Marzena Kucharczyk

Scientific degree: MA

Scientific position: assistant

Department: Medical Genetics Unit

OrcID No: 0000-0002-7716-6821


  • assistant in Medical Genetics Unit
  • graduated from the Department of Biology at the Adam Mickiewicz University in Poznań
  • specialised in the field of Biotechnology
  • worked on her MSc thesis in the Institute of Human Genetics at the Polish Academy of Sciences in Poznań
  • completed postgraduate studies in the field of medical analytics at the Medical University of Warsaw
  • in 2008 started working in the Department of Medical Genetics at the Children’s Memorial Health Institute
  • PhD student of the 1st Medical Department at the Medical University of Warsaw
  • PhD thesis title: „The role of subtelomeric chromosomal aberrations in the etiopathogenesis of dysmorphic syndromes of unexplained etiology: an attempt at determining the genotype-phenotype correlation”. Between 2012-2014, she was granted scholarships as part of the systemic project implemented by the Masovian Province Government, entitled „The scientific potential providing support for the Masovian economy – scholarships for PhD students” and „Science development – region development – scholarships and accompanying support for Masovian PhD students” (in recognition of the fact that the scientific research conducted as part of her PhD thesis was very beneficial to the society and economy, fostering the innovative development and competition of the Masovian Province)
  • in 2014: granted a DAAD (Deutscher Akademischer Austausch Dienst; German Academic Exchange Service) scholarship for research stay in the Institute of Medical Genetics and Human Genetics of the Charité Medical University in Berlin
  • author/co-author of 14 scientific publications
  • leader/main contractor/contractor of 11 scientific projects (MNiSW, NCN, IPCZD)
  • member of the European Society of Human Genetics, Polish Society of Human Genetics and National Chamber of Laboratory Diagnosticians

Qualifications and trainings:

  • specialization in laboratory medical genetics
  • other qualifications: many years of experience in the diagnosis of dysmorphic syndromes caused by chromosomal rearrangements in the patients with intellectual disability, psychomotor development delay, dysmorphic features and (or) congenital malformations; conducting research using modern diagnostic tools (MLPA, array CGH, NGS)

Research interests:

  • research interests primarily related to determining the contribution of genetic factors to the etiology of developmental disorder syndromes and congenital malformations