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Dr. Jorge is a principal investigator at the Genetic Endocrinology Unit. He is an expert in growth disorders and has published more than 180 papers in international scientific journals, with more than 3,600 citations (h-index of 34). He characterized several new genetic conditions associated with growth disorders, such as alterations involving the Natriuretic peptide system (NPPC and NPR2); Noonan syndrome associated with SOS2 or LZTR1 mutations, homozygous defects in BRCA1, and genetic syndrome associated with SCUBE3 and BCL11B mutations.
He is a member of the Endocrine Society, the European Society for Paediatric Endocrinology (ESPE), the Latin American Society of Pediatric Endocrinology (SLEP), and the Brazilian Endocrine Society (SBEM). Dr. Jorge is responsible for the molecular genetic investigation of endocrine-genetic disorders at the largest hospital in South America (Hospital das Clínicas). He is in charge of an outpatient clinic for children with growth disorders, with more than 600 children each year. The focus of our outpatient clinics is children with syndromic short and tall stature, patients with rare defects of the GH/IGFs axis, and cases of isolated short stature (ISS and SGA). His research is centered on discovering and understanding the genetic mechanisms involved in growth and development disorders.
Dr Reiko Horikawa
Director of the Endocrinology and Metabolism Division of the Japanese National Centre for Child Health and Development (NCCHD), Tokyo, Japan.
Dr Horikawa, a paediatric endocrinologist, is the Director of the Endocrinology and Metabolism Division of the Japanese National Centre for Child Health and Development (NCCHD) and has been with the NCCHD since 2002. She is the author of over 300 original, peer-reviewed endocrinology articles (174 English/152 Japanese) and has contributed to 43 book publications. Dr Horikawa earned her M.D. from Tohoku University and completed her residency in paediatric endocrinology at the National Children’s Hospital, Tokyo, Japan. After her post-doctoral fellowship at the University of Virginia Health Sciences, she returned back as Faculty at the National Children’s Hospital, Department of Endocrinology and Metabolism. She has served in executive board member positions in several important national and international professional society groups such as Japan Endocrine Society, Asia Pacific Endocrine Society and Growth Hormone Research Society (GRS). She continues to be active in her editorial work and research interests (growth, sex development, and maturation, neuroendocrinology (hypothalamus-pituitary axis), adrenal disorders). In 2016, Dr Horikawa was awarded the Japanese Society of Pediatric Endocrinology Kenji Fujieda award
Prof. Anita Hokken-Koelega
Department at the Erasmus University Medical Center, Rotterdam and the Netherlands, Rotterdam, Netherlands.
Anita C.S. Hokken-Koelega is Professor and Head of Pediatric Endocrinology Department at the Erasmus University Medical Center, Rotterdam and the Netherlands. She supervises endocrine research and large multicenter trials in the Netherlands, and is Director of the Dutch Growth Research Foundation. She was a Chair of the Strategic and Finance Committee of the European Society for Paediatric Endocrinology (ESPE). Her research focuses on endocrine and metabolic effects of acute and chronic illness in children, growth disorders and GH treatment in children with short stature due to chronic illness, born SGA, and in patients with Prader–Willi syndrome. She is also involved in the development of advanced growth-prediction models and growth charts (Growth Analyser). Professor Hokken-Koelega has published approx. 300 scientific papers in peer-reviewed journals. She has received the ASPASIA Award (The Netherlands Research Institute), the Endocrinology Award (Dutch Endocrine Society) and the European Society Pediatric Endocrinology (ESPE) Research Award 2011.