We would like to extend a heartfelt thank you to the medical experts and OI community members who have volunteered to speak at the OIF’s Virtual Conference!
Michael Bober, MD, PhD
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 a board certified in Pediatrics, Clinical Genetics and Molecular Genetics. Clinically, his practice is exclusively focused on the diagnosis and management of children with skeletal dysplasia.
Jeanne Franzone, MD
Jeanne M. Franzone, MD is a pediatric orthopaedic surgeon at the Nemours Alfred. I. duPont Hospital for Children in Wilmington, DE. She is the Co-Director of the Multidisciplinary Osteogenesis Imperfecta Program. At Nemours, the multidisciplinary OI team provides comprehensive OI care from the prenatal period through the age of 35 years. Dr. Franzone completed orthopaedic surgery residency at Columbia University Medical Center. She then completed a pediatric orthopaedic surgery fellowship at the Nemours Alfred I. duPont Hospital for children and an additional fellowship in limb deformity, lengthening and reconstruction at the International Center for Limb Lengthening in Baltimore, MD. Dr. Franzone is a member of the Limb Lengthening and Reconstruction Society and serves on the Faculty for the OIF OI TeleECHO series. Dr. Franzone is the incoming Co-Chair of the International Conference on Children’s Bone Health (ICCBH) Young Investigator Networking group. Dr. Franzone is on the Scientific Advisory Board for the OIF’s Preparing Adults with Osteogenesis Imperfecta to Engage in Research on Access and Quality of Care for Their Rare Disease PCORI project.
Mahim Jain, MD, PhD
Dr. Mahim Jain is a member of the Osteogenesis Imperfecta Clinic at Kennedy Krieger Institute and an assistant professor in the Department of Pediatrics at The Johns Hopkins University School of Medicine. Dr. Jain has a strong clinical and research interest in the understanding and treatment of disorders of low bone density. Dr. Jain received his bachelor’s degree from The University of Notre Dame, graduating summa cum laude in biochemistry. He completed his medical school at Indiana University School of Medicine and completed a Ph.D. from The University of Oxford, focused on using statistical and computational methods to identify genetic variants that contribute to both rare and complex human traits. During that time he was a Howard-Hughes Medical Institute-National Institutes of Health Research Scholar and a National Institutes of Health-Oxford Biomedical Scholar. He completed his clinical residency at Baylor College of Medicine in the combined pediatrics and genetics residency program. During training he was involved in clinical research efforts focused on studying clinically-relevant outcomes in a large multi-center cohort of patients with osteogenesis imperfecta. He also gained skills in the evaluation of next-generation sequencing data and is currently the Co-lead of the Baylor College of Medicine Clinical Site of the Undiagnosed Diseases Network Sequence Analysis Group. Dr. Jain enjoys performing statistical analyses in both epidemiologic and genetic datasets. While studying a large multi-center osteogenesis imperfecta cohort, he authored a publication showing that at-birth fracture rates were not dependent on delivery method. He is also currently characterizing growth parameters in the OI dataset, with the hope of providing clinical guidance for expected growth parameters in OI. Dr. Jain also has identified and contributed to efforts that have identified genetic variants, whether common or rare, that contribute to human disorders, including OI, other skeletal disorders and also attention-deficit/hyperactivity disorder.
Chaz Kellem currently serves as the Director of PittServes at the University of Pittsburgh within the Division of Student Affairs. Chaz began his career at the Pittsburgh Pirates in which he spent 10 seasons, most of which he spent time in the Community & Public Affairs department as the Manager of Diversity Initiatives. In this capacity, he was responsible for managing the organization’s interaction with various multicultural constituencies. Chaz earned his Master of Science Degree in Organizational Leadership from Robert Morris University and his Bachelor of Science in Health and Physical Education from Edinboro University. He is active in the community, as he serves on several non-profit boards and is involved with the Pittsburgh Steelwheelers, the competitive wheelchair basketball team in the region.
Deborah Krakow, MD
Dr. Deborah Krakow is Professor and Chair of the Department of Obstetrics and Gynecology at UCLA. Dr. Krakow is also Professor of Orthopaedic Surgery and Professor of Human Genetics at UCLA. Dr. Krakow received her bachelor’s degree from Arizona State University in Tempe and her medical degree from Chicago Medical School. After an internship and residency in obstetrics and gynecology at Cedars-Sinai Medical Center, she completed fellowships in maternal-fetal medicine at Harbor-UCLA Medical Center and in research and clinical genetics at the UCLA Intercampus Medical Genetics Training Program. Dr. Krakow is Co-Director of the International Skeletal Dysplasia Registry.
Brendan Lee, MD, PhD
Dr. Lee is the Robert and Janice McNair Endowed Chair, Professor, and Chairman of the Department of Molecular and Human Genetics, Director of the Center for Skeletal Medicine and Biology at Baylor College of Medicine, and co-Director of the Texas Medical Center Bone Disease Program of Texas. 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 and studies their implications for cancers of the skeleton. In the area of metabolic disease, he has studied nitric oxide dysregulation and developed new treatments for maple syrup urine disease and urea cycle disorders. Dr. Lee has been recognized by election to the National Academy of Medicine, Fellow of the American Association for the Advancement of Science (AAAS), the Association of American Physicians (AAP), the American Society for Clinical Investigation (ASCI), and the Society of Pediatric Research (SPR). He has also been awarded the American Society of Human Genetics Curt Stern Award for Outstanding Scientific Achievement, the Texas Academy of Medicine, Engineering, Science and Technology (TAMEST) Peter and Edith O’Donnell Award in Medicine, the Society for Pediatric Research E. Meade Johnson Award for Pediatrics Research, the Michael E. DeBakey Excellence in Research Award, the American Philosophical Society’s (APS) Judson Darland Prize for Patient-Oriented Clinical Investigation, and Best Doctors in America. Dr. Lee was previously an Investigator of the Howard Hughes Medical Institute prior to his appointment as Chairman of the Department of Molecular and Human Genetics in 2014. The Department is the leading genetics program integrating basic, translational, clinical, and diagnostic laboratory activities. It is composed of over 150 primary faculty members encompassing research, clinical, laboratory diagnostic, and genetic counseling missions. It ranks #1 among genetics departments in total funding and number of grants from the National Institutes of Health.
Sandesh Nagamani, MD
Dr. Sandesh CS Nagamani is an Associate Professor in the Departments of Molecular and Human Genetics and Internal and the Vice Chair for Clinical Research in Molecular and Human Genetics at Baylor College of Medicine. He is a clinical geneticist and provides clinical care for adult patients with a wide variety of heritable conditions including OI, heritable disorders of bone, and other common forms of metabolic bone diseases. His research program is focused on translational research that involves understanding the natural history of rare disorders, identifying appropriate clinical and laboratory biomarkers of disease severity, and evaluating new and potential therapies for various genetic disorders. He is a Co-Principal Investigator for the NIH Rare Diseases Clinical Research Network’s Urea Cycle Disorders Consortium and a Lead investigator for the Brittle Bone Disorders Consortium.
Joseph Napoli, MD, DDS
Joseph A. Napoli, MD, DDS is a member of the Division of Plastic Surgery at Children’s Hospital of Philadelphia and faculty member at Perelman School of Medicine, University of Pennsylvania. Dr. Napoli received his dental and medical degrees from Columbia University School of Dental and Oral Surgery and the College of Physicians and Surgeons, respectively. He completed his residency in Oral and Maxillofacial Surgery at Columbia-Presbyterian Medical Center and in Plastic Surgery at Dartmouth-Hitchcock Medical Center followed by a fellowship in Craniofacial and Pediatric Plastic Surgery at Royal Children’s Hospital in Melbourne, Australia. He is the author of book chapters on alveolar cleft bone graft and maxillary advancement in children and young adults with cleft lip and palate and other craniofacial anomalies, has published in peer-reviewed journals, and presented at scientific meetings on distraction osteogenesis and revision palatoplasty. Dr. Napoli is a certified by the American Board of Oral and Maxillofacial Surgery and the American Board of Plastic Surgery and is a Fellow of the American Association of Oral and Maxillofacial Surgeons.
Cathleen Raggio, MD
Cathleen L. Raggio, M.D. specializes in general pediatric orthopedics, scoliosis and in the treatment of osteogenesis imperfecta and skeletal dysplasia and is the Co-Director of the Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias at Hospital for Special Surgery. Dr. Raggio completed her residency in orthopedic surgery at Hospital for Special Surgery and fellowship in pediatric orthopedic surgery at Alfred I. duPont Hospital for Children. Known worldwide throughout the medical community, Dr. Raggio performs basic science and clinical research on the etiology of scoliosis, osteogenesis imperfecta, osteoporosis, and skeletal dysplasias. Dr. Raggio has helped define the different types of OI, specifically type IX and the different drug treatment options using the mice models of OI. She has served as Co-Chair of the International Research Conference in Annapolis and has served on the subsequent organizing committees. Dr. Raggio is currently on the OI Foundation’s Medical Advisory Council and has spoken at the biennial National Conferences.
Jean-Marc Retrouvey, DMD, MSc, FRCD
Jean-Marc Retrouvey, D.M.D, M.Sc. FRCD (C), is the Leo Rogers Endowed Chair of the Orthodontic Department at the University of Missouri Kansas City. He is a RCDC (Royal College of Dentists of Canada) examiner, an NDEB advisor and member of the AAO, the American College of Dentists, The Angle East Society of Orthodontist, a Fellow in the Académie Dentaire du Quebec and the past president of the Canadian Association of Orthodontists. As a teacher, he has received the McGill Dental Society, the Wood, Katz and Silverstone awards for excellence in teaching. Dr. Retrouvey also received the Bravo award for his implication at McGill in teaching and research at McGill University. Dr. Retrouvey is also involved with HVO (Health Volunteer Overseas) in the development of blended teaching program for emerging countries and is president of the International Foundation for Dental Education, a nonprofit organization offering orthodontic course in developing countries. He is the principal investigator for the NIH supported research project dental aspect of the Longitudinal Study of Osteogenesis Imperfecta and is the Principal Investigator for the “Dental Malocclusion and Craniofacial Development in OI”. These research projects are conducted by the Brittle Bone Disease Consortium from the RDCRN network of the NIH and have been renewed for a second phase.
Kevin Ricker, DDS
Kevin Ricker DDS, MS is a pediatric dentist at Chatham Pediatric Dentistry in Chapel Hill, NC. He also has OI and has lived with its dental complications firsthand.
Sandy Sandhaus, MD, PhD
Robert “Sandy” Sandhaus, MD, PhD has degrees in molecular biology, biochemistry, and medicine. He is board certified in Internal Medicine and Pulmonary Disease. He has been a medical faculty member at UCSF and the University of Colorado and is currently a professor of medicine at National Jewish Health in Denver. In 1981, he started the Alpha-1 Program at National Jewish Health and remains its director. In addition to his ongoing academic career, Sandy Sandhaus led clinical development programs at Cortech, NeXstar Pharmaceuticals, and Gilead Sciences during the 1990s. Since 2000, he has been the Medical Director of AlphaNet and the Clinical Director of the Alpha-1 Foundation, while continuing to follow patients with genetic lung disease at National Jewish. Sandy Sandhaus is also the Medical Director of AlphaNet Canada and has served on the Boards of Directors of the Alpha-1 Association, the Alpha-1 Foundation, the Osteogenesis Imperfecta Foundation, and the Association for the Accreditation of Human Research Protection Programs and is currently a board member of AlphaNet, the Alpha-1 Project, and Global Implementation Solutions.
Reid Sutton, MD
Reid Sutton, M.D., is board certified in both clinical genetics and clinical biochemical genetics and provides medical care for individuals with inborn errors of metabolism in the Texas Children’s Hospital Metabolic Clinic in Houston, Texas. Dr. Sutton is Assistant Professor of Molecular and Human Genetics at Baylor College of Medicine in Houston, Texas and also serves as the Medical Director of the Biochemical Genetics Diagnostic Laboratory. He is the Director of both the Medical Genetics Residency Program and the American Board of Medical Genetics Diagnostic Laboratory training programs in clinical biochemical genetics, clinical cytogenetics and clinical molecular genetics. Dr. Sutton was raised in Kentucky and attended Transylvania University and the University of Kentucky College of Medicine. He did his pediatric residency at Washington University/St. Louis Children’s Hospital in St. Louis and received training in Medical Genetics and Clinical Biochemical Genetics at Baylor College of Medicine. Dr. Sutton is a member of the Society of Inherited Metabolic Diseases, American College of Medical Genetics, American Society of Human Genetics and the International Skeletal Dysplasia Society.
Laura Tosi, MD
Dr. Laura L. Tosi is the Director of the Bone Health Program at Children’s National Medical Center (CNMC) and Associate Professor of Orthopaedics and Pediatrics at George Washington University in Washington, D.C. Her clinical practice focuses on the orthopedic care of children and young adults with physical disabilities and/or issues related to bone health. Dr Tosi is a graduate of Harvard Medical School and she received her orthopaedic training at the Columbia Presbyterian Hospital in New York and the Hospital for Sick Children in Toronto. She currently serves on the Board of Directors of the Osteogenesis Imperfecta Foundation and the US Bone & Joint Initiative. She chairs the Medical Advisory Board of the “Own the Bone” Steering Committee of the American Orthopaedic Association and serves on the Medical Advisory Committee of the Osteogenesis Imperfecta Foundation and American Bone Health.
Maegen Wallace, MD
Dr. Wallace is an Associate Professor of Orthopaedic Surgery at the University of Nebraska Medical Center and practices pediatric orthopaedic surgery at Children’s Hospital and Medical Center in Omaha, Nebraska. A native of Nebraska, she graduated from Missouri State University with a BS in Sports Medicine and Athletic Training and the University of Nebraska Medical Center with her medical degree. She completed her orthopaedic surgery residency at Saint Louis University and her pediatric orthopaedic surgery fellowship at AI duPont Hospital for Children in Wilmington, Delaware. She is the director of the Osteogenesis Imperfecta clinic at Children’s hospital in Omaha and serves as a board member for the Jansen’s Foundation. She has committed a significant portion of her clinical practice to OI and the majority of her academic practice to OI.