Instytut Pomnik
Centrum Zdrowia Dziecka
Warsaw
Poland
Prof. Malgorzata Krajewska-Walasek
Professor Malgorzata Krajewska-Walasek has been the head of the Department of Medical Genetics since 1991. She graduated from the Poznan Medical University and gained experience in paediatrics prior to commencing training in clinical genetics in 1978. Her areas of special interests are dysmorphic syndromes, with respect to delineation of the phenotype, natural history, and study of their molecular/cytogenetic pathogenesis. Aside from clinical and genetic aspects of these studies, the main objective of her work is dissemination of awareness of dysmorphic syndromes among primary care neonatologists, peadiatricians, and clinical geneticists, thus allowing the earlier diagnosis of these diseases in the Polish population. Since 1978 her own research interest is mainly associated with Smith-Lemli-Opitz syndrome—from long-term follow up of these patients and treatment, through pre- and postnatal biochemical and genetic analyses, to estimation of the incidence and prevalence in the Polish population.
Professor Krajewska-Walasekregularly organizes educational meetings for clinical geneticists and paediatricians including the Dysmorphological Meeting (3 per year), the International Training Course on “Clinical and Molecular Dysmorphology” (in 2004) to promote European cooperation in improvement of dysmorphological education of some rare genetic disorders, and also promotes young researchers (6 biologists and 2 physicians have obtained Ph.D. degrees under her supervision).
She is the chairman of the Commission on Medical Genetics of the Committee on Human Genetics and Molecular Pathology, a member of the Commission on Neurogenetics of the Committee on Neurological Sciences and of the Commission on Birth Defects of the Committee on Human Development of the Polish Academy of Science.
Prof. Krystyna Chrzanowska
Krystyna H. Chrzanowska, M.D., Ph.D.,is a head of the Genetic Counselling Unit andan associate Professor at the Department of Medical Genetics. She has qualified in paediatrics and clinical genetics. Her main clinical interests are clinical dysmorphology and, in particular, genomic instability disorders. Intensive studies undertaken in 1995 led to the identification and full diagnosis of a large and unique group of Polish Nijmegen breakage syndrome (NBS) patients. She established and manages the national Polish NBS Registry, which collects the clinical data of the largest group of patients worldwide with this disease (over 100 cases). Her own research interests are focused on NBS and the role of the NBS1 gene in carcinogenesis. She is involved in teaching undergraduates and postgraduates, and in promotion of young researchers.
Dr. Krystyna H. Chrzanowska is a member of the Commission on Neurogenetics of the Committee on Neurological Sciences and of the Commission on Birth Defects of the Committee on Human Development, both of the Polish Academy of Science.
European Commission Public Health Executive Agency (DG Sanco) Project: 2006122 - A European Network of Centres of Expertise for Dysmorphology
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