Alison Boyce, MD is an Associate Research Physician in the National Institute of Dental and Craniofacial Research, National Institutes of Health in Bethesda MD, USA. Dr Boyce’s work focuses on bone and mineral metabolism, using rare and pediatric skeletal disorders as models to gain greater understanding of human physiology. She leads investigations in fibrous dysplasia/ McCune- Albright syndrome, a rare disease affecting the bone and endocrine systems, and has characterized many aspects of this disorder and its treatment. Additional studies focus on disorders of fibroblast growth factor-23 and connective tissue. Dr Boyce is a faculty member in the NIH Pediatric Endocrinology fellowship training program. She holds an adjunct position at Children’s National Hospital in Washington, D.C., where she attends in the multidisciplinary Bone Health Program. She is a member of the Fibrous Dysplasia/McCune-Albright Syndrome International Consortium and serves as Chair of the Medical Advisory Committee to the Fibrous Dysplasia Foundation.
Dr Moira Cheung set up and is the clinical lead for the rare bone disease service in London, UK, she has recently taken on the new role of Consultant in Paediatric Endocrinology and rare bone disease Great Ormond Street Hospital, London, UK. She trained in clinical paediatrics and tertiary endocrinology in London and undertook her basic science PhD in Imperial College looking at the effect of thyroid hormone and oestrogen on the skeleton of animal models. She completed her clinical fellowship at the Shriners Hospital, McGill University, Montreal and returned to the UK to establish a rare bone service at the Evelina London Children’s Hospital. This service encompasses: clinical research; access to pharmaceutical trials and new medicines, within a multidisciplinary, holistic family centred approach to the care of children with bone disorders. She is a committee member of the Skeletal Dysplasia Group, set up the European Achondroplasia Network and is a medical advisor to a few patient groups.
Dr. Antonella Forlino is Associate Professor of Biochemistry at the Department of Molecular Medicine, Unit of Biochemistry, University of Pavia. She has a PhD in Biochemistry and the Speciality in Genetics. She spent 5 years of post-doc training in NIH, Bethesda, USA. Her research activity has been focused on the molecular, biochemical, and functional study of genetic diseases of the connective tissue in particular Osteogenesis Imperfecta (OI), using in vitro and in vivo models (mice and Zebrafish). She is combining basic science with translational approaches. She is particularly interested on the intracellular effects of retained aberrant collagen type I in modulating the bone phenotype in both dominant and recessive OI.
Nadja Fratzl-Zelman obtained her PhD at the University of Vienna in organic chemistry, plant physiology and human biology. After graduation, she worked at the Institute for Organic Chemistry at the University of Vienna before becoming staff member at the Ludwig Boltzmann Institute for Osteology in 1987. She is one of the coordinators of the newly founded Vienna Bone and Growth Center, which recently became a member of the European Reference Network on rare bone diseases (ERN BOND). Research interest include in-vitro bone matrix mineralization and osteoblast differentiation, as well as characterization of bone tissue in various disorders, based on human biopsies and on mouse models. Recent work concentrates on metabolic disorders associated with disturbed mineral metabolism and elevated bone fragility, for example chronic kidney disease in children, as well as rare genetic diseases, such as pycnodysostosis, osteogenesis imperfecta, X-linked hypophosphatemia and melorheostosis. Nadja Fratzl-Zelman is giving courses on the function of bone cells and rare bone disorders and serves as Senior PhD supervisor in the PhD program on Musculoskeletal and Dental Research at the Medical University of Vienna. She is also active as Board Member of the Austrian Society of Bone and Mineral Research.
Dieter Haffner is a professor of pediatrics and head of the Department of Pediatric Kidney, Liver and Metabolic Diseases at Hannover Medical School. His main interests are the genetic and mechanistic exploration of rare kidney diseases such as X-linked hypophosphatemic rickets and hereditary cystic kidney disease, and mineral and bone disorders in children with chronic kidney disease (CKD-MBD). He is coordinating the ESPN working group on CKD-MBD, the IPNA Best Practices and Standards Committee, and the Guidelines and Pathways Task Force of the European Reference Network for Rare Kidney Diseases (ERKNet). He has led, or been heavily involved in, several randomized controlled clinical trials, patient registries, and clinical practice recommendations. He has also published 185 original scientific articles, reviews, editorials and book chapters.
Wolfgang Högler is an endocrinologist and Professor of Paediatrics at the Johannes Kepler University (JKU) Linz, Austria. His paediatric and endocrine training at the Medical University Innsbruck, Austria and at The Children’s Hospital at Westmead, Sydney, Australia was followed by academic clinical appointments in Innsbruck and Birmingham. His research group focuses on clinical and translational research, specifically mechanism of disease, novel diagnostic tools and treatments of rare bone and growth disorders. Prof. Högler chaired the 7 th International Conference on Children’s Bone Health (ICCBH) and the Global Consensus for the Prevention and Management of Rickets. He initiated the first ICCBH Bone School, organises postgraduate endocrine seminars for the Ipokrates Foundation and enjoys mentoring international fellows and young researchers.
Dr Ciara McDonnell is a Consultant in Paediatric Endocrinology and Diabetes with Childrens' Health Ireland [CHI @ Tallaght, Temple St., and Crumlin] in Dublin. She completed her undergraduate training at Trinity College Dublin and her postgraduate Fellowship in Endocrinology at the Royal Children's Hospital in Melbourne, Australia. Dr McDonnell is the clinical lead for the Centre for Rare Paediatric Bone Disorders and the Paediatric Bone Densitometry services in CHI at Temple St., Dublin which were established in 2019. Dr McDonnell is the Associate Dean of Examinations in the Faculty of Paediatrics in the Royal College of Physicians of Ireland, the current convener of the Bone & Growth Plate working group of the European Society of Paediatric Endocrinology and the local organiser for the ICCBH conference to be held in Dublin in July 2022.
Frank Rauch, MD, is a Professor of Pediatrics and clinician-scientist at the Shriners Hospital for Children and at McGill University in Montreal, Canada. He obtained his MD degree from the Technical University of Munich and trained as a pediatrician at the Children’s Hospital of Cologne University, Germany. At Shriners Hospital since 2001, his clinical activities and research program concentrate on improving bone health in children, with a special focus on genetic conditions leading to fractures and on the role of the muscle system in bone diseases. In his recent work, Dr Rauch has identified new genetic causes of brittle bone disorders and has assessed the long-term effects of bisphosphonate treatment in children with osteogenesis imperfecta. He is also collaborating with Statistics Canada in a national population-based study that assesses muscle and bone health in Canadians. Dr Rauch has authored or co-authored more than 260 original publications. His publications have been cited 21,000 times and his current H-index (Google Scholar) is 78.
Dr. Leanne Ward is a Professor of Pediatrics at the University of Ottawa where she has held a Research Chair in Pediatric Bone Disorders since 2010. She is the Scientific Director of the Ottawa Pediatric Bone Health Research Group, the Founder and Chair of the Canadian Consortium for Children’s Bone Health, the Medical Director of the Pediatric Genetic and Metabolic Bone Disease Clinic at the Children’s Hospital of Eastern Ontario (CHEO), and a pediatric endocrinologist in the Division of Endocrinology and Metabolism at CHEO. Dr. Ward’s research program is dedicated to the study of bone development and the diagnosis and treatment of bone disorders in children, including osteogenesis imperfecta, rickets, achondroplasia and osteoporosis due to chronic illnesses (such as Duchenne muscular dystrophy). She has participated in numerous international clinical trials of novel therapeutics in rare skeletal disorders, and holds particular expertise in central imaging methodology for rare skeletal disease studies. Dr. Ward has received numerous grants and awards for her work in pediatric bone disorders including Canadian Child Health Clinician Scientist Career Development and Enhancement Awards and sustained funding from the Canadian Institutes for Health Research as PI or co-PI since 2003. In 2019, Dr. Ward was named a Fellow of the American Society of Bone and Mineral Research, an award in recognition of significant contributions to bone and mineral science.