ECHO Summit Series: Classical Ehlers-Danlos Syndrome – Healthcare Professionals Day

Watch the recordings from Healthcare Professionals Day of our EDS ECHO Summit Series: Classical Ehlers-Danlos Syndrome event

Welcome to Session 1 – Dr. Clair Francomano

Dr. Clair Francomano received her M.D. from Johns Hopkins University School of Medicine and completed her training in Internal Medicine and Medical Genetics at Johns Hopkins. After serving on the full time faculty at Johns Hopkins and in the Intramural Research Program of the NIH, she joined the Greater Baltimore Medical Center in 2005 as Director of Adult Genetics at the Harvey Institute of Human Genetics. Since 2019, she has been a Professor of Medical and Molecular Genetics at the Indiana University School of Medicine and director of the Residency Training Program in Genetics at IU. Dr. Francomano has been involved in the care of patients with Ehlers-Danlos syndrome throughout her career. She is Chair of the Medical and Scientific Board for the Ehlers-Danlos Society and a member of the Steering Committee for the International Consortium on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders.

2017 Diagnostic Criteria for cEDS – 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).

Multisystem Manifestations in classical Ehlers-Danlos Syndrome – Dr. Alan Hakim

Dr. Hakim is an adult certified Consultant in Medicine based in the UK. He has over 25 years of experience in Rheumatology and Translational Medicine, and 20 years of experience in hypermobility-related disorders. In hospital and community clinical commissioning and administration he has worked at Divisional, Director, Executive, and Board levels. Dr Hakim has published widely in clinical research and education, including over 100 original scientific and review papers, 5 books, and multiple online pages and webinars. He has also held a variety of Principle and Chief investigator positions in pharmaceutical studies related to rheumatic disorders. He is a Fellow of The Royal College of Physicians, London, UK, an Adjunct Associate Professor in Medicine at PennState, USA, and the Director of Education at The Ehlers-Danlos Society. 

Diagnostic Criteria, & Major & Minor Characteristics in cEDS Q&A Session

Welcome to Session 2 – Dr. Alan Hakim

Dr. Hakim is an adult certified Consultant in Medicine based in the UK. He has over 25 years of experience in Rheumatology and Translational Medicine, and 20 years of experience in hypermobility-related disorders. In hospital and community clinical commissioning and administration he has worked at Divisional, Director, Executive, and Board levels. Dr Hakim has published widely in clinical research and education, including over 100 original scientific and review papers, 5 books, and multiple online pages and webinars. He has also held a variety of Principle and Chief investigator positions in pharmaceutical studies related to rheumatic disorders. He is a Fellow of The Royal College of Physicians, London, UK, an Adjunct Associate Professor in Medicine at PennState, USA, and the Director of Education at The Ehlers-Danlos Society. 

Pain, Fatigue and Burden of Disease – Dr. Jane Schubart

Jane R. Schubart, PhD, MS, MBA — Associate Professor in the Departments of Surgery, Medicine, and Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania. I am an educator and researcher in health services and outcomes and comparative effectiveness research, with training in biostatistics, epidemiology, and biomedical informatics. I am a member of the Graduate Faculty at Pennsylvania State University and teach graduate level courses in public health policy, health care system organization and delivery, and quality of care. I have worked with scientific collaborators across departments and schools at Penn State University and the University of Virginia, mentoring many medical students, residents, and junior faculty each year in a wide range of research projects. The progression of my research has increasingly focused on rare diseases and patient-centered outcomes— that is, the investigation of health outcomes that matter most to patients. Since 2015, I have been working on research projects related to the Ehlers-Danlos syndromes. I received my undergraduate education at Emory University in Finance, and my graduate education at the University of Virginia (Master of Science in Clinical Research, and Ph.D. in Education). 

Pain in classical EDS: Insights from Human and Murine Studies – Prof. Fransiska Malfait, Dr. Anne-Marie Malfait. Dr. Delfien Syx, Dr. Marlies Colman

At the request of the presenters, this presentation is not available for public viewing.

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). 

Anne-Marie Malfait, MD PhD, is Professor of Internal Medicine and The George W. Stuppy, MD, Chair of Arthritis at Rush University in Chicago IL. Anne-Marie’s research team studies the neurobiology of pain in rheumatic diseases, with a focus on the interaction between the sensory nervous system and innervated connective tissues. Anne-Marie is the Director of the NIAMS-funded Chicago Center for Musculoskeletal Pain (C-COMP) and incoming Editor-in-Chief of Osteoarthritis and Cartilage. 

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 and Pain Mechanisms in cEDS Q&A Session

Welcome to Session 3 – Dr. Christina Laukaitis

Christina Laukaitis is an associate professor in clinical genetics.  After earning her MD and PhD from the University of Illinois, she completed a residency in Internal Medicine at St. Vincent Hospital in Indianapolis, IN and a Medical Genetics fellowship at the University of Washington. She is board certified in Internal Medicine and Medical Genetics. She joined the faculty at the University of Arizona College of Medicine in 2008 and moved to Carle Health and the University of Illinois in 2021. 

Research Approaches to Rare Diseases – Dr. Brendan Lee

Dr. Brendan Lee is the Robert and Janice McNair Endowed Chair in Molecular and Human Genetics, Professor and Chairman of the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM).  Dr. Lee co-directs the joint MD Anderson Cancer Center, University of Texas Health, and BCM Rolanette and Berdon Lawrence Bone Disease Program of Texas, the BCM Center for Skeletal Medicine and Biology, and the Pamela and David Ott for Heritable Disorders of Connective Tissue. As a pediatrician and geneticist, Dr. Lee studies structural birth defects and inborn errors of metabolism. Dr. Lee identified the first genetic causes of human skeletal dysplasias that affect the growth and strength of the skeleton.  He has developed new treatments for a wide range of rare genetic diseases using small molecules, antibody and gene therapies. 

Cellular and Molecular Mechanisms in EDS: An Overview – Dr. Keren Machol

At the request of the presenter, this presentation is not available for public viewing. 

Genetic, Cellular, and Molecular Mechanisms in cEDS: Part One Q&A Session

Extracellular Matrix, Fibroblasts and Wound Healing – Dr. Ann Beal Salamone & Dr. Keren Machol

At the request of the presenters, this presentation is not available for public viewing.

Ann Beal Salamone, Board Chair, Rochal Industries, is a member of the National Academy of Engineering (NAE) and The Texas Academy of Medicine, Science & Engineering (TAMEST). She has developed products for electronics, water purification, personal care and healthcare and has invested in and served on the boards of several entrepreneurial companies, co-founded six companies, serves on several non-profit boards, and serves on the Board of Sanara MedTech (NASDAQ: SMTI). She is a cofounder of Rochal Industries (1986) and a principal inventor of Rochal’s products for wound treatment. Rochal’s products are market leaders – since 1992. She is past Chair of the ACS Polymer Chemistry Division (8,000 members) and cofounder of the Intersociety Polymer Education Council (> 600,000 K-12 science teachers trained). She is the recipient of 2002 Crystal Slipper Award Executive Woman of the Year, 2011 Healthcare Businesswomen’s Assoc. LEAD Award, and 2019 SFB Technology Innovation and Development Award. 

Type V Collagen: tendon, ligament, and cartilage pathology – Dr. Jason Lim

Joohyun (Jason) Lim, PhD, is an instructor in the department of Molecular and Human Genetics at the Baylor College of Medicine. He completed his graduate training at Washington University in St. Louis in the lab of Dr. Fanxin Long where he investigated the role of Bmp and Hif-1 signaling pathways in bone formation. He moved to Houston and joined Dr. Brendan Lee’s lab where he did his postdoctoral training under the F32 NRSA fellowship focusing on the genetic and pathological mechanisms of human connective tissue disease. His work was recognized by the Young Investigator Award at the American Society for Bone and Mineral Research (ASBMR) conference, and he was recently selected as a recipient of the ASBMR John Haddad Young Investigator Award. He is interested in understanding the molecular and cellular mechanisms that regulate the differentiation and maturation of tendon and the tendon-bone interface in aging and regeneration. 

Genetic, Cellular, and Molecular Mechanisms in cEDS: Part Two Q&A Session

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