2022 International Scientific Symposium – Day 2

Watch the presentations from Day 2 of the 2022 International Scientific Symposium

Classical Ehlers-Danlos Syndrome – An Introduction – Dr. Glenda Sobey

Dr. Glenda J Sobey is co-founder and head of the UK Ehlers-Danlos Syndrome National Diagnostic Service in Sheffield and Honorary Senior lecturer at the University of Sheffield.  Her unit is responsible for the diagnosis of rare and atypical EDS including specialist clinical evaluation, electron microscopy and molecular genetic testing for all known EDS genes in the Sheffield laboratory. This service acts as a full clinical genetics service. In addition her team advises on and coordinates management of this group of patients. Together with cardiology colleagues, she established and runs a specialist Vascular EDS cardiology clinic. The team cares for > 200 patients with vEDS. Analysis of twelve years of medical management including oral medications in this group has just been completed. 

Dr. Sobey has an active role in teaching and lectures nationally and internationally. She has published widely.  She is particularly interested in promoting early diagnosis in rare diseases. 

Beyond the Skin: A Review of the Multisystemic Involvement of cEDS in a Tertiary Center – Dr. Marina Colombi

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

Marina Colombi is a molecular geneticist who graduated with honors in Biology, option Genetics, at the University of Pavia, Italy. She was a PhD in molecular genetics at the University of Helsinki, Finland. She is a Full Professor of Medical Genetics at the University of Brescia, Italy and the Director of the Division of Biology and Genetics, Department of Molecular and Translational Medicine. Her major scientific activity focus on clinical genetics of rare diseases including heritable connective tissue disorders, genodermatoses, and on the molecular definition of their pathomechanisms. She is author of more than 170 articles in international journals, the majority of which focus on Ehlers-Danlos syndromes and related disorders, and various book chapters and books (https://www.ncbi.nlm.nih.gov/myncbi/1veVqfb8D6dQts/bibliography/public/). 

Lung Abnormalities in a Mouse Model for cEDS – Dr. Roy Morello

Dr. Roy Morello received his bachelor and PhD degrees in Italy. In 1999 he moved to the US where he trained as a post-doctoral fellow and then as a junior Faculty under the supervision of Dr. Brendan Lee in the Department of Molecular and Human Genetics at Baylor College of Medicine, Houston, TX. In 2009 he was recruited as an Assistant Professor in the Department of Physiology & Biophysics at the University of Arkansas for Medical Sciences in Little Rock where he was promoted to Associate Professor with tenure in 2014. He studies collagens and the pathogenesis of connective tissue disorders such as OI and EDS. 

Chronic Pain in a Mouse Model of Classical Ehlers-Danlos Syndrome – Dr. Delfein Syx

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

Delfien Syx (PhD) is a senior postdoctoral researcher in the Department of Biomolecular Medicine and the Center for Medical Genetics at Ghent University. She investigates the pathomechanisms underlying the Ehlers-Danlos syndromes and other heritable connective tissue disorders, particularly focussing on elucidating the mechanisms and origins of pain in these disorders using preclinical models. 

Panel Q&A

Classical EDS in Children and Adults – Dr. Fleur van Dijk

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

Fleur van Dijk combines patient care and research in her profession as consultant clinical geneticist and honorary lecturer at Imperial College London.  
 
She has extensive experience in clinical and genetic aspects of hereditary connective tissue disorders, including monogenic Ehlers- Danlos (EDS) types, osteogenesis imperfecta (OI) and aortopathy.  
 
She leads the national Ehlers-Danlos service covering the South of the United Kingdom. 

Identifying a Pain Signature in Classical Ehlers-Danlos Syndrome: Preliminary Results from Questionnaires and Pain Testing – 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.

Pain-Related Behaviour and Cutaneous Innervation in a Preclinical Model for Classical Ehlers-Danlos Syndrome – Dr. Robin Vroman

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 PhD student from Ghent University at the Center for Medical Genetics in the lab of prof. Dr. Malfait. My co-promotors are Dr. Syx (UGhent) and prof. Dr. Anne-Marie Malfait (Rush, Chicago, USA). My work revolves around exploring the causal pathways of acute and chronic pain using a preclinical model of classical Ehlers-Danlos Syndrome. I specifically focus on pain-related phenotypes using various behavioral assays. In addition, my research interest also include innervation of different types of neurons in skin tissue. 

Patients Requiring Further Treatment Following a Pain Management Programme: The EDS Experience – Dr. Helen Cohen

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

Dr. Helen Cohen is a Consultant in Rheumatology and Chronic Pain at the Royal National Orthopaedic Hospital, Stanmore, UK.  Dr. Cohen graduated from the University of Wales College of Medicine, and completed her PhD at the Royal National Hospital for Rheumatic Diseases, Bath supported by an Arthritis Research UK Clinical Fellowship.  She has a special interest in the management and treatment of chronic pain, and specifically in joint hypermobility / Ehlers-Danlos syndromes(EDS), and Complex Regional Pain Syndrome (CRPS). She leads the CRPS and hypermobility rehabilitation programmes at Stanmore, working closely with orthopaedic colleagues and allied health professionals.  

One of Dr. Cohen’s main research interests is in understanding how brain mechanisms contribute to pain. Her clinical interests include hypermobility, fibromyalgia and CRPS among other chronic, difficult-to-explain pain syndromes.  She is a keen hiker/mountaineer and martial arts enthusiast. 

Pain Attitudes and Pain Interference in Children with Hypermobility Spectrum Disorder and Hypermobile Ehlers-Danlos Syndrome – Dr. Hyo-Jung Jeong

Hyo Jung Jeong is an NIDILRR ARRT postdoctoral fellow at Orthopaedic Rehabilitation and Engineering Center, Marquette University, Milwaukee, WI. Dr. Jeong received her Bachelor’s and Master’s degree in Physical Therapy at Yonsei University, South Korea. She has obtained her Ph.D. degree in Movement Science from the Washington University in St. Louis. Her current research is on understanding the biomechanical phenotype and pain in children with hypermobility spectrum disorder and hypermobile Ehlers-Danlos syndrome. She is particularly interested in understanding the movement patterns and musculoskeletal pain over lifespan.

Panel Q&A

Brief Introduction into vEDS and Gaps In Knowledge/Research Opportunities – Dr. Sherene Shalhub

Dr. Shalhub is a vascular surgeon and an associate professor of Surgery at the University of Washington in Seattle.  She is the director of the Multidisciplinary Vascular Genetics Clinic and her clinical practice includes a special focus on treating patients with genetically triggered aortopathies. Her practice includes open, endovascular, and hybrid surgical repairs for complex aortic and arterial pathology, dialysis access, limb preservation. Dr. Shalhub is actively involved in research which assess the impact of medical management and surgical procedures on patients with aortic dissections. She has received federal funding by the Patient Centered Outcomes Research Institute (PCORI) since 2017 with a focus on engaging patients with Vascular Ehlers-Danlos Syndrome and more recently Aortic Dissection. 

Red Flags for Diagnosis of vEDS and Current Recommendations for Management and Surveillance in Children and Adults with vEDS – Dr. Leema Robert

Leema is the Lead Consultant Geneticist for Inherited cardiac conditions (ICC) and aortopathy service at Guys and St Thomas Hospital (GSTT) and Kings College Hospital (KCH). With over 15 years of experience in clinical and cardiovascular genetics, Leema has been instrumental in leading the mainstreaming of genomics to adult and paediatric cardiovascular services.  

Within our service, we have established unique roles for our BHF funded cardiac genetic nurses (CGN) that are being adopted nationally. Our CGNs provide mainstreamed genetic and genomic expertise in ICC services. We have established embedded family clinics in cardiology with adult and paediatric cardiology support for diagnosis and management of patients with aortopathies. We have also led the development of different service models with the help of the Miles Frost Fund to provide hub and spoke model of care for patients with hypertrophic cardiomyopathy closer to their home. 

Initial Genetic Screening and Follow-up in Vascular EDS Patients: Building a Way Towards Consensus – Dr. Michael Frank

Dr. Michael Frank, MD, is a Cardiologist with additional training in Vascular Medicine and Genetics, who specializes in the diagnosis, management, and care of patients with vascular Ehlers-Danlos syndrome since 2006. He is the lead clinician of a dedicated diagnosis and care centre for vEDS patients since 2012, at the European Georges Pompidou Hospital in Paris. He has written several articles and chapters on rare vascular diseases and has been involved in several clinical trials and studies on vEDS. Dr. Frank is a medical advisory board member of the AFSED and EDS-Initiative, and chair of the MSA-working group of VascERN. 

Targetable Cellular Signaling Events Mediate Vascular Pathology in vEDS – Dr. Hal Dietz

Dr. Dietz is the Victor A. McKusick Professor of Pediatrics at the Department of Genetic Medicine at Johns Hopkins University School of Medicine and an Investigator at the Howard Hughes Medical Institute.  

His undergraduate training in biomedical engineering was performed at Duke University and his  MD degree was received from the Health Sciences University of Syracuse. Clinical and research training in pediatrics, pediatric cardiology, and genetics occurred at Johns Hopkins University School of Medicine.  

Dr. Dietz heads a multidisciplinary clinic for the diagnosis and management of individuals with  heritable forms of cardiovascular disease, with a special emphasis on Marfan syndrome and  related connective tissue disorders. He directs a group of dedicated molecular biologists focused on improvement of the lives of individuals with Marfan syndrome and related disorders through the development of novel diagnostic and treatment strategies.  

Panel Q&A

A Diagnosis of Vascular EDS in Childhood: Clinical and Molecular Features of 60 Individuals – Niamh Wilkinson

Niamh Wilkinson is a research assistant with the National Ehlers-Danlos Service based in London. With an interest in monogenic rare disease, she has undertaken research in Duchenne muscular dystrophy and, most recently, rare monogenic forms of Ehlers-Danlos syndrome (EDS). Niamh was first involved with EDS research as part of her master’s degree thesis which focused on individuals with Vascular EDS (vEDS). Her current research continues in the field of vEDS and rare forms of EDS, seeking to increase knowledge about the clinical and genetic features of individuals with rare EDS types to improve management and develop potential for new and improved therapies. 

Vascular EDS in Adulthood: An Overview of Clinical and Molecular Features of 151 Individuals – Niamh Wilkinson

Niamh Wilkinson is a research assistant with the National Ehlers-Danlos Service based in London. With an interest in monogenic rare disease, she has undertaken research in Duchenne muscular dystrophy and, most recently, rare monogenic forms of Ehlers-Danlos syndrome (EDS). Niamh was first involved with EDS research as part of her master’s degree thesis which focused on individuals with Vascular EDS (vEDS). Her current research continues in the field of vEDS and rare forms of EDS, seeking to increase knowledge about the clinical and genetic features of individuals with rare EDS types to improve management and develop potential for new and improved therapies. 

Abdominal Aortic Dissection is the Predominant Form of Abdominal Aortic Pathology in Vascular Ehlers-Danlos Syndrome – Dr. Sherene Shalhub

Dr. Shalhub is a vascular surgeon and an associate professor of Surgery at the University of Washington in Seattle.  She is the director of the Multidisciplinary Vascular Genetics Clinic and her clinical practice includes a special focus on treating patients with genetically triggered aortopathies. Her practice includes open, endovascular, and hybrid surgical repairs for complex aortic and arterial pathology, dialysis access, limb preservation. Dr. Shalhub is actively involved in research which assess the impact of medical management and surgical procedures on patients with aortic dissections. She has received federal funding by the Patient Centered Outcomes Research Institute (PCORI) since 2017 with a focus on engaging patients with Vascular Ehlers-Danlos Syndrome and more recently Aortic Dissection.  

The Presentation and Management of Iliac Arteriopathies in Vascular Ehlers-Danlos Syndrome – Dr. Sherene Shalhub

Dr. Shalhub is a vascular surgeon and an associate professor of Surgery at the University of Washington in Seattle.  She is the director of the Multidisciplinary Vascular Genetics Clinic and her clinical practice includes a special focus on treating patients with genetically triggered aortopathies. Her practice includes open, endovascular, and hybrid surgical repairs for complex aortic and arterial pathology, dialysis access, limb preservation. Dr. Shalhub is actively involved in research which assess the impact of medical management and surgical procedures on patients with aortic dissections. She has received federal funding by the Patient Centered Outcomes Research Institute (PCORI) since 2017 with a focus on engaging patients with Vascular Ehlers-Danlos Syndrome and more recently Aortic Dissection.  

Mechanical Integrity of the Thoracic Aorta in Mice Modelling in vEDS and Related Aortic Diseases – Dr. Janine Meienberg

Janine Meienberg studied biology at the University of Zurich (CH) and obtained her MSc in Human Biology in 2009. Her MSc thesis showed at the molecular level that the complete loss of one COL3A1 allele (true haploinsufficiency) can cause a vEDS-related phenotype (PMID: 20648054). She conducted her PhD studies focusing on the molecular basis of aortic diseases at the Center for Cardiovascular Genetics and Gene Diagnostics of the Swiss Foundation for People with Rare Diseases in Schlieren-Zurich (CH). Since 2016, she has been working as a Postdoc and lab manager in the same center. She is working on different projects including the investigation of mouse aortic disease models and therapeutic approaches as well as data analysis in WGS-based clinical sequencing.

Added Value of Statins in the Treatment of Vascular Ehlers-Danlos Syndrome – Marc Thomas Schoenholzer

Marc Thoms Schönholzer has completed his MSc studies in Cancer Biology at the University of Zurich, where he investigated the MAPK signaling pathway in migrating medulloblastoma tumor cells in collaboration with the University Children’s Hospital Zurich. 
In February 2022, Marc started his PhD studies at the Center for Cardiovascular Genetics and Gene Diagnostics of the Swiss Foundation for People with Rare Diseases in Schlieren-Zurich. Within his PhD research project, he dedicates himself to the investigation of medical treatment for vascular Ehlers-Danlos syndrome (vEDS) by repurposing market-approved drugs. 

Panel Q&A

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