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HGF Pediatric Bone Symposium

The Keynote Speakers

2022 Pediatric Bone Symposium Sponsors

Meet the Keynote
2022 Poster Hall

Dr. Melita Irving

Keynote Presentation

Achondroplasia: how in-depth understanding of its natural history and pathophysiology are transforming management


Achondroplasia, the most common type of disproportionate short stature, is a multifaceted condition presenting significant medical complications and functional challenges. Secondary to inappropriate activation of the FGFR3 signalling pathway that regulates endochondral bone formation, achondroplasia requires a structured approach to clinical management, focussed upon the age-based consequences of this genetic condition. Recently international consensus was reached, paving the way for a standardised anticipatory surveillance programme.


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In conjunction, several clinical trials are in progress, exploring the use of FGFR3 pathway modifiers to treat achondroplasia and improve outcome for those with this lifelong condition. The presentation will outline the care pathway recommendations and discuss results of ongoing clinical trials, illustrating the future role of medical management, highlighting achondroplasia as an exemplar in treating rare genetic conditions.

About Dr. Irving

Dr. 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 since established multidisciplinary paediatric clinics in skeletal dysplasia and achondroplasia at the Evelina London Children's Hospital. She is chief investigator for a number of clinical trials in achondroplasia and a proponent of embedding clinical research synergistically within clinical service.


Dr. Erik Imel

Keynote Presentation

Navigating the treatment of XLH


X-linked hypophosphatemia (XLH) is the most common genetic cause of rickets. The rickets and biochemical abnormalities are mediated by increased production of Fibroblast Growth Factor 23 (FGF23). The skeletal consequences of XLH during childhood include skeletal deformities, especially of the lower limbs, and short stature, which can persist into adulthood, along with dental abscesses at any age. Children often require orthopedic surgical intervention, while in adults osteoarthritis and enthesopathy are common complications. Medical therapy for XLH aims to improve the skeletal health and physical function, by addressing the downstream effects of excess FGF23.  


In this presentation we will discuss conventional therapy with active vitamin D and phosphate salts, as well as monotherapy with anti-FGF23 antibody treatment (burosumab), addressing the outcomes of treatment in XLH, and the gaps in our knowledge.

Erik Imel, M.S., M.D. is a Professor of Medicine and Pediatrics at the Indiana University School of Medicine whose clinical and research focus is on bone and mineral disorders, especially rare bone disorders, including X-linked hypophosphatemia.  His unique background includes dual training and certification in both Adult and Pediatric Endocrinology at the Indiana University School of Medicine.  Dr. Imel is also an Affiliate Scientist of the Regenstrief Institute’s Center for Biomedical Informatics, and the Methodology Core Director for the Indiana Center for Musculoskeletal Health-Clinical Research Core, conducting biomedical informatics studies of musculoskeletal outcomes. He has conducted clinical and translational research in both rare and common musculoskeletal diseases, including clinical trials in X-linked hypophosphatemia (XLH), autosomal dominant hypophosphatemic rickets (ADHR), autosomal dominant osteopetrosis (ADO2), and osteoporosis. 

Dr. Eileen Shore

Keynote Presentation

Rare disease insight - progressive heterotopic ossification in children


Our body is composed of multiple organ systems that use specific types of cells for specialized functions. Bone and cartilage cells are normally restricted to the skeleton, however in heterotopic ossification, osteogenesis and chondrogenesis occur within soft connective tissues and lead to the extra-skeletal formation of bone. Heterotopic ossification in children is uncommon, however two rare genetic diseases form heterotopic bone during childhood and throughout life.



Our investigations of fibrodysplasia ossificans progressive (FOP) and progressive osseous heteroplasia (POH) are providing insights into the cellular and molecular mechanisms that control postnatal de novo formation of bone. We have not only identified key cell signaling pathways that regulate bone and cartilage cell differentiation, but also have recognized the importance of the tissue microenvironment in supporting and directing aberrant cell differentiation. As we continue to gain an understanding of the cell and molecular mechanisms that regulate heterotopic ossification, our goal is to identify new therapeutic strategies to regulate cell differentiation and tissue maintenance that can be used to treat FOP, POH, and other disorders of bone.

About Dr. Shore:

Professor, Departments of Orthopaedic Surgery and Genetics Cali/Weldon Professor of FOP ResearchCo-Director, Center for FOP and Related DisordersPerelman School of Medicine at the University of Pennsylvania

Eileen M. Shore is the Cali/Weldon Professor at the Perelman School of Medicine at the University of Pennsylvania in the Departments of Orthopaedic Surgery and Genetics, and is the co-Director of the Center for Research in FOP and Related Disorders. She received her Ph.D. in Cell and Molecular Biology from the University of Pennsylvania and postdoctoral training at the Fox Chase Cancer Center. Throughout her career, Dr. Shore has been committed to fostering scientific and career development as reflected by her professional activities including as a member of Graduate Groups in Cell and Molecular Biology and Bioengineering. She is a past- president of Advances in Mineral Metabolism and served a Basic Science Chair for the 2014 American Society of Bone and Mineral Research annual meeting, and active in journal editorial boards. She is also honored to have been named to the NORD Rare Disease Research Hall of Fame.

Over the past > 25 years, she has investigated cell differentiation and development in human genetic disease, with a focus on two rare disorders of de novo formation of extra-skeletal bone, fibrodysplasia ossificans progressiva (FOP) and progressive osseous heteroplasia (POH), and together with colleagues identified the genetic mutations that cause these conditions. She continues to explore the genetic, cellular, and molecular basis of dysregulated osteogenesis and the effects of the causative mutations on human health. She works to develop treatments for FOP, POH, and more common bone disorders, and to gain new understanding of the processes that regulate cell differentiation and regeneration.

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