Jutte van der Werff ten Bosch

Jutte van der Werff ten Bosch, Professor of Pediatric Hematology, Oncology and Immunology, Paola Children's Hospital, Antwerpen, Belgium. 

Professor Dr Jutte van der Werff ten Bosch is an pediatric immunologist and hemato/oncologist. She completed her studies in medicine at the Vrije Universiteit Brussel and went on to do her PhD in the field of immunology. Afterwards, she completed her training as a pediatrician and a pediatric hemato/oncologist at the same university, after which she moved to the Leids Universitair Medisch Centrum to further specialize in immunology and infectiology. Since 2008 she is a member of the department of Pediatrics in the hospital of the Vrije Universiteit Brussel. 

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Athimalaipet Ramanan

A. V. Ramanan, FRCPCH, FRCP. Professor, Consultant Paediatric Rheumatologist Bristol Royal Hospital for Children & Royal National Hospital for Rheumatic Diseases, Bath, United Kingdom. 

Professor A. V. Ramanan, FRCPCH, FRCP, is a Consultant Paediatric Rheumatologist at Bristol Royal Hospital for Children and Royal National Hospital for Rheumatic Diseases, Bath, UK. Prof.Ramanan has published more than 90 papers in peer reviewed journals and authored chapters in textbooks. He is Associate Editor for the Archives of Diseases in Childhood and in the Editorial Board of Rheumatology. He is the Associate Director of UK's only Paediatric Experimental Arthritis Treatment Centre.



Jerzy Starzyk

Jerzy Starzyk, Head of Pediatric and Adolescent Endocrinology Department, Institute of Pediatrics, Faculty of Medicine, Medical College, Jagiellonian University, Poland

Jerzy Starzyk is a pediatrician, endocrinologist, as well as a pediatric endocrinologist and diabetologist. He obtained a PhD from Jagiellonian University in 1995. In 1996 he completed a 4-months pediatric endocrinology training in the Department of Pediatric Endocrinology at the University Children's Hospital in Pittsburgh, USA. Since 2001 he has been running Pediatric and Adolescent Endocrinology Department at the University Children’s Hospital in Cracow. He has both scientific-didactic and clinical interest in pediatric endocrinology and diabetology, particularly in the field of sexual development and growth disorders.

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Vasilica Plaiasu

Plaiasu Vasilica, MD, PhD. Regional Center of Medical Genetics Bucharest , INSMC Alessandrescu-Rusescu, Pediatrics Department, Bucharest, Romania.

Vasilica Plaiasu MD, PhD trained as a clinical geneticist at Bucharest Regional Medical Genetic Center integrated in  the National  Institute for Mother and Child Care  (INSMC Alessandrescu-Rusescu), Pediatrics Department, which receives the cases mainly from the south and south-east parts of the country. Dr. Plaiasu is an active member of numerous national and international societies, including Romanian Society of Medical Genetics, European Society of Human Genetics, Society for the Study of Inborn Errors of Metabolism.


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Francesc Palau

Francesc Palau MD, PhD, Director Department of Genetic and Molecular Medicine Pediatric Institute of Rare Diseases (IPER) - Director Sant Joan de Déu Research Institute - Consultant Clinical Institute of Medicine & Dermatology (ICMiD), Hospital Clínic, Barcelona - CSIC Research Professor and Visiting Professor Pediatrics, University of Barcelona. 

Dr. Francesc Palau directs the Department of Genetic and Molecular Medicine and the Pediatric Institute of Rare Diseases (IPER) of the Sant Joan de Déu Children’s Hospital in Barcelona, ​​where he is also director of the Sant Joan de Déu Research Institute. He is also consultant in rare diseases at the Clinical Institute of Medicine and Dermatology, Hospital Clínic of Barcelona. 

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Joseph Muenzer

Joseph Muenzer, MD, PhD. Professor Pediatric Genetics and Metabolism Genetics (Research), Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina, United States.

Joseph Muenzer, MD, PhD, is a Professor in the Department of Pediatrics at the University of North Carolina at Chapel Hill (UNC-CH), where he has practiced since 1993.  He received a doctor of medicine degree (1976) and PhD in biochemistry (1979) from Case Western Reserve University in Cleveland, Ohio.  He completed a residency in pediatrics at the University of Wisconsin Hospitals, Madison, and a genetic/endocrine fellowship at the National Institute of Child Health and Human Development, NIH, in Bethesda, Maryland.  


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Pramod Mistry

Pramod Kumar Mistry, MBBS, PhD, FRCP. Professor of Medicine (Digestive Diseases) and of Pediatrics (Gastroenterology); Professor of Cellular & Molecular Physiology; Director of Yale Lysosomal Disease Center and Gaucher Disease Treatment Center, United States.

I was born in Kenya and grew up in England. At College I majored in Biochemistry and for my PhD project, I focused on effects of dietary cholesterol on LDL receptor activity in healthy individuals. I was deeply inspired by the research from Brown and Goldstein lab, that set me on path to a career as a physician/scientist doing translational research. My clinical, research and educational activities center around inherited metabolic liver diseases and in particular on Gaucher disease. 

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Uma Ramaswami

Uma Ramaswami, MBBS, MSc, FRCPCH, MD. Lysosomal Storage Disorders Unit, Institute of Immunity and Transplantation, Royal Free Hospital, University College London, United Kingdom.

Uma Ramaswami is a Consultant Paediatrician in Inherited Metabolic Disorders based at the Lysosomal Disorders Unit at the Royal Free Hospital, London. She trained in Inherited Metabolic Disorders in Temple Street Children’s Hospital, Dublin and Great Ormond Street Children’s Hospital, London; she completed an MSc, Clinical Paediatrics (Distinction) and MD thesis on Skeletal Dysplasia from University College London.  She has been a Principal Investigator for pivotal clinical trials of enzyme replacement in children with Lysosomal Storage Disorders (LSDs) and related disorders; and has a special interest in clinical research relating to the understanding of the natural history and disease progression in LSDs, with a focus on Anderson-Fabry Disease.

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Maria Gizewska

Maria Gizewska. ProfessorVice Head of the Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Poland. 

Professor PUM Maria Giżewska graduated from the Pomeranian Medical University in Szczecin, Poland in 1985. She started at the Department of Biochemistry and  in 1987 she joined the Department of Children’s Diseases. In 1995, based on the study on the effectiveness of different types of treatment in children leukemia she obtained her PhD. She has a specialization in general pediatrics and pediatric metabolism. Doctor Giżewska is also a vice-chairman of Polish Society of Phenylketonuria and a vice-chairman of Scientific Advisory Committee of European Society of Phenylketonuria and Allied Disorders Treated as Phenylketonuria (ESPKU). In the last years she was involved in the development of European PKU Guidelines.

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Ciana Giovanni

Ciana Giovanni. SOC Regional Coordinating Centre for Rare Diseases, Azienda Sanitaria Universitaria, Integrata di Udine, Hospital "S.Maria della Misericordia, Udine, Italy 

Giovanni Ciana is an Italian Medical Doctor specialized in Pediatrics. He has been working at the Regional Coordinator Centre for Rare Diseases, Director Dr. Bruno Bembi, Hospital “S. Maria della Misericordia”, Udine, Italy, since November 2008. From 1992 to 2008 he has been Assistant Pediatrician at the Department of Neonatology of IRCCS Children Hospital “Burlo Garofolo”, Trieste, Italy. Since 1994 he has turned his interests to metabolic diseases; in November of the same year, he took part in a one-month internship at the Centre of Neurometabolic Diseases of the National Institute of Health, Bethesda, USA.

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