Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms.
Bukowy-Bieryllo Z, Rabiasz A, Dabrowski M, Pogorzelski A, Wojda A, Dmenska H, Grzela K, Sroczynski J, Witt M, Zietkiewicz E;J Medical Genet, 2019, 56 (11): 769-777.
Ziętkiewicz E, Bukowy-Bieryllo Z, Rabiasz A, Daca-Roszak P, Wojda A, Voelkel K, Rutkiewicz E, Pogorzelski A, Rasteiro M, Witt M;Amer J Respiratory Cell Mol Biol, 2019 October, 61 (4): 440-449, Epub 2019 March 27, DOI: https://doi.org/10.1165/rcmb.2018-0260OC.
Nomination for the Polish Intelligent Development Award 2020
Nomination for the Polish Intelligent Development Award 2020 in the category: Sciencist of the future for the project: : “In search for new genes involved in primary ciliary dyskinesia pathogenesis: functional screening of candidate genes using RNA interference"
was awarded for the best oral presentation entitled "Identification of genes potentially involved in the pathogenesis of primary ciliary dyskinesia" during the X Open Lectures from the series of Youth Meetings with Science in Poznan
mgr Alicja Rabiasz
prof. dr hab. n. med. Michał Witt
prof. dr hab. n. med. Ewa Ziętkiewicz
Poster titled "Schmidtea mediterranea as a model organism to study novel genes potentially involved in primary ciliary dyskinesia pathogenesis" presented by Alicja Rabiasz, Michał Witt, Ewa Ziętkiewicz, was awarded a "Gold Helix" by the Polish Human Genetics Association during IXth Convention of Polish Human Genetics Association in Bydgoszcz