Bone Abstracts

Biographical DetailsS Schmidt graduated with a medical degree from the University of Rostock (Germany) in 1996 and received her pediatric training in Germany, Norway and Sweden. Already during this time she became interested in pediatric inflammatory bowel disease and bone mineral density. After residency, she worked as a pediatric gastroenterologist in the region of Gothenburg (Sweden) a...

Biographical DetailsS Bechtold-Dalla Pozza is a Consultant Pediatric Endocrinologist working at the Department of Endocrinology and Diabetology of the Dr von Haunersches Kinderspital, Ludwig-Maximilians University, Munich, Germany. She completed her pediatric training at the department of Pediatrics at the University Children’s Hospital, Munich, following a clinical and research fell...

Biographical DetailsM van den Heuvel-Eibrink is Associate Professor of Pediatric Oncology at the Erasmus MC/Sophia Children’s Hospital, Rotterdam, The Netherlands. She began her medical career with an MD from the University of Utrecht and following a number of years of clinical work in the pediatric oncology field completed her PhD in Rotterdam in 2001. Since 2009 Dr M van den Heuvel...

Biographical DetailsDr Brendan Lee is the Robert and Janice McNair Endowed Chair in Molecular and Human Genetics, Professor and Interim Chairman of the Department of Molecular and Human Genetics at Baylor College of Medicine. Dr B Lee co-directs the joint MD Anderson Cancer Center and Baylor College of Medicine Rolanette and Berdon Lawrence Bone Disease Program of Texas, and the Baylor Co...

Biographical DetailsDr Nick Shaw is a Consultant Paediatric Endocrinologist at Birmingham Children’s Hospital and Honorary Senior Clinical Lecturer at the University of Birmingham. He developed an interest in paediatric calcium and bone metabolism whilst a Lecturer at the University of Leeds in 1985 and subsequently as a Lecturer at the University of Liverpool. He completed his endoc...

Biographical DetailsDr Frank Rauch obtained his MD degree from the Technical University of Munich, Germany, and trained as a pediatrician at the Children’s Hospital of Cologne University, Germany. Since 2001 Dr F Rauch has been a clinician-scientist at the Shriners Hospital for Children and is currently a Professor of Pediatrics at McGill University, Montreal, Canada. His clinical an...

Biographical DetailsDr Marie Gdalevitch completed both her medical and orthopedic surgery degrees at McGill University. Following her residency, Dr M Gdalevitch pursued her first fellowship in limb lengthening and deformity correction at the International Center for Limb Lengthening in Baltimore, Maryland. Dr M Gdalevitch then embarked on her second fellowship in pediatric orthopedics and...

Biographical DetailsSusan Schiavi has spent her career as a research scientist within the biotech/pharmaceutical industry. She received her PhD from the University of Massachusetts Medical School and completed a postdoctoral fellowship at Harvard Medical School. As a Senior Scientific Director at Genzyme and Sanofi, her primary role has been the development of scientific strategy for the ...

I will describe non-cancerous skeletal diseases that occur as a consequence of somatic mutation. I will introduce the work of Drs Mary Lyon, Dorothea Bennett, and Rudolf Happle that provided insights into the mechanism responsible for several genetic, non-heritable diseases. I will then describe the technology and analytic strategies that several laboratories, including my own, employed to identify mutations in patients with Maffucci, Proteus, CLOVES, and Klippel-Trenaunay syn...

Biographical DetailsDr Madhusmita Misra is a full Professor of Pediatrics at Harvard Medical School and a Pediatric Endocrinologist at Massachusetts General Hospital in Boston, Massachusetts. She directs the fellowship training program in Pediatric Endocrinology at Massachusetts General Hospital, and has a Masters in Public Health from the Harvard School of Public Health. Dr M Misra’...