2022 International Scientific Symposium – Day 3

Watch the presentations from Day 3 of the International Scientific Symposium 

Joint Hypermobility in Children: An Overview – 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.

Management of Children with HSD and hEDS an Empowerment Based Approach – Dr. Jane Simmonds

With more than 30 years of clinical experience and 22 years as a university based educator and researcher, Jane combines her academic role as Professor of Physiotherapy and Health Education at Great Ormond Street Institute of Child Health at University College London with clinical work at the Central Health Physiotherapy, London Hypermobility Unit where she specialises in hypermobility related disorders, PoTS and Osteoporosis. 
Jane is an active researcher and is Chair of the EDS Society International Consortium Allied Health Professions working group and a member of the EDS Society Medical and Scientific Board. She is also an advisor to EDS Support UK, HMSA and PoTS UK. Jane has authored more than 100 research and clinical education publications and webinars on hypermobility,  Ehlers Danlos Syndromes and PoTS. 

Fracture Prevalence in Children Diagnosed with Ehlers-Danlos Syndrome and Generalized Joint Hypermobility – Dr. Frances Yeung

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

Dr. Yeung is a paediatrician at the Hospital for Sick Children in Toronto, Canada. She works as a general pediatrician on the in-patient hospital wards and as a consultant pediatrician on the Suspected Child Abuse and Neglect (SCAN) team.   
 
Dr. Yeung has a keen interest in medical education and is actively involved in clinical research regarding child maltreatment. This has led to her current work regarding fractures in children with Ehlers-Danlos syndrome and hypermobility. 

Accessing Chronic Pain Services for Children and Adolescents with EDS/HSD – Dr. Verity Pacey

Dr. Verity Pacey is senior physiotherapist at The Children’s Hospital at Westmead and Senior Lecturer in Physiotherapy at Macquarie University. She has 15 years paediatric physiotherapy clinical experience during which time she has specialised in the physiotherapy management of children with connective tissue disorders with a particular focus on the management of paediatric bone health and generalised joint hypermobility and related symptoms. Verity holds a Bachelor of Applied Science from the University of Sydney, a Graduate Certificate in Sports Physiotherapy from La Trobe University and PhD from the University of Sydney. Her ongoing research is directed at providing a better understanding of the impact of connective tissue disorders on the daily life of children, and identifying the most effective ways to increase physical activity and manage associated symptoms.  

Joint Hypermobility in the Developmental Age Q&A Session

Global Gene Expression in Skin Biopsies From People With Hypermobile EDS – Dr. Christina Laukaitis

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

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. 
Her clinical practice and research focus on diagnosing and managing patients with genetic syndromes.  She has published on her work caring for people with hereditary cancer syndromes, lysosomal storage diseases, and connective tissue disorders.  Her current focus is on the Ehlers-Danlos syndromes (EDS). She has organized the hEDS GENE and hEDS ‘Omics studies to identify genes and pathways perturbed in hypermobile EDS. 

Transcriptome Profiling in Skin Fibroblasts from Individuals with hEDS and HSD – Dr. Marco Ritelli

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

Marco Ritelli is a molecular geneticist who graduated in Biology at the University of Padua and obtained the residency in Medical Genetics at the University of Brescia, Italy. He is Associate Professor of Medical Genetics and has a full-time involvement in diagnostic and research activity of the Division of Biology and Genetics, Department of Molecular and Translational Medicine at the University of Brescia. His major scientific interests and activities include clinical and molecular characterization of patients affected with heritable connective tissue disorders and the study of the pathomechanisms of these rare diseases. He is author of about 100 papers in international journals, most of them on Ehlers–Danlos syndromes and related disorders (https://www.ncbi.nlm.nih.gov/myncbi/1ZWMyxR8pdhw7k/bibliography/public/). 

Potential Therapeutic Targets for Hypermobile Ehlers-Danlos Syndrome: Lessons Learned from Proteome Analyses of Patients’ Fibroblasts – 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/). 

Proteomic Approaches Provide Mechanistic Insight into hEDS – Dr. Taylor Petrucci

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

Graduate Student in the Norris Lab at the Medical University of South Carolina. 

Lessons Learned from Gene Expression Studies Q&A Session

New Criteria for Diagnosing Joint Hypermobility and Related Disorders in Children – Dr. Louise Tofts

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

Louise is an accredited rehabilitation physician and paediatrician holding Australian fellowships in both specialties and a Masters in Sports Medicine. Louise currently practices at Kids Rehab the Children’s Hospital at Westmead and Narrabeen Sports Medicine Centre. She trained and practiced in London, England at St Bartholomews Hospital, The Royal London Hospital and Great Ormond Street Hospital for Sick Children. She has expertise in hypermobility, persistent musculoskeletal pain, fatigue, difficulty learning motor skills, congenital musculoskeletal conditions, athletes with a physical disability and exercise and rehabilitation programs for children following injury or illness. Louise is currently the Chair of the paediatric working group of the Ehlers-Danlos society. She is actively involved in research into hypermobility, achondroplasia and limb loss. 

Update on the hEDS/HSD Diagnostic Criteria Review Study – Dr. Alan Hakim

I am a Rheumatologist based in London, UK. Graduating from Cambridge University, I trained at Addenbrooke’s, Cambridge, and UCLH, London, and was a Clinical Fellow at St Thomas’ Hospital, and Senior Lecturer at Bart’s Health, London. I am a Fellow of the Royal College of Physicians, UK; Assoc. Prof. in Medicine, Penn State, USA; and an Hon. Consultant at UCLH. Experienced in hospital Director, Executive and Commissioning Board leadership, I have a breadth of skills in project management and health care delivery.   

With over 100 papers in Rheumatology and Medical Education, I am an experienced clinical academic, and have been guest editor at the Am J Med Genet and edited 6 books. I work closely with the Ehlers-Danlos Society and International Consortium (IC) on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders, am the Registry and Education Director and member of the Medical & Scientific Board at the Society and sit on the IC Steering Committee as the hEDS/HSD Group Chair. 

The Proportion of People Reporting Multi-Systemic Morbidities is Similar Across The Ehlers-Danlos Syndromes: Observations from the Ehlers-Danlos Society Global Registry – Dr. Alan Hakim

I am a Rheumatologist based in London, UK. Graduating from Cambridge University, I trained at Addenbrooke’s, Cambridge, and UCLH, London, and was a Clinical Fellow at St Thomas’ Hospital, and Senior Lecturer at Bart’s Health, London. I am a Fellow of the Royal College of Physicians, UK; Assoc. Prof. in Medicine, Penn State, USA; and an Hon. Consultant at UCLH. Experienced in hospital Director, Executive and Commissioning Board leadership, I have a breadth of skills in project management and health care delivery.   

With over 100 papers in Rheumatology and Medical Education, I am an experienced clinical academic, and have been guest editor at the Am J Med Genet and edited 6 books. I work closely with the Ehlers-Danlos Society and International Consortium (IC) on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders, am the Registry and Education Director and member of the Medical & Scientific Board at the Society and sit on the IC Steering Committee as the hEDS/HSD Group Chair. 

Physical Capacity and Physical Activity in Children with HCTD, and Specifically EDS – Lies Rombaut

Lies Rombaut (PhD) is a physiotherapist and senior postdoctoral researcher at the Center for Medical Genetics of the Ghent University Hospital. Her research field covers the heritable connective tissue disorders, especially the Ehlers-Danlos syndromes, with a current focus on functionality, pain, early-onset osteoarthritis, and treatment. Her clinical work consists of providing individualised physiotherapy treatment advice for patients with the Ehlers-Danlos syndromes and other heritable connective tissue disorders. Lies is a member of the international EDS consortium and the working groups of Allied Health Care Practitioners and hypermobile EDS. 

Biomechanical Changes in the Gastrocnemius Medius-Achilles Tendon Complex in People with Hypermobility Spectrum Disorders: A Compression Sonoelastography Study – Dr. Najla Alsiri

Dr. Alsiri is doctor of MSK rehabilitation, awarded a master degree from Cardiff University, UK, and a PhD from the University of West of England, Bristol, UK studying the impact of Hypermobility Spectrum Disorders. Dr. Alsiri is an active researcher directing her post doctoral research focus on hypermobility spectrum disorders and complex orthopedic conditions. Dr. Alsiri recently opened a central hypermobility clinic in the main orthopedic hospital in Kuwait. She is also the cofounder of Kuwait Orthopedics Research group (KOR Group) and Kuwait Orthopedics Patient Education (KOPE). 

Clinical Features and Biomechanical Gait Characteristics of Adolescents with Hypermobility Disorders Compared to Healthy Adolescents – Lisanne de Koning

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

My name is Lisanne de Koning, paediatric physical therapist and clinical epidemiologist. I’m an PhD candidate at the University of Amsterdam and employed at the University of Applied Sciences Amsterdam and University Medical Centers Amsterdam. The past 4 years I have conducted my PhD research on Connective Tissue Disorders, including EDS. In collaboration with a team of pediatric physical therapists, pediatricians, clinical geneticists and psychologists we investigated physical functioning and mental health in children with connective tissue disorders. 

Occipito-cervical Fusion Improves Pain and Disability in EDS/HSD Patients with Craniocervical Instability – Dr. Rob Rosenbaum

A board-certified neurosurgeon and medical acupuncturist who volunteers his service at Walter Reed National Military Medical Center in Bethesda, MD, Dr. Rosenbaum is well respected in the profession and community. In 25 years of practicing medicine, he has developed a passion for patient-centered, safety-focused multimodal health care. His commitment to integrated medicine was the driving force behind the authorship of the Navy’s clinical practice guidelines on back and neck pain still in use after 16 years, the introduction of true endoscopic spinal surgery at the military’s flagship joint military medical center and becoming lead champion for stem cell advocacy in the care of war wounded. His connection to patient safety reaches back 20 years when he developed one of the nation’s first safety timeout and preoperative briefs, predating the Joint Commission’s Universal Protocol by more than 8 years, insuring the highest of patient safety records. 

Muscle-Tendon Dynamics During Walking in Individuals with Hypermobile Ehlers-Danlos Syndrome – Dr. Jared Fletcher

Dr. Fletcher is an integrative physiologist with expertise in exercise physiology and muscle mechanics.  He is also the Director of the Fascicles, Tendons and Energetics Research (FasTER) Laboratory, which he established at Mount Royal University in 2021. His research program integrates physiology and biomechanics to offer new insights into the energetics and mechanics of human locomotion. The ultimate goal of this research is to examine how tendon properties change with exercise, disuse, disease or injury and how these changes relate to the metabolic cost at the muscle and whole-body levels. A greater understanding of muscle-tendon function, and the accompanying energy cost, during locomotion has important scientific implications for human motion, exercise tolerance, and rehabilitation outcomes. 

Update of hEDS Clinical Criteria in the Pediatric and Adult Population Q&A Session

Strategies to Uncover Genetic Contributors to hEDS – Dr. Joel Hirschhorn

Dr. Hirschhorn is the Chief of Endocrinology and Concordia Professor of Pediatrics and Professor of Genetics at Boston Children’s Hospital/Harvard Medical School and an Institute Member of the Broad Institute. His research focuses on genetic variation that influences human diseases and quantitative traits. He chairs the GIANT consortium, which has discovered many of the common genetic variants known to be associated with obesity and height. Other areas of study include hypermobile Ehlers Danlos syndrome (hEDS) and diabetic kidney disease. Dr. Hirschhorn received his A.B. summa cum laude in biochemistry from Harvard College in 1986 and his MD-PhD from Harvard Medical School in 1995. He completed a pediatric endocrinology fellowship at Boston Children’s Hospital and postdoctoral training at the Whitehead/MIT Center for Genome Research. He has received multiple awards, including the Society for Pediatric Research E. Mead Johnson Award, and is a member of the National Academy of Medicine. 

Molecular Update on hEDS – Dr. Christina Laukaitis

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

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. 
 
Her clinical practice and research focus on diagnosing and managing patients with genetic syndromes.  She has published on her work caring for people with hereditary cancer syndromes, lysosomal storage diseases, and connective tissue disorders.  Her current focus is on the Ehlers-Danlos syndromes (EDS). She has organized the hEDS GENE and hEDS ‘Omics studies to identify genes and pathways perturbed in hypermobile EDS. 

Genetic and Biological Updates on hEDS – Dr. Cortney Gensemmer

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Lessons Learned from Molecular Studies Q&A Session

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