Prof. Marianne Rohrbach

Upon the request of the presenter, this presentation was aired live during the International Scientific Symposium and will not be shared further.

1996 MD, University of Berne, Switzerland 
1999 PhD in molecular Genetics, University of Berne, Switzerland 
2004-2007 Postodoctoral fellowship, clinical and metabolic Genetics, Hospital for Sick Children, Toronto, Canada 
2007 FMH pediatrics, Swiss Medcial Association 
2007 FMH medical genetics, Swiss Medcial Association 
2014 Venia legendi (PD) of the Medical Faculty of the University of Zurich, Switzerland 

Multi Omics Unravels Molecular Signatures of kEDS – Dr. Christina Kaufman

Upon the request of the presenter, this presentation was aired live during the International Scientific Symposium and will not be shared further.

Since 2021: Clinical Fellow Metabolomics, Universitäts- Kinderspital Zürich -Eleonorenstiftung, Zürich, Switzerland 
2020-2021: Resident physician, Universitäts- Kinderspital Zürich -Eleonorenstiftung, Zürich, Switzerland 
2018-2020: Resident physician, Stadtspital Triemli, Zürich, Switzerland 
2013-2016: PhD, Ruprecht-Karls-Universität Heidelberg, Germany 
2010-2017: Medical School, Ruprecht-Karls-Universität Heidelberg, Germany 
2007-2010: MSc Molecular Biotechnologie, Ruprecht-Karls-Universität Heidelberg, Germany 
2004-2007: BSc Molecular Biotechnologie, Ruprecht-Karls-Universität Heidelberg, Germany 

Atypical Variants in COL1A1/COL3A1 Associated with Classical and Vascular Ehlers-Danlos Syndrome Overlap Phenotypes – Dr. Marlies Colman

Upon the request of the presenter, this presentation was aired live during the International Scientific Symposium and will not be shared further.

Marlies Colman (MD) is a PhD candidate in the lab of Prof. Dr. Fransiska Malfait at the Center for Medical Genetics Ghent, Ghent University Hospital, and the Department of Biomolecular Medicine, Ghent University, Belgium. Her research mainly focusses on characterisation of chronic pain in individuals with the classical type of Ehlers-Danlos syndrome and the delineation of its underlying mediators and pathways.

Dermatosparaxis Ehlers-Danlos Syndrome in Adulthood – Dr. Chloe Angwin

A current Dermatology Specialist Registrar with an interest in Ehlers-Danlos syndrome and the genetics of skin disease. I have worked with the London based EDS service for a number of years on a variety of different projects, with a particular focus on clinical and translational research. 

Physiological and Molecular Exploration of Skin Microvessel Defects in Murine Model of Classical-like Ehlers-Danlos Syndrome – Dr. Laura Prigent

Upon the request of the presenter, this presentation was aired live during the International Scientific Symposium and will not be shared further.

I am Laura Prigent, a third-year PhD student in the Tissue Biology and Therapeutic Engineering Laboratory in Lyon (France). My thesis, directed by the Professor Ulrich Valcourt, is about the skin vascular fragility found in the classical-like Ehlers-Danlos Syndrome (clEDS).

During my two years of master’s degree, I specialized in bio-imaging, which allowed me to acquire broad skills in microscopy and tissue imaging. Thanks to this, in the laboratory, I was able to develop a new atomic force microscopy (AFM) protocol, at the interface between biology and physics. This protocol allows us to measure the biomechanical properties of tissus. In my presentation, I will present my results obtained by AFM showing the elasticity of the murine dermis with and without an extracellular matrix glycoprotein. This protein called Tenascin-X is responsible for the clEDS. It is with great pleasure that I will present my work at this symposium in Rome, which I hope will interest you as much as I am.

Non-Oral Manifestations in 21 Adults with a Clinical and Molecularly Confirmed Diagnosis of Periodontal EDS – Dr. Chloe Angwin

A current Dermatology Specialist Registrar with an interest in Ehlers-Danlos syndrome and the genetics of skin disease. I have worked with the London based EDS service for a number of years on a variety of different projects, with a particular focus on clinical and translational research. 

New Insights Into The Pathomechanisms Of Periodontal EDS As A Connective Tissue Disease – Dr. Johannes Zschocke

Upon the request of the presenter, this presentation was aired live during the International Scientific Symposium and will not be shared further.

Johannes Zschocke is Professor and Chair of Human Genetics at the Medical University Innsbruck, Austria, where he is also Director of the Department of Genetics, and Head of the Centre for Medical Genetics Innsbruck. As such, he is responsible for the provision of the whole range of genetic services for Western Austria and beyond. His own clinical and research focus is on inherited metabolic and connective tissue diseases. 

Cardio-facio-cutaneous-articular syndrome: Arguments to Consider TAB2-haploinsufficiency as a Mechanism Leading to an Ehlers-Danlos syndrome-like Phenotype- Dr. Lucia Micale

Degree in Biological Science on 2002. 
PhD in Genetics and Molecular biology on 2006 
Speciality in Medical Genetics on 2010 
Scientist at Fondazione IRCCS Casa Sollievo della Sofferenza from 2006 to date 

Post-transitional Modifications Provided by Lysyl Hydroxylase 3 Plays a Critical Role to Form α1α1α2 Type IV Collagen Heterotrimer – Dr. Yoshihiro Ishikawa

Yoshi Ishikawa has studied how collagens are produced in the ER using diverse approaches including biochemical, biophysical, and structural analysis and animal models. He has made significant contributions to the fundamental understanding of how collagen biosynthesis is orchestrated and functionally characterized over ten collagen-related biosynthetic molecules. Furthermore, his in vitro studies identified unique patterns on collagen post-translational modifications in different collagen types and specific molecular interactions between ER proteins, collagens and other ECM proteins. While many studies on collagen IV and its mutations using cell biology and model organisms have been reported, it’s still challenging to investigate the details of collagen IV molecules with biochemical and biophysical approaches. To fill this important gap in our knowledge, he is uniquely qualified to conduct collagen IV biochemistry and biophysics at UCSF. 

Insights on the Pathogenesis of Musculocontractural EDS – Dr. Tomoki Kosho

Tomoki Kosho is a pediatrician and clinical geneticist, and his main clinical and research focus is the management of genetic disorders including hereditary connective tissue disorders (e.g., Ehlers-Danlos syndrome; EDS). After graduating Keio University School of Medicine and receiving training for general pediatrics, he had training for clinical geneticist in Saitama Children’s Medical Center where he encountered the first patient with musculocontractural EDS (mcEDS). After moving to Shinshu University in 2003, he encountered additional patients with mcEDS and, by organizing collaborative research, identified the causative gene and delineated the disorder. He was promoted to Professor of Department of Medical Genetics, Shinshu University School of Medicine and the director of Center for Medical Genetics, Shinshu University Hospital in 2018. He leads multidisciplinary and interinstitutional research projects to uncover pathomechanism of EDS and establish etiology-based treatment. 

Rarer Types: Where We Are And Where Do We Need To Be Q&A

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