Appendix D

Biographical Sketches of Committee Members

Paul A. Volberding, M.D. (Chair), is professor emeritus at the University of California, San Francisco (UCSF) School of Medicine; former codirector and principal investigator of the UCSF-Gladstone Center for AIDS Research; and director of the UCSF AIDS Research Institute. Trained in medical oncology, Dr. Volberding became involved in the early AIDS epidemic in San Francisco and has worked primarily in the development of antiretroviral therapy but also in clinical trials in HIV-related malignancies. He is a member of the National Academy of Medicine and currently serves on the National Academies of Sciences, Engineering, and Medicine’s Standing Committee of Medical and Vocational Experts for the Social Security Administration’s Disability Programs. Dr. Volberding has also chaired numerous National Academies committees, including several for the Social Security Administration—most recently, the Committee on Childhood Cancers and Disability.

Rebecca Bascom, M.D., M.P.H., is professor in the departments of Medicine and Public Health Sciences and active staff at Penn State College of Medicine. She trained at the Johns Hopkins Hospital and School of Public Health in internal medicine, pulmonary and critical care, preventive and occupational medicine, and inhalation toxicology. Dr. Bascom has worked with individuals and employers to devise workplace accommodations when medical conditions impact a worker’s ability to do the central duties of their job. She is active in clinical research on pulmonary fibrosis, modified-risk tobacco products, and Ehlers-Danlos syndromes (EDS). Dr. Bascom is a founding member of the EDS Comorbidity Coalition

(now called the Community Coalition), and she facilitates Penn State’s EDS Patient Research Advisory Group and its Stretch Project, which is funded by the Patient-Centered Outcomes Research Institute and based in the Extension for Community Healthcare. She has previously served as a member of multiple National Academies’ committees, including, most recently, the Committee on Assessing Toxicologic Risks to Human Subjects Used in Controlled Exposure Studies of Environmental Pollutants and the Committee on Scientific Standards for Studies on Modified Risk Tobacco Products.

Adam D. Bitterman, D.O., F.A.A.O.S., is assistant professor of orthopaedic surgery at the Donald and Barbara Zucker School of Medicine at Hofstra/Northwell. He is a board certified orthopaedic specialist with a focus in treating conditions of the lower leg. His clinical interests include arthritis of the foot and ankle, deformity correction, Achilles tendon disorders, connective tissue disorders, and sports-related injuries to the ankle and foot. Dr. Bitterman is a graduate of Binghamton University and pursued his medical education at the New York College of Osteopathic Medicine. He completed his orthopaedic surgery residency at North Shore-LIJ Plainview Orthopaedic Consortium before graduating from Rush University Medical Center in Chicago, Illinois, where he completed his foot-and-ankle fellowship training. Dr. Bitterman serves as chair of the Department of Orthopaedic Surgery at Huntington Hospital and is co-chair of the Research Committee for the Huntington Hospital Orthopaedic Surgery Residency program. His research interests include clinical outcomes after foot-and-ankle surgery, Achilles tendon pathology, connective tissue disorders, patient comprehension, infection control, and residency training. He has published on Marfan syndrome and is a member of the Professional Advisory Board of The Marfan Foundation.

Antonio Bulbena-Vilarrasa, M.D., Ph.D., M.Sc., is distinguished professor of psychiatry and chair of the Department of Psychiatry at the Universitat Autònoma de Barcelona. He has created and coordinated several networks of services, including general hospital, psychiatric hospital, community care, inpatient and outpatient adult and child psychiatry, mobile teams, and inpatient and outpatient addiction psychiatry, which has become the largest psychiatric network in Europe. Dr. Bulbena’s main research focus is the interface between somatic and mental illnesses, especially between new somatic biomarkers and anxiety disorders and related conditions. In particular, he has studied the relationship between anxiety disorders and joint hypermobility syndrome (hypermobile-type Ehlers-Danlos), which he originally described in 1988. Recently, he developed a new model of anxiety disorders based on the relationship between the connective tissue and the

autonomic nervous system, called the “neuroconnective phenotype.” He is chair of the Psychiatric & Psychological Aspects Working Group of the International Consortium of Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. Dr. Bulbena trained in top academic institutions in Spain and in the United Kingdom and has more than 200 publications in respected medical journals.

Pradeep Chopra, M.D., is assistant professor (clinical) at Brown Medical School and director of the Center for Complex Conditions, Rhode Island. He is board certified in pain medicine, and his area of interest is complex chronic pain conditions. Dr. Chopra is a recognized international expert on many of the complex pain conditions, including connective tissue disorders such as Ehlers-Danlos syndromes, Marfan syndrome, and complex regional pain syndrome. He has authored and coauthored multiple peer-reviewed journal articles and books on such conditions. Dr. Chopra’s primary training is in anesthesia and critical care medicine, with a fellowship in pain medicine, all from Harvard Medical School. He is a member of the Pain Management Working Group of the International Consortium of Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders, and is the recipient of multiple awards from Harvard, as well as the Schwartz Center Compassionate Care Award.

Harry C. Dietz, III, M.D. (through July 2021), is Victor A. McKusick professor of medicine and genetics and an investigator at the Howard Hughes Medical Institute at the Johns Hopkins University School of Medicine. Recognized as a leading authority on Marfan syndrome and related connective tissue disorders, Dr. Dietz and his team have made critical contributions to the clinical and molecular characterization of many vascular connective tissue disorders, including Marfan, Loeys-Dietz, and Shprintzen-Goldberg syndromes. His group has pioneered therapeutic strategies for these and other conditions, including vascular Ehlers-Danlos syndrome. Dr. Dietz leads a multidisciplinary team focused on the clinical care of patients with connective tissue disorders and has a long history of service to patient advocacy groups, including the DEFY Foundation. Currently, he serves on the Professional Advisory Board of The Marfan Foundation and as chair of the Medical Advisory Council of the Loeys-Dietz Syndrome Foundation. He has received more than 50 national and international awards and honors, including the Antoine Marfan Award from the National Marfan Foundation and the Art of Listening Award from the Genetic Alliance. Dr. Dietz received his medical degree from the State University of New York Upstate School of Medicine and completed a pediatric residency and a cardiology fellowship at Johns Hopkins University School of Medicine before joining its faculty. He is a member of both the National Academy

of Medicine and the National Academy of Sciences and previously served on the National Academies’ Committee on Accelerating Rare Diseases Research and Orphan Product Development.

Clair A. Francomano, M.D., is professor and director of the Medical Genetics Residency in the Department of Medical and Molecular Genetics at Indiana University (IU) School of Medicine and serves as director of the Ehlers-Danlos Society Center for the Ehlers-Danlos Syndromes at IU Health. Her academic medical career has been dedicated to the clinical and molecular aspects of the hereditary disorders of connective tissue, including Marfan and Stickler syndromes, a variety of skeletal dysplasias, and the Ehlers-Danlos syndromes (EDS), which have been her primary focus during the past 15 years. Dr. Francomano has worked closely with the Ehlers-Danlos Society and the International Consortium on the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders, currently chairing the Medical and Scientific Board for the Ehlers-Danlos Society and serving on the Steering Committee for the International Consortium. She is a member of the medical board of the Ehlers-Danlos Syndrome Research Foundation and is a member of the EDS Community Coalition. The Ehlers-Danlos Society awarded Dr. Francomano their Lifetime Achievement Award in 2019 for her contributions to persons living with EDS. Dr. Francomano has edited four books and published over 150 papers in the peer-reviewed biomedical literature.

Walter R. Frontera, M.D., Ph.D., F.R.C.P., is professor of physical medicine and rehabilitation and physiology at the University of Puerto Rico School of Medicine. He formerly served as inaugural chair and professor of physical medicine and rehabilitation at Harvard Medical School and Vanderbilt University School of Medicine. Dr. Frontera’s main research interest is the mechanisms underlying muscle atrophy and weakness in the elderly, and the development of rehabilitative interventions for sarcopenia. He is editor in chief of the American Journal of Physical Medicine and Rehabilitation and the immediate past president of the International Society of Physical and Rehabilitation Medicine. Dr. Frontera received his medical degree from the University of Puerto Rico School of Medicine and a Ph.D. in applied anatomy and physiology from Boston University. He is a member of the National Academy of Medicine and has served on numerous National Academies’ committees, including the Standing Committee of Medical and Vocational Experts for the Social Security Administration’s Disability Programs, the Committee on the Use of Selected Assistive Products and Technologies in Eliminating or Reducing the Effects of Impairments, and the Planning Committee on Long-Term Health Effects Stemming from

COVID-19 and Implications for the Social Security Administration. Dr. Frontera is also a fellow of the Royal College of Physicians in London.

Petra M. Klinge, M.D., Ph.D., is director of the Pediatric Neurosurgery Division and director of the Research Center and Clinic for Cerebrospinal Fluid Disorders at the Neurosurgery Foundation, and professor in the Department of Neurosurgery at the Warren Alpert Medical School of Brown University. She specializes in the surgical treatment of patients with brain tumors, hydrocephalus, and Alzheimer’s disease, as well as pediatric diseases and treatment of congenital diseases like Chiari and spinal malformations. Dr. Klinge is a member of the American Association of Neurosurgeons and the Congress of Neurological Surgeons. She is editor in chief of the Elsevier journal Interdisciplinary Neurosurgery: Advanced Techniques and Case Management and associate editor of Clinical Neurology and Neurosurgery. Dr. Klinge is a member of the executive committee of the Scientific Education & Advisory Board of the Bobby Jones Chiari & Syringomyelia Foundation and is a member and past president of the International Society for Hydrocephalus and Cerebrospinal Fluid Disorders. She serves on the Ehlers-Danlos Syndromes Community Coalition and the Neurology Working Group of the International Consortium of Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. Dr. Klinge received her medical degree at the University of Kiel and completed her neurosurgical residency at Hannover Medical School in Germany. Since 2014, she has specialized in the diagnosis and treatment of neurological and neurosurgical spine and brain conditions associated with connective tissue disorders and conducts specific research to advance the science and recognition of the clinical pathology and provides educational presentations on these conditions.

Barbara L. Kornblau, J.D., O.T.R/L., F.A.O.T.A., C.C.M., C.D.M.S., C.P.E., is a professor in and program director of the Occupational Therapy Program for Idaho State University. She also serves as a consultant to the United Spinal Association, the Coalition for Disability Health Equity, and previously served as a consultant to the American Association on Health and Disability on disability access and disability employment and policy issues. Ms. Kornblau is past president of the American Occupational Therapy Association, a former Robert Wood Johnson Health Policy Fellow in the Offices of Senators Harkin and Rockefeller, an attorney, a Certified Case Manager, a Certified Disability Management Specialist, a Certified Pain Educator, and a person with a disability. She is recognized as an expert in disability policy, return to work issues, assistive technology, and reasonable accommodations under the Americans with Disabilities Act and the Rehabilitation Act. She received a J.D. from the University of Miami and an occupational therapy degree from the University of Wisconsin–Madison.

She previously served on two National Academies’ committees for the Social Security Administration, including the Committee on Functional Assessment for Adults with Disabilities.

Deborah Krakow, M.D., is a professor in and chair of the Department of Obstetrics and Gynecology and professor of human genetics, pediatrics, and orthopaedic surgery at the David Geffen School of Medicine at the University of California, Los Angeles (UCLA). She obtained her medical degree from the Chicago Medical School and completed her residency in obstetrics and gynecology, and fellowships in maternal fetal medicine and medical genetics. Dr. Krakow has a 20-year career in caring for patients with and studying the molecular biology underlying connective tissue disorders, and she has published more than 100 articles on heritable disorders of the musculoskeletal system. She is codirector of the International Skeletal Dysplasia Registry and serves on the medical advisory boards of the Osteogenesis Imperfecta Foundation and Little People of America.

Cheryl Lynn Maier, M.D., Ph.D., is medical director of the Special Coagulation Laboratory and assistant professor in the Department of Pathology and Laboratory Medicine at Emory University School of Medicine. She completed her M.D. and Ph.D. at Yale School of Medicine, with a concentration in immunology, before completing a pathology residency and a clinical fellowship in transfusion medicine and coagulation at Emory. Dr. Maier also completed a 2-year postdoctoral research fellowship investigating the immune response to transfused blood products. More recently, she secured extramural funding from the National Heart, Lung, and Blood Institute with a K99/R00 career development award, studying platelet immunology. Dr. Maier’s interest in heritable disorders of connective tissue (HDCT) relates to the oftentimes subtle yet potentially significant bleeding diatheses these patients experience. She is particularly interested in ways that defects in collagen and other tissues contribute to bleeding in patients with HDCT, as well as any associated consequences on innate and adaptive immune responses in these patients.

Anne L. Maitland, M.D., Ph.D., is assistant professor in the Department of Medicine, Division of Allergy and Clinical Immunology, at the Icahn School of Medicine at Mount Sinai and attending physician at the Mount Sinai South Nassau Chiari EDS Program. She is also medical director of Comprehensive Allergy & Asthma Care and of 3 Pillars Therapeutics. Dr. Maitland serves as chair of the American Academy of Allergy, Asthma, and Immunology (AAAAI) Mast Cell Activation Disorders Committee and of the Allergy & Immunology Working Group of the International Consortium of Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. She

serves as an expert consultant for facilitating the North America Allied Health Providers Extension for Community Healthcare Outcomes educational program for the Ehlers-Danlos Society. Dr. Maitland is a member of the Ehlers-Danlos Syndromes Community Coalition and of the medical board of the Ehlers-Danlos Syndrome Research Foundation. In addition, she is an active member of the AAAAI committee to meet the needs of the underserved, as well as of the National Medical Association Allergy & Immunology faculty. Dr. Maitland is active in local societies and the surrounding communities to increase awareness of immune-mediated disorders, including primary immune deficiency and mast cell disorders. She is a fellow of the American College of Allergy, Asthma and Immunology. Her clinical interests include efforts to improve the surveillance, diagnosis, and management of individuals affected by immediate and delayed disorders and those who are susceptible to severe or recurrent infections, as well as the diagnosis and treatment of mast cell disorders in the context of connective tissue disorders. Dr. Maitland previously served on speakers’ bureaus and advisory committees for Regeneron, Genentech, and Sanofi.

Reed E. Pyeritz, M.D., Ph.D., recently retired as William Smilow Professor of Medicine and is emeritus professor of genetics at the Perelman School of Medicine at the University of Pennsylvania. His field of clinical service, research, and teaching was medical genetics, for which he was a member of the first class of professionals to receive certification by the American Board of Medical Genetics. From 1978 to the present, his clinical and research interests have focused on heritable disorders of connective tissue, particularly Marfan syndrome. Dr. Pyeritz was founder of the National Marfan Foundation (now The Marfan Foundation) in 1980 and served as chair of its Professional Advisory Board, of which he remains a member, for many years. He has published more than 300 research papers, reviews, and chapters on Marfan syndrome and related disorders, such as vascular Ehlers-Danlos syndrome. He is coeditor of Principles and Practice of Medical Genetics and Genomics.

Leslie N. Russek, Ph.D., P.T., D.P.T., O.C.S., is professor emeritus in the Physical Therapy Department at Clarkson University, where she taught musculoskeletal physical therapy, foundational sciences, and research methods. She has been researching and publishing in the area of hypermobile Ehlers-Danlos syndrome (hEDS) for more than 20 years. She has also published in the areas of fibromyalgia and chronic pain, including a textbook chapter on chronic pain. Dr. Russek is a member of the Allied Health Working Group of the International Consortium of Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. She serves as an expert consultant for facilitating the North America Allied Health Providers

Extension for Community Healthcare Outcomes educational program for the Ehlers-Danlos Society. Dr. Russek continues to treat patients with hypermobility spectrum disorder (HSD) and hEDS part time and frequently provides lectures about HSD to patients and health care providers.

Eric Lowell Singman, M.D., Ph.D., is professor at the University of Maryland School of Medicine’s Department of Ophthalmology and Visual Sciences. A board certified ophthalmologist, he has subspecialty fellowship training in neuro-ophthalmology. After his fellowship, Dr. Singman practiced neuro-ophthalmology for 14 years in Lancaster, Pennsylvania, and was an attending neuro-ophthalmologist at the Lancaster Rehabilitation Hospital, as well as at Sinai Hospital of Baltimore’s Comprehensive Concussion Clinic. Previously, he was associate professor of ophthalmology at the Wilmer Eye Institute at the Johns Hopkins Hospital and division chief at the Program of All-Inclusive Care for the Elderly clinic. He founded and directed the Wilmer Clinic for Vision Concerns after Traumatic Brain Injury at Johns Hopkins. He also co-founded the Wilmer Genetic Eye Disease Center. Dr. Singman has served as a subject matter expert on brain injury at the Department of Defense (DoD) Vision Center of Excellence on multiple occasions and has chaired grant review committees for the DoD Vision Research Program. His clinical expertise includes diagnosis of visual dysfunction after brain injury, as well as the impact of Ehlers-Danlos syndromes (EDS) on vision. His research interests have focused on automation of the eye examination, using big data to explore the impact of brain injury on vision and the visual sequelae of hypermobile EDS. Dr. Singman also serves as a district medical adviser for Federal Occupational Health as well as the U.S. Marshall Service, particularly in the area of evaluating visual system disability claim reports for federal employees with work-related injuries.