Conference: Presenters
Note: Speakers are subject to change
Dr. Genevieve Baujat
Genevieve Baujat (MD, MSc), pediatrician by training, is clinical geneticist, consultant in the Centre of Reference for Skeletal Dysplasia (“CRMR MOC”), at the Imagine institute of Necker-Enfants malades Hospital, Paris, France. The CRMR MOC is part of the French Filière de santé OSCAR and member of the ERN BOND (European Rare Disease Network for bone disorders).
She has an active interest for skeletal dysplasia diagnosis (from antenatal period to adulthood) and pediatric management. She participates to several research projects through the French Centre of Reference, including the development of databases and registries for better known epidemiology and natural history of skeletal conditions, and clinical trials for emergent therapies, including conditions associated with heterotopic ossification and calcification.
Dr. Carlos Ferreira
Dr. Ferreira is a staff clinician at the National Institutes of Health (NIH)/National Human Genome Research Institute (NHGRI) in Bethesda, Maryland, where he serves as the Principal Investigator of studies of various genetic conditions. Dr. Ferreira first became interested in rare disorders of calcification in 2013. He is currently the Principal Investigator of the “Study of People with Generalized Arterial Calcification of Infancy (GACI) or Autosomal Hypophosphatemic Rickets Type 2 (ARHR2)” with the primary goal of the study being to determine the natural history of patients with GACI or ARHR2.
Professor Zulf Mughal
Professor Zulf Mughal graduated in medicine from the University of Liverpool, UK, in 1978. He received postgraduate training in Paediatrics at hospitals in Manchester and Liverpool in the UK, and in Cincinnati, USA. He was appointed a Consultant Pediatrician in 1988. He has extensive experience in the management of childhood bone and mineral disorders. He has over 30 years of experience in managing paediatric cases of GACI and ARHR2. Professor Mughal has published more than 180 peer-reviewed scientific papers, invited reviews and book chapters.
Dr. Lothar Seefried
Lothar Seefried is an orthopaedic and trauma surgeon, heading the Clinical Trial Unit and the Department of Osteology at the Orthopaedic Institute, University of Wuerzburg, Germany, where he’s also affiliated as a lecturer.
His work area comprises metabolic musculoskeletal disorders, integrating specific medical treatment, orthopaedic surgery and exercise interventions in settings of compromised bone quality, specifically in rare metabolic diseases, complex osteoporosis and sarcopenia.
Along with that, he has a scientific focus on rare and multisystemic musculoskeletal diseases, including Hypophosphatasia, phosphate wasting disorders like XLH and TIO, Osteogenesis imperfecta, Fibrous Dysplasia / McCune Albright Syndrome and numerous other rare entities as well as geriatric orthopaedics and pain management.
His department is conducting clinical trials Phase I-VI as well as exploratory and observational clinical studies comprehensively covering the field of muscle, bone and joint health.
The team at BioMarin
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