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Geneticist, Principal Investigator
Hôpital Necker-Enfants Malades, Paris, France
Dr Geneviève Baujat is a Consultant Paediatrician at the Centre of Reference for Skeletal Dysplasia in Paris, France. She is also a member several scientific societies, including the European Society for Human Genetics, and the International Skeletal Dysplasia Society.
Dr Baujat gained her medical degree from Marseille University and was named Faculty prize winner for her medical thesis. She went on to attend a paediatrics fellowship at Hôpital Necker, complete a Master of Sciences at Descartes University in Paris, and received her Medical Geneticist Certification.
Her interest lies in the diagnosis and management of skeletal dysplasia from the antenatal period through to adulthood. She has participated in several research projects through the Centre of Reference, including the development of databases and registries for the epidemiology and natural history of skeletal conditions. She has also participated in clinical trials for emerging therapies, including those for achondroplasia, hypochondroplasia, fibrodysplasia ossificans progressive, Morquio syndrome (mucopolysaccharidosis type IV), and hypophosphatasia.
EU-ACH-00133 07/21
Clinical Geneticist
Virgen de la Arrixaca University Hospital, IMIB, University of Murcia, Spain
Dr Encarna Guillen-Navarro is a Clinical Geneticist at the University of Murcia Evelina London Children’s Hospital, Murcia, Spain. She is also Director of the Chair of Medical Genetics and Rare Diseases at the Catholic University of Murcia.
She gained her medical degree from the University of Murcia and became a specialist in Paediatrics at the MIR System, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia. She completed a Fellowship in Medical Genetics in the Human Genetics Programme, at New York University Medical Center, School of Medicine, New York. She was Professor of Genetics and Molecular Biology at New York University School of Medicine from 1995 to 1997, Resident Teaching Tutor from 2003 to 2007 and Associate Professor of Health Sciences at the University of Murcia from 2005 to 2013.
Her research interest is in understanding the phenotype and molecular mechanism involved in the onset of lipodystrophy and neurodegeneration in patients with BSCL2. She has published numerous book chapters, more than 100 research papers in high-impact journals and has presented more than 300 papers and / or communications at national and international conferences.
EU-ACH-00133 07/21
Paediatrician
Children’s Hospital, University of Cologne, Germany
Dr Heike Hoyer-Kuhn is a Consultant Paediatrician at the Children’s Hospital, University of Cologne, Germany. She is a member of the Paediatric Bone Dysplasia Outpatient Department. She gained a Fellowship in Paediatric Endocrinology, Diabetology and Osteology by training with Professor Eckhard Schoenau and Dr Oliver Semler.
Her interests lie in clinical care, focused on children and adolescents with Osteogenesis Imperfecta and skeletal dysplasia. Her other interests include evaluating new drug treatment approaches within clinical trials. Based on the large sample size of patients in the outpatient department, she is involved in basic research deciphering the molecular causes and pathophysiology of the disease by identifying clinical differences between classical collagen associated types and rare subtypes of skeletal diseases. Dr Hoyer-Kuhn has won numerous awards for her work in paediatrics, including Best Poster (European Society for Paediatric Nephrology, 2012), and the Jurgen-Bierich-Award of the Paediatric Endocrinology Association for the best publication in the field of clinical research in 2019.
EU-ACH-00133 07/21
Medical Geneticist
Hospital Pediátrico de Coimbra, Coimbra, Portugal
Dr Sérgio B. Sousa is a Medical Genetics specialist at the Hospital Pediátrico de Coimbra in Portugal. He obtained his medical degree from the University of Coimbra, where he subsequently did his Medical Genetics specialization. He completed an MSc in Molecular Medicine and Oncology at the University of Porto, and received a PhD from University College London in the United Kingdom. Dr Sousa has received several awards including the John M. Opitz Young Investigator Award in 2010 for his work in Nicolaides-Baraitser Syndrome.
He is a member of the Portuguese Society of Human Genetics, of which he has previously been a Board Member and is a present member of the Scientific Committee. He is also a present Board Member of the European Society of Human Genetics. Dr Sousa is a reviewer for a number of journals including the European Journal of Human Genetics, American Journal of Human Genetics, and European Journal of Medical Genetics.
He has over 15 years’ experience in Medical Genetics, with special interests in dysmorphology and skeletal dysplasia, and is the Coordinator of the Rare Bone Disorders multidisciplinary team at the Centro Hospitalar e Universitário de Coimbra.
EU-ACH-00133 07/21