EDS ECHO Summit Series: Vascular Ehlers-Danlos Syndrome – Day 1

Watch the presentations from Day 1 of our EDS ECHO Summit Series: Vascular Ehlers-Danlos Syndrome event

Objectives Of This Event – Dr. Sherene Shalhub

Dr. Sherene Shalhub is a vascular surgeon, translational researcher at the University of Washington (UW), and the Director of the Multidisciplinary Vascular Genetics Clinic at the University of Washington Medical Center. She holds the position of Assistant Professor in the Department of Surgery and am an affiliate faculty of the Surgical Outcomes Research Center (SORCE). Her work aims to provide high quality care to patients suffering from rare vascular conditions such as Vascular Ehlers Danlos Syndrome. Her goal is to improve success of surgical repair and long-term survival for these high-risk patients while maintaining an excellent quality of life in a manner that is in line with their priorities and personal values. Dr. Shalhub is the lead investigator for the Vascular Ehlers-Danlos Collaborative funded by the Patient Centered Outcomes Research Institute (PCORI) and for the Vascular Ehlers-Danlos Collaborative Research Study.

Welcome to Session 1 – Dr. Peter Byers

Peter H. Byers, MD is a Professor, Department of Laboratory Medicine and Pathology and Department of Medicine (Medical Genetics). The pivot point in his career was 3 years at the National Institute of Dental Research, NIH, in George Martin’s laboratory.  This introduced him to collagens, previously the most boring proteins in the world, convinced him of their dynamic nature and as a resource for understanding the genetics of rare disorders and as a window to fundamental biology.  Then a 3 year combined fellowship in biochemistry (Paul Bornstein) and Medical Genetics (Arno Motulsky) put collagen biology into a clinical context and led by Arno’s maxim to “think genetically” laid the foundation for the next 40+ years of working with families with heritable connective tissue disorders (EDS, OI, Marfan syndrome) and the identification of the underlying genetic bases of these conditions. 

Genetics and Molecular Biology in vEDS – Dr. Lauren Puryear

Lauren Puryear is a Genetic Counselor and Clinical Assistant Professor at the University of Washington Medical Center. She provides genetic counseling to patients for a variety of indications and has a particular interest in vascular Ehlers-Danlos syndrome and other connective tissue disorders. Ms. Puryear received a Bachelor of Arts degree in psychology from Stanford University and worked as an educator and mediator before returning to school to study genetics. She received her Master of Science in Human Genetics and Genetic Counseling from Stanford University and was board certified by the American Board of Genetic Counseling in 2016.

Interpreting the Genetic Testing Report – Duncan Baker & Dr. Neeti Ghali

Duncan Baker

I’ve been a clinical scientist in diagnostic laboratory genetics for 18 years. Currently I am the lead scientist for the Musculoskeletal disorders services, which includes EDS and am based in the Yorkshire and North East Genomics Laboratory Hub.

Neeti Ghali

Neeti Ghali has been working as a consultant in Clinical Genetics at Northwick Park Hospital since 2011. She sees patients with suspected connective tissue disorders and aortopathy through the North West Thames Regional Genetics Service and Royal Brompton & Harefield Hospitals and works in the National EDS service. She assesses patients and families with suspected rare types of EDS and carries out investigations including genetic testing to understand more about the basis of their disorders. She also runs joint clinics with adult and paediatric cardiology (St. Bartholomew’s Hospital and Great Ormond Street Hospital respectively) and is involved in audit, research and publications on EDS with national and international collaborations.

How Do We Interpret Data From Mice Models? – Dr. Peter Byers

Peter H. Byers, MD is a Professor, Department of Laboratory Medicine and Pathology and Department of Medicine (Medical Genetics). The pivot point in his career was 3 years at the National Institute of Dental Research, NIH, in George Martin’s laboratory.  This introduced him to collagens, previously the most boring proteins in the world, convinced him of their dynamic nature and as a resource for understanding the genetics of rare disorders and as a window to fundamental biology.  Then a 3 year combined fellowship in biochemistry (Paul Bornstein) and Medical Genetics (Arno Motulsky) put collagen biology into a clinical context and led by Arno’s maxim to “think genetically” laid the foundation for the next 40+ years of working with families with heritable connective tissue disorders (EDS, OI, Marfan syndrome) and the identification of the underlying genetic bases of these conditions. 

Community Voices – Emma Borreggine

Emma was diagnosed with Vascular Ehlers Danlos Syndrome at the age of 20, after having lost five family members to the disease. In 2014, frustrated by the lack of information and research on VEDS, she and her husband, Justin, founded the DEFY Foundation to help raise awareness and funds to support further research. She has also been involved with the work of the VEDS Collaborative and the VEDS Movement.

Community Voices – Faith Smith

Faith’s passion for advocacy in the health and science space started at a young age, as she watched her beloved family and friends struggle with their health growing up. This drive was further ignited with the passing of her baby sister later on and battling chronic health problems of her own. Wanting to help the lives of as many as possible with the resources available to her has shaped her to be who she is today. 

After experiencing two major life events that landed her in the hospital; And while working with some of the most supportive and encouraging medical professionals (who now make up her medical team) she was diagnosed with Vascular Ehlers-Danlos Syndrome otherwise known as vEDS. Because of her diagnosis experience, she is really passionate about encouraging better patient and medical profession relationships. Currently, Faith is an undergraduate at the University of Michigan studying Biochemistry and Psychology with a minor in Argumentation and Advocacy. She hopes that she can become a medical professional that can help bring innovation, creativity, and more empathy to a field that has the ability to change lives. 

When Faith is not studying or working full time as a recruiter or advocating, you may find her writing for her blog, cooking and developing recipes, gardening, or spending time with her family and her Silky Terrier named Chewy. 

Biology and Genetics Q&A

Welcome to Session 2 – Dr. Glenda Sobey

Dr. Glenda Sobey is Head of the EDS National Diagnostic Service in the UK. This tertiary/quaternary referral unit provides clinical assessment and molecular genetic diagnosis in Rare and Complex EDS. Specialist clinics in Sheffield and London see patients from across the UK for expert evaluation, and genetic testing for all known EDS genes is performed in our laboratory in Sheffield.

Outpatient Medical Management in vEDS – Dr. Fleur Van Dijk & Dr. Glenda Sobey

Dr. Fleur van Dijk

Fleur van Dijk combines patient care and research in her profession as consultant clinical geneticist. She focuses on clinical and genetic aspects of hereditary connective tissue disorders. She leads the national diagnostic Ehlers-Danlos service in London which is a tertiary service aimed at diagnosis and follow-up of people with monogenic types of EDS.

Dr. Glenda Sobey

Dr. Glenda Sobey is Head of the EDS National Diagnostic Service in the UK. This tertiary/quaternary referral unit provides clinical assessment and molecular genetic diagnosis in Rare and Complex EDS. Specialist clinics in Sheffield and London see patients from across the UK for expert evaluation, and genetic testing for all known EDS genes is performed in our laboratory in Sheffield.

Psychosocial Issues in Patients Living With vEDS – Leanne Barrett

I am a pre-registration genetic counselling student, currently working at Great Ormond Street Hospital after completing my masters at Cardiff University. My interest in Vascular Ehlers Danlos Syndrome started when conducting my dissertation research in 2019. My research is the first study in the UK to explore the psychosocial impact of livng with vEDS and really captures the experiences of those living with the condition. I am in the process of publishing my research and hope to continue researching the psychosocial impact of living with other genetic conditions in the future.

Exercise with vEDS – Dr. Siddarth Prakash

Siddharth Prakash has a Ph.D. in Molecular and Human Genetics from Baylor College of Medicine, where he also completed his residency in Internal Medicine and a fellowship in Cardiovascular Disease. Since 2011, Dr. Prakash has worked in the John Ritter Research Program in Aortic and Vascular Diseases at McGovern Medical School, a part of the University of Texas Health Science Center at Houston (UTHealth), where he specializes in medical therapy, imaging and surveillance of patients with heritable aortic and vascular diseases. He is Associate Professor of Internal Medicine and is co-director of the Turner Syndrome Adult Comprehensive Care Center. Dr. Prakash’s translational research l focuses on the contribution of rare genomic copy number variants (CNVs) to bicuspid aortic valve (BAV), the most common adult congenital heart defect. Dr. Prakash uses an innovative strategy to identify new candidate genes for BAV, based in part on the hypothesis that reduced dosage of genes on the X chromosome is responsible for the increased prevalence of BAV in males and in women with Turner syndrome. He identified recurrent CNVs in diverse clinical cohorts with BAV and demonstrated that specific rare CNVs are an important contributing cause of thoracic aortic aneurysms. Dr. Prakash received funding from the American Heart Association and National Institutes of Health follow up on these observations in patients with early complications of bicuspid aortic valve disease.

What My Toolbox Looks Like, And How You Could Build Yours – Katie Wright

Katie Wright

Katie Wright is the Director of The VEDS Movement, a division of The Marfan Foundation devoted to saving lives and improving the quality of life of individuals with Vascular Ehlers-Danlos Syndrome (VEDS). Katie was diagnosed with VEDS in 2017 and first became involved in advocacy for VEDS with a YouTube channel, a podcast, and the VEDS Collaborative. She joined the Foundation in 2019 to launch The VEDS Movement.

Community Voices – Earl Baumgardner

Earl Baumgardner lives Merrimac, Massachusetts, USA with his wife, Jan and daughter, Lilli. He has been very active in his community for 38 years. He has served on various town boards and committees, including Finance Committee, Planning Board, Zoning Board of Appeals, Affordable Housing Trust, Capital Planning Committee, School Committee, and Board of Selectmen.
  
Earl has been in the telecommunications and data networking industry for over 40 years. He has served in various customer service, marketing, sales support and sales roles at major companies, such as AT&T, IBM, Siemens and Avaya. He is currently a Senior Account Manager for Consolidated Communications, a telecommunications service provider delivering high speed, fiber-based internet networks and cloud services throughout the United States.
  
For the past two years Earl has participated in the Proclamation Challenge during EDS/HSD Awareness Month in May by securing proclamations from Governor Charlie Baker declaring May as EDS/HSD Awareness Month in Massachusetts. He recently began volunteering for the Ehlers-Danlos Society as a session administrator for EDS ECHO Advocacy training. Earl was diagnosed with vEDS in 2016.

Managing Daily Life With vEDS Q&A

Welcome to Session 3 – Dr. Xavier Jeunemaitre

Xavier Jeunemaitre received his MD and PhD in human genetics at the University P&M Curie, Paris France. He was trained as an internist and specialized in cardiology before being trained in molecular genetics at the College de France in Paris and in human genetics during a post-doctoral fellowship at the Institute of Human Genetics, Salt Lake City, University of Utah, USA. As a Professor in Genetics at Université de Paris (Descartes), he is in charge of the Department of Genetics at the Hospital Pompidou and a research team at the Paris Cardiovascular Research Centre, UMRS-970, Paris France. He has been appointed in 2019 as the Dean of the Faculty of Health of the Université de Paris. His main scientific interests are the genetic determinants of arterial hypertension and cardiovascular disorders, among them vascular Ehlers Danlos syndrome. Dr. Jeunemaitre authored or co-authored more than 300 peer-reviewed articles and chapters books.

Pulmonary Abnormalities in vEDS – Dr. Enid Neptune

Dr. Neptune is a pulmonary, critical care physician with expertise in genetic disorders of the matrix with pulmonary manifestations. She is also skilled in the management of patients with advanced obstructive lung disease, especially emphysema. Dr. Neptune has extensive expertise in the diagnosis and management of the pulmonary complications of Marfan Syndrome, Loeys-Dietz Syndrome, vascular Ehlers Danlos Syndrome and other matrix disorders and serves on the Professional Advisory Board of the Marfan Foundation.  She is also an expert on tobacco dependence and is the Vice-Chair of the Tobacco Action Committee of the American Thoracic Society. 

Intestinal Emergencies in vEDS – Dr. Jessica A. Zagory

Jessica Zagory obtained her MD from Wright State University Boonshoft School of Medicine. She completed her general surgery internship and residency at Louisiana State University Health Sciences Center – New Orleans, a research fellowship at Children’s Hospital Los Angeles, and her clinical fellowship in pediatric surgery at the University of Texas Southwestern/Children’s Health Dallas. She is an assistant professor of pediatric surgery at LSUHSC and Children’s Hospital New Orleans.

Gastrointestinal Abnormalities in vEDS – Dr. Laura Pace

Dr. Laura A. Pace is board certified in Internal Medicine, Gastroenterology, and Autonomic Disorders. She has a PHD in Neuroscience and advanced clinical training in the physiology, diagnostics, and clinical management of neurogastrointestinal disorders and clinical genetics. Additionally, she has advanced research training in the areas of neuroscience, microbial physiology, evolution and genetics, as well as analytical chemistry studying host-microbe interactions. She has been a leader in the rare disease space for many years and for the past several years has served as the co-lead for the adult program for the Mountain West NIH Undiagnosed Diseases Network (NIH UDN) clinical site, Medical Board member for Dysautonomia International and Chair of the Gastrointestinal Working Group for the International Consortium on Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders.

BP Control and Management of Autonomic Dysfunction – Dr. Satish Raj

Satish R. Raj

Satish R Raj MD MSCI is a Canadian Heart Rhythm Cardiologist. He spent 12 years working at the Vanderbilt Autonomic Dysfunction Center in Nashville, TN. He has now moved back to the University of Calgary in Canada and he has founded the Calgary Autonomic Investigation & Management Clinic.  He is currently Professor of Cardiac Science at the Libin Cardiovascular Institute and the University of Calgary’s Cumming School of Medicine. His primary research interests relate to understanding and better treating postural tachycardia syndrome (POTS) and vasovagal syncope – both in patients with and without EDS.

Dr. Raj is currently the President of the American Autonomic Society.

Dr. Raj also serves as a Medical Advisor to many POTS patient groups, including POTS UK, and Dysautonomia International, and he is a part of the EDS Community Coalition Working Group.

Migraines – Dr. Manjit Matharu

Dr Manjit Matharu is an Associate Professor at UCL Queen Square Institute of Neurology and Honorary Consultant Neurologist at The National Hospital for Neurology and Neurosurgery, London, UK. He is the Clinical and Academic Lead of the Headache and Facial Pain Group at The National Hospital for Neurology and Neurosurgery and UCL Queen Square Institute of Neurology, respectively.

Community Voices – Sarah Fulop

I am a 23 year old female form San Diego, CA. I am the 5th child of 8 kids born to Hungarian immigrants (I am fluent in Hungarian) and am an aunt to 5 nephews and 2 nieces. Three of us siblings were diagnosed with VEDS and unfortunately 2 of us have passed away. I work as an application solutions scientist at BASF in San Diego and earned my bachelor of science in Biochemistry/ Chemistry at UC San Diego in December 2019. I love playing the piano, hiking, swimming at the beach and reading. I have traveled to Europe 8 times, Haiti once, the Middle East once and Mexico and Canada several times. My favorite thing to do is to meet new people and hear threat life stories. I am a science nerd but surprisingly good at graphite drawings and oil paintings. I love the sunshine and European pastries!

Community Voices – Isabella Marin

Isabella Marin is an RN from Texas. She holds a psychology and nursing degree and currently works in a clinical and research setting to advance knowledge for individuals who have a genetic risk for developing aneurysm/dissection. In 2004, she was diagnosed with vEDS (Vascular Ehlers Danlos Syndrome) and she is the only person in her family who carries the diagnosis. She has a passion for sharing her story and experiences to help others who are going through similar experiences.

Other Manifestations of vEDS Q&A

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