Scientific Board

Professor Robert Smigiel is a specialist in pediatrics, clinical genetics, neonatology and metabolic pediatrics. He is a member of the national board of the Polish Society of Human Genetics, the Polish Society of Congenital Metabolism Defects and the Polish Society of Phenylketonuria, and a member of the regional board of the Polish Pediatric Society. Professor Robert Smigiel is associated with the Medical University of Wroclaw, Poland. For many years now, he has been also a consulting doctor in clinical genetics and metabolic pediatrics in neonatal and pediatric departments of several hospitals and clinics. He co-creates the Bartlomiej Skrzynski’s Diagnostic and Therapeutic Center for Rare Diseases in Wroclaw and participates in the development of the Pediatrics Center at the Medical University of Wroclaw. In his research work, Professor Robert Smigiel focuses on developmental disorders, dysmorphic syndromes and metabolic diseases of children. He is the author and co-author of over 500 original publications, case studies and review papers as well as conference summaries. He is the editor of the monograph "Congenital atresia of the esophagus: a practical guide.", "Early intervention and development support of children with genetic diseases.", “Down syndrome and medicine.” and "Genetically conditioned developmental disorders of children", and is also the author of 50 chapters in scientific and didactic textbooks in the field of pediatrics, neonatology, clinical genetics and didactic materials for caregivers of children with developmental disorders. Since many years, Professor Robert Śmigiel has been working socially with associations and foundations of parents and caregivers of children with intellectual disabilities, developmental disorders, and genetic and metabolic diseases. As a pediatrician and clinical geneticist, he received the Professor Religa Award "Exceptional Doctor", the recognition "Wroclaw without barriers" from President of Wroclaw, and was nominated for the Award " Angels of Medicine".

Krzysztof Szczaluba, DSc in medical science, is a specialist in clinical genetics. He is an assistant professor at the Medical Genetics Department of Medical University of Warsaw (MUW). He is also a consultant in the Children’s Hospital of the University Clinical Center MUW, where he runs a Genetic Clinic. Krzysztof Szczaluba's research interests focus mainly on neurodevelopmental issues, in particular the pathogenesis of intellectual disability, epilepsy, autism and CNS malformations. An important part of his work is also the use of modern techniques of genetic diagnostics in determining the causes of congenital abnormalities or genetic syndromes as well as the interpretation and evaluation of the clinical usefulness of the results of these tests. He is the author of over 60 publications on the IF list and many case reports and conference reports. He is the laureate of, among others, the Award of the Institute of Mother and Child Director for best publication, the Award of Extra-Pyramidal Disorders Department of the Polish Neurological Society and the Award of the Polish Society of Human Genetics. Krzysztof Szczaluba is also actively involved in multidisciplinary care for children with genetically determined syndromes and runs conventions for families and caregivers of children affected by genetic disorders. He believes that the greatest challenge facing modern geneticists is to translate the constantly expanding knowledge and skills into a significant improvement in the functioning of children with developmental disorders. In his opinion, effective care is the care of physicians and therapists of numerous specialties, coordinated by geneticist.

Sylwia Czarnecka, MD, is a graduate of Medical University of Warsaw (MUW). She pursued her interests in neurology already as a member of student neurological research clubs, then as a chairwoman of the Children's Neurology Club in MUW Clinical Hospital. She is a doctor during her residency in pediatric neurology, gaining her experience in the Neurology and Pediatrics Clinical Department and the Pediatric Neurological Clinic at the University Clinical Center of MUW. She is also a member of the Polish Society of Pediatric Neurologists. She is a co-author of multiple scientific publications in Polish and foreign journals and a co-author of chapters in coursebooks. She is constantly updating her knowledge and developing her skills by participating in courses and trainings around the world. Her special areas of interest are neurogenetics and neurometabolism. She is convinced that, despite the great progress that has been done in the area of diagnostics of children nervous system diseases, there is still much to be done to effectively improve lives of little patients. She believes that multidisciplinary cooperation and care is essential in this process. At the same time, parents are a great inspiration for her. Privately, she practices mountain climbing and she is a pilot in off-road and navigation rallies.