Aleksandra Jezela-Stanek.

Clinical geneticist

Aleksandra Jezela-Stanek, MD, PhD is a specialist in clinical genetics. Her professional work concertedly focuses on the diagnosis and genetic counselling of rare congenital diseases, especially malformation syndromes and inborn defects of metabolism. Her main area of both clinical and scientific activity is the application of modern molecular diagnostic methods for the identification and characterisation of pathomechanisms associated with developmental disorders and pregnancy failure. She has also been involved in prenatal diagnosis and preimplantation testing for many years.

He is the author of numerous publications, mostly related to the identification and phenotypic characterisation of rare, congenital dysmorphic syndromes presenting as intellectual disability, delayed physical development, facial dysmorphia (specific appearance) and congenital malformations. She is actively involved in international projects dedicated to dysmorphic syndromes, such as the GestaltMatcher Database and FaceMatch. She is also active on the editorial boards of scientific medical journals such as the Journal of Mother and Child, Archives of Medical Science or Froniers (Pediatric Neurology).

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