Elżbieta Agnieszka Gregorczyk

Mrs. Elżbieta Agnieszka Gregorczyk


Research Focus & Metrics

Academic Career Length

3Years (2024-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

View All Publications
18 June 2024 in Biomedicines
Verified
Journal Article
Open access
PDF file
EMEwa Elżbieta Matczyńska
Ewa Elżbieta Matczyńska
MBMarta Beć-Gajowniczek
Marta Beć-Gajowniczek
LSLarysa Sivitskaya
Larysa Sivitskaya
EGElżbieta Agnieszka Gregorczyk
Elżbieta Agnieszka Gregorczyk
PŁPrzemysław Łyszkiewicz
Przemysław Łyszkiewicz
ABAnna Maria Maria Boguszewska-Chachulska
Anna Maria Maria Boguszewska-Chachulska
Advances in gene therapy and genome editing give hope that new treatments will soon be available for inherited eye diseases that together affect a significant proportion of the adult population. New solutions are needed to make genetic diagnosis fast and affordable. This is the first study of such a large group of patients with inherited retinal dystrophies (IRD) and inherited optic neuropathies (ION) in the Polish population. It is based on four years of diagnostic analysis using a broad, targeted NGS approach. The results include the most common pathogenic variants, as well as 91 novel causative variants, including frameshifts in the cumbersome RPGR ORF15 region. The high frequency of the ABCA4 complex haplotype p.(Leu541Pro;Ala1038Val) was confirmed. Additionally, a deletion of exons 22–24 in USH2A, probably specific to the Polish population, was uncovered as the most frequent copy number variation. The diagnostic yield of the broad NGS panel reached 64.3% and is comparable to the results reported for genetic studies of IRD and ION performed for other populations with more extensive WES or WGS methods. A combined approach to identify genetic causes of all known diseases manifesting in the posterior eye segment appears to be the optimal choice given the currently available treatment options and advanced clinical trials.