2022 Global Learning Conference – Day 3

Watch the presentations from Day 3 of the 2022 Global Learning Conference

Head and Neck Issues – Dr. David Saperstein

Dr. Saperstein is the director of the Center for Complex Neurology, EDS & POTS in Phoenix, AZ. His practice focuses on the diagnosis and management of EDS as well as autonomic and neuromuscular disorders.

Dr. Saperstein is a graduate of Boston University School of Medicine. He completed a Neurology residency at Wilford Hall USAF Medical Center in San Antonio, Texas, followed by a Neuromuscular Disease/Clinical Neurophysiology fellowship at the University of Texas Southwestern Medical Center in Dallas. He is board certified in Neurology, Neuromuscular Medicine, and Clinical Neurophysiology.

Dr. Saperstein is a Clinical Associate Professor of Neurology at the University of Arizona College of Medicine. He is well-known for his research and publications regarding immune-mediated and small fiber neuropathies. Dr. Saperstein’s clinical and research interests include a broad array of neuromuscular and autonomic disorders.

Facial Pain and TMJ Disorders – Dr. Shar Hashemi

Dual fellowship trained hand and peripheral nerve surgeon with a special interest in hEDS hypermobile patients with peripheral nerve conditions.  Their multidisciplinary approach evaluates the 43 pairs of nerves with regional specialists (e.g: neuro-spine, total joint, and foot and ankle surgery), geneticists, neurologists, physiatrists, pain psychologists, and therapists.  

Are You Choking? Throat Problems and Care in EDS – Prof. Martin Birchall

I am an academic surgeon specializing in disorders of the throat. I have a research programme devoted to restoring function in those struggling to speak, swallow and breathe. With Gary Wood, speech therapist, I have studied the throat presentations of people with hypermobility/EDS, performed an international survey and developed treatment algorithms. I am a keen road cyclist and Liverpool supporter. 

Tips & Tricks For Managing Autonomic Concerns – Emily Rich

Emily Rich, MOT, OTR/L is an occupational therapist in Tucson, AZ where she has the privilege of serving adolescents and adults with chronic conditions. Ms. Rich has special interests in treating individuals with Ehlers-Danlos syndromes and forms of dysautonomia. As an OT, Emily views daily live activities as opportunities for rehabilitation and supports clients in increasing participation and quality of life. Emily is currently studying in a Ph.D. program at Texas Woman’s University where she previously received a Master of Occupational Therapy degree. She regularly gives lectures on EDS and Dysautonomia for health care professionals and community members and has published several manuscripts on these diagnoses. Her current research is primarily focused on POTS in rehabilitation. You can follow along with her EDS and POTS-focused occupational therapy Instagram @EmilyRichOT.

The Role and Treatment of Autonomic Dysfunction in EDS-Associated Sleep Disorders – Dr. Alan Pocinki

Dr. Pocinki is a general internist in Rockville, Maryland. He has been interested in the joint hypermobility syndromes and related autonomic and sleep disorders since the late 1990’s, and has spoken often on these subjects at local and national meetings.
He has received a variety of awards for service to his profession and his patients, most recently the American College of Physicians Leadership Award and the Ehlers Danlos Society’s Lifetime Achievement Award.

Managing Gastrointestinal Autonomic Complications – Dr. Gisela Chelimsky

Gisela Chelimsky, MD, is Professor of Pediatrics at the Virginia Commonwealth University. She is the chief of Pediatric Gastroenterology at Children’s Hospital of Richmond. She directs the Pediatric Autonomic program. Dr. Chelimsky was previously Professor of Pediatrics at the Medical College of Wisconsin and Case Western Reserve University School of Medicine in Cleveland. A graduate of Medical School at the University of Buenos Aires, Argentina, Dr. Chelimsky completed residency in Pediatrics and pediatric gastroenterology fellowship at Rainbow Babies and Children’s Hospital in Cleveland Ohio. Dr. Chelimsky joined the faculty at Case Western in 1996 and rose to the rank of Professor in 2011. She is also board certified in Autonomic Disorders.

Dr. Chelimsky has published > 50 original articles, many review articles, contributed to 20 books or chapters, and made multiple presentations at national and international level.

Head and Neck Concerns & Autonomic Dysfunction Q&A Session

Gastrointestinal Concerns in HSD and EDS – Dr. Laura Pace

Founder and CEO of Metrodora Institute – an innovative, multidisciplinary medical institute focused on the care and cure of neuroimmune axis disorders. A leading neurogastroenterologist, board certified from the ABIM in Internal Medicine and Gastroenterology, and from the UCNS in Autonomic Disorders. She has been a leader in the rare disease space for many years has served as a lead for the NIH UDN, Medical Board member for Dysautonomia International and Chair of the Gastrointestinal Working Group for the Ehlers-Danlos Society. Dr. Pace holds a BS in Chemistry from Stony Brook University, an MD and PhD in Neuroscience from the University of Illinois. She has advanced research training in the areas of neuroscience, microbial physiology, evolution and genetics, as well as analytical chemistry studying host-microbe interactions. Additionally, she has advanced clinical training in the physiology, diagnostics, and clinical management of neurogastrointestinal disorders and medical genetics.

Diet, Supplements, and Nutrition – Dr. Heidi Collins

Dr. Collins received her MD from Northwestern University and completed residency in Physical Medicine and Rehabilitation at the University of Washington. She is a Board Certified Physiatrist who provides care to patients with a variety of musculoskeletal and neurologic issues, including traumatic brain injury, spinal cord injury, multiple trauma, amputation, stroke, cancers affecting the nervous system and/or functional mobility, multiple sclerosis,  progressive neurodegenerative disorders, muscular dystrophy / movement disorders, chronic musculoskeletal or neuropathic pain,  work-related injuries, and general rehabilitation, etc. She provides electrodiagnostic testing and is certified to attend patients undergoing Hyperbaric Oxygen Therapy.

Hypermobility and the Pelvic Floor – Dr. John Heusinkveld

Dr. John Heusinkveld is an assistant professor and a Board Certified specialist in Female Pelvic Medicine and Reconstructive Surgery with Banner – University Medical Center Tucson’s Department of Obstetrics and Gynecology. He has over 13 years of experience in surgical and nonsurgical treatment of pelvic floor disorders such as pelvic organ prolapse and urinary incontinence. He also practices general gynecology. Dr. Heusinkveld has worked extensively with underserved Native American populations, and also internationally in Afghanistan, where he helped to rebuild womens’ health care in the post-Taliban era by training Afghan physicians in modern gynecologic surgery. He has been a University faculty member since 2011, and his professional memberships include the American Urogynecologic Society and the AAGL.

MCAD Manifestations of GU and GI Disease – Dr. Anne Maitland

Anne Maitland received a Bachelor of Science, in the biology, from Yale University and then earned her doctorates in Medicine and Philosophy from the University of Pennsylvania. Dr. Maitland completed an Internal Medicine residency at Brigham and Women’s Hospital in Boston, and then Allergy & Clinical Immunology Fellowship training at Brigham and Women’s Hospital and Icahn School of Medicine at Mt Sinai in New York.  She is an Assistant Professor at Mt Sinai, in the Department of Medicine- Allergy/Immunology division, delivers in-office care, in Tarrytown, NY, as well as at the multi-discipline EDS center at Mt Sinai-South Nassau Community Hospital, and telehealth consultations, with Clinical Paradigms. Dr. Maitland is a member of Immunology faculty of the National Medical Association and serves as chair of the Mast Cell Disorders workgroups for American Academy of Allergy, Asthma and Immunology and the Ehlers-Danlos Syndromes International Consortium.

Gastrointestinal & Urogynecological Concerns Q&A Session

Managing Deconditioning – Dr. Leslie Russek

Leslie Russek, PT, DPT, PhD, OCS, is Professor Emeritus of Physical Therapy at Clarkson University. She is an Orthopaedic Certified Specialist physical therapist with over 30 years of clinical practice experience with 25 years working with patients with hypermobile Ehlers-Danlos Syndrome. Her research and clinical interests include hypermobile EDS, fibromyalgia, headaches and chronic pain. Dr. Russek has presented nationally and internationally on HSD/hEDS, headaches, and chronic pain management, and she regularly presents to community members. She is currently leading the Allied Health Professionals ECHO Telementoring series for EDS in North America, serving on the Allied Health Working Group of the International Consortium of Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders, and participating on the National Academy of Sciences, Engineering and Medicine Committee on Selected Heritable Connective Tissue Disorders and Disability.

Clinical Decision Making in Shoulder Hypermobility – The Who, What, When, Where, and Why – Dr. Nimish Mittal

Dr. Nimish Mittal is an Assistant Professor at the Temerty Faculty of Medicine, University of Toronto, Division of Physical Medicine and Rehabilitation. Dr. Mittal holds a cross-appointment in the Department of Anesthesiology and Pain Medicine and the Faculty of Kinesiology and Physical Education. He holds a Master’s in Health Research Methodology.

Dr. Mittal has a particular interest in developing treatment pathways and models of care for multisystemic problems in hypermobility related complex connective tissue disorders. He is also passionate about advancement of innovative best clinical practices in chronic musculoskeletal joint pains with use of image guided injections. He is an invited speaker at several international physiatry and pain conferences and has published several articles on image guided interventions in international peer-reviewed journals.

Living and Aging with Hypermobility Syndromes – Dr. Irman Forghani

Irman Forghani, M.D. is an assistant professor of human genetics at the University of Miami, Miller School of Medicine. She is double-boarded in medical genetics and internal medicine. She joined the University of Miami in 2016 and has been practicing as a clinical geneticist since then.

Dr. Forghani, is the director of the Hereditary Connective Tissue Disorder, Multidisciplinary Clinic at the University of Miami. She is a member of the Ehlers-Danlos Society International Consortium Peer Review Panel. She is a co-investigator in the Undiagnosed Diseases Network (UDN) research study and has authored and co-authored multiple scientific articles and abstracts in reputable peer-reviewed medical journals. In addition to being a clinician and a researcher, Dr. Forghani teaches fellows, residents, and medical students and has mentored many medical students and residents in different research projects. She is also very active in community events to raise awareness about inherited conditions.

Blood and Organ Donation in Ehlers-Danlos Syndrome – Dr. Clair Francomano

Dr. Clair A. Francomano is an internist and medical geneticist who is widely recognized for her work in the hereditary disorders of connective tissue.  Dr. Francomano is Professor of Medical and Molecular Genetics at the Indiana University School of Medicine in Indianapolis, Indiana. She serves as Chair of the Medical and Science Board for the Ehlers-Danlos Society and as a member of the Steering Committee for the International Consortium on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. Dr. Francomano has published over 150 articles in the peer-reviewed literature and has authored or edited four books.

Aging Q&A Session

New Insight into Genetics of hEDS and Hope For the Future – Dr. Chip Norris, Dr. Christina Laukaitis, Dr. Clair Francomano

This video presentation is available to view on our Whova event app for a limited time will not be shared further.

Dr. Norris graduated from MUSC in 2000 with a PhD in biomedical sciences with a focus on genetics and molecular biology. After two postdoctoral fellowships he opened his independent lab in 2007.

Dr. Norris rose precipitously through the ranks and is currently full professor with tenure in the department of regenerative medicine and cell biology. He holds dual appointments in Neurosurgery and Medicine. His integrated lab has orchestrated significant breakthroughs in the fields of genetics, developmental biology and connective tissue diseases with papers in Science Translation, Circulation, Nature Genetics and Nature. Through international collaborations, Dr. Norris has become recognized globally for his work and vision and is frequently a sought after speaker. He has published over 100 scientific articles and has given >200 talks globally. He has a strong dedication to student training and has mentored >100 students either directly or in his capacity as former graduate coordinator.

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. Dr. Francomano has been involved in the care of patients with Ehlers-Danlos syndrome throughout her career. She is currently a professor of medical and molecular genetics at the IU School of Medicine and director of the Residency Training Program in Genetics at IU.

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 in Classical Ehlers-Danlos Syndrome – Unfolding Key Molecular Mechanisms On Our Way to Disease Specific Treatments – Dr. Keren Machol

This video presentation is available to view on our Whova event app for a limited time will not be shared further.

Keren Machol, MD. PhD, is an assistant professor at the Molecular and Human Genetics department at Baylor College of Medicine. She completed a Clinical Genetics residency at Baylor College of Medicine in 2016 and is a board-certified clinical geneticist since 2017. She combines both clinical work and translational research. She was a clinical genetics academic research fellow between 2016 and 2017 and completed the RDCRN Clinical Research Training program (R25 supported program) in 2018. During the past years, she has been working on several research projects. She is investigating molecular mechanisms involved in abnormal wound healing in classical EDS and she is working on identifying key players in the pathogenicity of hypermobile EDS. She sees patients in the General Genetics clinic, the Mitochondrial clinic, and in the Skeletal Dysplasia clinic at Texas Children’s Hospital. She has been involved in multiple educational activities in the department for molecular and human genetics.

Rationale and Updates for a Trial of Enzastaurin 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. 

Research Plans for The Ehlers-Danlos Society – 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. Dr. Francomano has been involved in the care of patients with Ehlers-Danlos syndrome throughout her career. She is currently a professor of medical and molecular genetics at the IU School of Medicine and director of the Residency Training Program in Genetics at IU.

What We Don’t Know About EDS – Dr. Fraser Henderson

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Community Voices – Lisa Marie Schmidt

Please note that these presentations and materials are provided for your personal, educational use. They remain the intellectual property of the presenters with all rights reserved, and cannot be reproduced without permission. The Society is not responsible for the content of presentations.

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