In 2014, a group of physicians who are passionate about treating people with skeletal dysplasia identified the need for an annual, international meeting of healthcare professionals who specialize in the management of skeletal dysplasia. The purpose of these annual meetings was to “provide a multidisciplinary forum for scientific exchange and education in the expanding field of skeletal dysplasia.”
The founding members of the SDMC identified a group of like-minded healthcare professionals, who now make up the Skeletal Dysplasia Management Consortium (SDMC).
Executive Founding Committee
Klane K. White, MD
Seattle Children’s Hospital
Klane K. White, M.D., M.S., is a Pediatric Orthopedic Surgeon and Director of the Skeletal Health Program at Seattle Childrens Hospital.
His internship in general surgery and residency in orthopedic surgery were completed at the University of California San Diego, where he also served as an NIH fellow in orthopedic and basic science research. Dr. White completed a fellowship in pediatric orthopedics and scoliosis at Texas Scottish Rite Hospital for Children in Dallas. His specialty interests include the treatment of pediatric hip disease, scoliosis/spinal deformity and skeletal dysplasias, with a specific interest in MPS disorders. Dr. White is a member of the American Academy of Orthopedic Surgeons, the Scoliosis Research Society and Pediatric Orthopaedic Society of North America, and serves as Chair of the National MPS Society Technical (Research) Committee.
For more information about Dr. White, including a full list of his publications, please visit his institution website.
William G. Mackenzie, MD
Nemours/Alfred I. duPont Hospital for Children
William Mackenzie, M.D., is Chairman of the Department of Orthopaedic Surgery, is the holder of the Shands/MacEwen Endowed Chair at the Nemours, Alfred I. duPont Hospital for Children and is a Professor of Orthopaedic Surgery at Jefferson Medical College.
Dr. Mackenzie is Chairman of the Medical Advisory Board for Little People of America and Medical Director of the Dwarf Athletic Association of America. He is the past President of the Limb Lengthening and Reconstruction Society. Dr. Mackenzie is certified by the American Board of Orthopaedic Surgery and is a Fellow of the American College of Surgeons and the Royal College of Physicians and Surgeons of Canada.
His clinical interests include skeletal dysplasia, limb length discrepancy, limb alignment and muscle diseases. With his expertise in these areas he is frequently invited to teach and lecture locally, nationally and internationally.
Dr. Mackenzie earned his medical degree and completed his residency at the University of British Columbia. He completed his internship at McGill University and completed his fellowship in pediatric orthopaedics at the Nemours/Alfred I. duPont Hospital for Children.
Dr. Mackenzie is an active member in numerous societies and served on the Board of Directors of the Pediatric Orthopaedic Society of North America. His distinctions include being named “Best Doctors in America” and “Guide to America’s Top Surgeons” since 2002. He has over 100 publications in peer-reviewed journals and has written 17 book chapters.
For more information about Dr. Mackenzie, including a full list of his publications, please visit his institution website.
Ravi Savarirayan, M.B.B.S.,
F.R.A.C.P., H.G.S.A., MD
Murdoch Childrens Research Institute, Royal Children’s Hospital
Professor Ravi Savarirayan is a clinical geneticist and Group Leader of Skeletal Biology and Disease at Murdoch Childrens Research Institute. He is also Head of Clinical Genetics Services at the Victorian Clinical Genetic Services.
Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, Professorial fellow at the University of Melbourne, and Group leader (Musculoskeletal research) at Murdoch Children’s Research Institute, Victoria, Australia.
Professor Savarirayan received his MBBS from the University of Adelaide, Australia in 1990 and became a Fellow of the Royal Australasian College of Physicians in 1997. He was certified as a specialist in Clinical Genetics by the Human Genetics Society of Australasia in 1998, and was awarded his Doctorate of Medicine from the University of Melbourne in 2004, for his thesis “Clinical and molecular studies in the Osteochondrodysplasias.” He was the youngest recipient of the Fulbright Professional Scholarship for Australia in 1998, and took his fellowship up at University of California, Los Angeles (UCLA).
Professor Savarirayan is a founding member of the Skeletal Dysplasia Management Consortium and is the current Chair of the Advanced Training Committee in Clinical Genetics, Royal Australasian College of Physicians. He was the first Australian elected President of the International Skeletal Dysplasia Society, and has been invited to give plenary talks at major scientific conferences in North and South America, Asia, Europe, the Middle East and Australasia.
Professor Savarirayan’s primary research focus is on inherited disorders of the skeleton causing short stature, arthritis and osteoporosis. He has published over 170 peer-reviewed articles, collaborating with researchers from over 40 countries. He serves on the editorial boards several scientific journals, including Human Mutation, European Journal of Human Genetics, American Journal of Medical Genetics, and Journal of Medical Genetics.
His current clinical trial activities are pioneering disruptive new therapies for the treatment of inherited bone disorders, and he is a passionate advocate for equal access and uptake of these new genetic technologies and therapies.
For more information about Dr. Savarirayan, including a full list of his publications, please visit his institution website.
Michael J. Goldberg, MD
Seattle Children’s Hospital
Michael J. Goldberg, MD is Clinical Professor of Orthopaedics at the University of Washington School of Medicine.
Most of his professional career was spent in Boston where he was the Henry H. Banks Distinguished Professor of Orthopaedics at Tufts University School of Medicine, and Chairman of the Department of Orthopaedics at Tufts Medical Center. Dr. Goldberg’s major areas of clinical interest have been in the diagnosis and management of children with syndromes, complex birth defects, and skeletal dysplasias. He has been a vocal advocate for measuring outcomes and functional performance of children undergoing orthopaedic treatments and helped develop some of the tools now in common usage.
Born in Brooklyn, New York, Dr. Goldberg was educated at Cornell University, State University of New York College of Medicine, Columbia Presbyterian Medical Center, and the Combined Harvard Orthopaedic Program. He has published widely, including the textbook “The Dysmorphic Child”; and currently sits on the editorial boards of the Journal of Pediatric Orthopaedics and the Journal of Childrens Orthopaedics. He has lectured both nationally and internationally, and was awarded Honorary Membership in the Pediatric Orthopaedic Society of Argentina; of Brazil; and of Italy; and the Sonia Machanic Fellowship in the College of Medicine of South Africa. He has received recognition awards from POSNA, the American Academy of Pediatrics, and the Arthritis Foundation. Dr. Goldberg has served in leadership positions and elected office at the Pediatric Orthopaedic Society of North America, the American Academy of Pediatrics, the American Academy of Orthopaedic Surgeons, the AMA, and the ACGME. Believing that a physician’s responsibility is to comfort and heal in addition to attempting cure, Dr. Goldberg has emphasized the importance of art, music, and literature as a way to understand patients and their diseases. Married to Fran, they have two daughters and two grandchildren and continue to live bicoastal in Boston, MA and Seattle, WA.
For more information about Dr. Goldberg, including a full list of his publications, please visit his institution website.
Michael B. Bober, MD, PhD
Nemours/Alfred I. duPont Hospital for Children
Dr. Michael B. Bober is a pediatrician and geneticist who directs the Skeletal Dysplasia Program at the Alfred I. duPont Hospital for Children in Wilmington, DE.
He is a professor of pediatrics at Thomas Jefferson University’s Stanley Kimmel Medical College. Dr. Bober completed a combined M.D./Ph.D. program in biomedical engineering at Tulane University. His dissertation research focused on the genetic response of bone to mechanical and hormonal stimulation. He then went on to complete a pediatrics residency at Tulane University and a medical genetics residency and fellowship at Johns Hopkins University. He is board certified in pediatrics, and clinical and molecular genetics.
Dr. Bober’s fundamental and overarching career goal is to improve the lives of children with skeletal dysplasia. Clinically, his practice is exclusively focused on the diagnosis and management of children with skeletal dysplasia. Dr. Bober has serves as a medical advisor to many family support groups including: Little People of America, Potentials Foundation, Walking With Giants Foundation, Carol Ann Foundation, RhizoKids International and the Jansen Foundation Medical Advisory Board. He has been recognized for his clinical expertise by organizations such as: America’s Top Pediatricians, Best Doctors in America, Patient’s Choice Award and America’s Top Doctors.
In addition to his clinical responsibilities, Dr. Bober is very active in skeletal dysplasia research. His main areas of focus include: the delineation of unclassified skeletal dysplasias, the elucidation the natural history and molecular bases of skeletal dysplasias and the development of better management strategies and treatments for children with skeletal dysplasias. He has published more than 80 peer-reviewed manuscripts, textbook chapters and reviews on these topics. He has presented his work on 4 continents (Europe, North America, South American and Australia) and more than 20 of the US states. Dr. Bober has been or is involved with clinical trials for hypophosphatasia, osteogenesis imperfecta, Morquio syndrome, achondroplasia and Hunter syndrome. He and his collaborators have developed and maintained disease registries for forms of microcephalic osteodysplastic primordial dwarfism, rhizomelic chondrodysplasia punctata, achondroplasia and osteogenesis imperfecta.
For more information about Dr. Bober, including a full list of his publications, please visit his institution website.
Viviana Bompadre, PhD
Director of Research
Seattle Children’s Hospital
A native from Argentina, Dr. Viviana Bompadre came to the U.S. to pursue her doctorate degree in Sociology at the University of Notre Dame.
Viviana Bompadre, PhD is the director of research in the Orthopedics and Sports Medicine Department at Seattle Children’s Hospital. She manages all studies in the department and conducts research in pediatric orthopedic surgery.
Tae-Joon Cho, MD, PhD
Seoul National University Children’s Hospital
Prof. Tae-Joon Cho is a professor at Seoul National University College of Medicine, Seoul, Republic of Korea, and has worked as a pediatric orthopedic surgeon in Seoul National University Children’s Hospital during the last two decades.
He has conducted basic researches on fracture healing and distraction osteogenesis, and nowadays is focusing on molecular genetic and genomic studies on genetic skeletal disorders. His clinical work covers orthopedic intervention of genetic skeletal disorders including osteogenesis imperfecta as well as pediatric hip diseases and congenital limb anomalies. He is a world-renowned specialist in the diagnosis and management of rare bone diseases including osteogenesis imperfecta and many other skeletal dysplasias. As of 2018, he has authored more than 190 articles published in international peer-review journals, which include discovery of novel causative genes for skeletal disorders and novel surgical procedures and instrumentation for rare bone diseases.
He graduated from Seoul National University College of Medicine, was trained in Seoul National University Hospital, and had fellowship in or visited Boston University Hospital & Children’s Hospital, Boston, USA; Shriners’ Hospital, Montreal, Canada; Alfred I duPont Institute, Wilmington, USA; Wilhelmina Children’s Hospital, Utrecht, Netherlands; Orthopaedic Hospital Vienna-Speising, Austria; and Olga Hospital Stuttgart, Germany. He is serving as an editor and reviewer of many international orthopaedic and genetic academic journals, and is a member of Skeletal Dysplasia Management Consortium, and International Pediatric Orthopaedic Think Tank.
For more information about Dr. Cho, including a full list of his publications, please visit his institution website.
Julie Hoover-Fong, MD, PhD
The Johns Hopkins Hospital
Dr. Julie Hoover-Fong is an associate professor of pediatrics and clinical geneticist in the McKusick-Nathans Institute of Genetic Medicine. She also serves as director of the Greenberg Center for Skeletal Dysplasias.
Dr. Hoover-Fong holds a bachelor’s degree in human nutrition from The Ohio State University, where she also completed her medical degree. She received her PhD in the Graduate Training Program in Clinical Investigation at the Johns Hopkins University School of Medicine and Bloomberg School of Public Health. Dr. Hoover-Fong completed a pediatric internship and residency at Washington University in St. Louis and a fellowship in medical genetics at Johns Hopkins University in Baltimore. She joined the Johns Hopkins University faculty in 2002.
As a board certified clinical geneticist and pediatrician and Director of the Greenberg Center for Skeletal Dysplasias, Dr. Hoover-Fong oversees the clinical operations and research ventures for the patient population served by the Greenberg Center. Her clinical team works to establish and improve diagnostic and treatment guidelines for comprehensive care of patients with all types of bone conditions, congenital anomalies, and complex chromosomal abnormalities. She sees patients in multiple clinical settings including the skeletal dysplasia clinic, cleft and craniofacial clinics and a combined genetics-endocrine clinic.
Dr. Hoover-Fong also mentors and teaches medical students, residents and trainees in the Medical Genetics Postdoctoral Training Program at Johns Hopkins.
As an active clinical researcher, Dr. Hoover-Fong is the Principal Investigator of several multi-center clinical trials for patients with a variety of genetic conditions including achondroplasia and Down Syndrome. She is also a co-investigator on an NIH-sponsored grant to identify the genetic cause of Mendelian conditions via whole exome sequencing. For a multi-center CDC-sponsored study to discover potential environmental and genetic contributors to the onset of autism in children, she participates as a clinician co-investigator and thesis advisor.
From a service perspective, Dr. Hoover-Fong is an active member of the Medical Advisory Board of the Little People of America, the Johns Hopkins Clinical Research Center Protocol Review Committee, and the Institute of Genetic Medicine Residency Review Committee. She was recognized in Baltimore magazine’s Top Doctors 2013.
For more information about Dr. Hoover Fong, including her publication list, visit her institution website.
Melita Irving, MD
Guy’s and St Thomas’ NHS Foundation Trust
Melita Irving trained in paediatrics before joining the clinical genetics department at Guy’s and St Thomas’.
She undertook a fellowship in skeletal dysplasia at the Royal Children’s Hospital, Melbourne and has established multidisciplinary paediatric clinics in skeletal dysplasia, achondroplasia at the Evelina London Children’s Hospital.
She is lead clinician in the clinical genetics department, which provides a regional service across south London, Kent and east Sussex. She is committed to improving this service in line with new developments in the field, such as genomic medicine, and to translational research in rare diseases.
For more information about Dr. Irving, including her publication list, visit her institution website.
Shawn E. Kamps, MD
Seattle Children’s Hospital
Shawn Kamps, M.D. is a Pediatric Radiologist who has been on staff at Seattle Children’s Hospital since 2007, and is an Associate Professor of Radiology at the University of Washington Medical Center.
Shawn earned a Bachelor’s of Science degree in Mathematics at the University of Florida, completed her Doctorate of Medicine at Eastern Virginia Medical School, followed by a Diagnostic Radiology residency at the University of Washington and a Pediatric Radiology fellowship at UW/Seattle Children’s Hospital.
Her specialized interests are musculoskeletal imaging, and the imaging of skeletal dysplasias and syndromes. Shawn has provided imaging support for multidisciplinary conferences related to skeletal dysplasias since 2007. She has also created educational materials and published multiple articles related to the imaging of skeletal dysplasias.
For more information about Dr. Kamps, including her publication list, visit her institution website.
Cathleen L. Raggio, MD
Hospital for Special Surgery
Samantha Spencer, MD
Pediatric Orthopedic Surgeon
Boston Children’s Hospital
Dr. Samantha Spencer has been a pediatric orthopedic surgeon on staff at Boston Children’s Hospital since August, 2006.
She treats patients from birth to adult for a wide range of congenital and traumatic conditions, both surgically and non-surgically. Her particular interests include lower extremity disorders such as clubfeet and congenital limb differences, osteogenesis imperfecta and other bone dysplasias as well as vascular anomalies.
Dr. Spencer works with our multidisciplinary programs in Osteogenesis Imperfecta, Ehlers Danlos, and extensively with the Vascular Anomalies Center. Her clinical research focuses on congenital lower extremity, bone dysplasias and vascular anomalies. She also participates in the Lower Extremity Team research group meetings and projects.
For more information about Dr. Spencer, including her publication list, visit her institution website.