3P Medicine Laboratory, Medical University of Gdańsk

13/07/2026

📣 We are delighted to share that the results of a project led by Koczkowska have been accepted for publication in Molecular Medicine (IF: 8.3). The article, “From Clinical Suspicion to Molecular Detection of Low-Level Mosaicism in NF2-Related Schwannomatosis via Ultra-Sensitive Duplex Sequencing,” was co-first-authored by Monika Horbacz and Justyna Prokopiuk and supervised by Magdalena Koczkowska and Arkadiusz Piotrowski.

💡The study evaluated whether ultra-sensitive duplex sequencing of blood-derived DNA could improve the detection of mosaic variants in patients with suspected schwannomatosis. Low-level pathogenic NF2 variants were identified in 11% of previously unresolved cases, including variants present at extremely low frequencies. These findings show that duplex sequencing can support more accurate diagnosis, reduce reliance on tumour tissue, and improve patient management and genetic counselling.

⚕️The article presents the results of the project supported by the National Centre for Research and Development (NCBR) as part of the European Joint Programme on Rare Diseases (EJPRD) and LIDER XII research project funded by NCBR awarded to Magdalena Koczkowska. It is also the result of long-lasting collaboration with Elisabeth Castellanos, Hilde Brems, Ignacio Blanco, Eric Legius, Seppe Van der Auweraer, Aleksandra Gintowt-Chakour, Beata S. Lipska-Ziętkiewicz and Irene Tiemann-Boege.

👏 Congratulation on this great achievement! This study represents another important step towards improving the molecular diagnosis of NF2-related schwannomatosis!

➡ You can read the article here: https://link.springer.com/article/10.1186/s10020-026-01561-x

24/06/2026

🌞 With the first days of summer, we’ve already experienced some sudden weather twists – from rainy +10°C mornings to sunny 30°C days.
To boost our energy and motivation during this unpredictable start to the season, we brought a little summer treat into the office.

🍧 Yes, ice cream is sweet and highly processed food, but it can also be a source of calcium and vitamins such as A, D and B12. Most importantly, sharing a bowl of ice cream with friends and colleagues is really about something more: the social connection it creates.

🤝🏻 Sometimes the best energy boost is simply good company and a bowl of ice cream!

16/06/2026

📣 IRA3P at a major scientific event in Gothenburg – the European Human Genetics Conference is almost behind us!

💡From 11 to 16th of July our four scientists had the great opportunity to participate in workshops, lectures and sessions during ESHG - European Society of Human Genetics 2026.

➡ Monika Horbacz and Justyna Prokopiuk participated in Clinical NGS Data Interpretation Course than focused on the clinical interpretation of variants emphasising real data and cases. Katarzyna Duzowska was accepted for the workshop Unleashing the Power of Large-Scale Genomic Public Databases, where she explored key resources, GWAS and PGS Catalogs, and learnt how to integrate these data with functional genomics tools.

➡ Monika Horbacz’s results using Oxford Nanopore sequencing were selected for a lightning talk in the Cancer Genetics session. She also presented the poster “Methylation profiling of breast tumors and adjacent uninvolved mammary tissue to identify field-effect biomarkers using Oxford Nanopore sequencing and adaptive sampling”.

➡Katarzyna presented the preliminary results from her PhD project in the poster “Structural and epigenetic alterations target lipid metabolism in tumor-adjacent breast tissue”, while Justyna presented “Detection of low-level mosaic disease-causing variants in tumor-predisposition syndromes using duplex sequencing” (co-authored by her supervisor Magdalena Koczkowska).

💡ESHG 2026 offered great time full of inspiring science, valuable discussions, and new knowledge! We are coming back from Gothenburg with fresh ideas, new skills, and even more motivation for our ongoing research.

11/06/2026

📣 We are happy to share a good news that the Medical University of Gdańsk (GUMed) and IRA3P will participate in another international COST Action project, this time dedicated to Neurofibromatosis Type 1 (NF1) and Schwannomatosis (SWN).

💡 The initiative, INTERACT-NF (CA25150), aims to bring together researchers, clinicians, patient organizations, and other stakeholders across Europe to strengthen collaboration and advance research on these rare genetic disorders.
The proposal was developed by Dr. Eduard Serra (IGTP, Spain; Main Proposer) in collaboration with Dr. Laura Fertitta (INSERM, France) and our colleague, Magdalena Koczkowska.

📣 The network is now open to new participants from Poland. We encourage researchers and clinicians interested in NF1 and Schwannomatosis to join the initiative and contribute to building a strong European research community.

👏 Congratulations to all colleagues involved in making this initiative a reality. We are honoured to be part of this community!

➡ More information: https://www.cost.eu/actions/CA25150/

26/05/2026

⚕️The International Conference on Tuberous Sclerosis Complex and other Neurocutaneous Conditions, held in Warsaw on May 21-23, 2026, brought together leading clinical, scientific, and diagnostic experts focused on tuberous sclerosis complex (TSC), NF1, schwannomatosis, and other neurocutaneous disorders.

💡 The meeting created an excellent platform for interdisciplinary discussions on the latest advances in molecular diagnostics, clinical management, mosaicism, and emerging therapeutic approaches. The conference featured outstanding speakers and internationally recognized experts in the field of TSC and rare genetic disorders.

📣 We are proud that dr hab. Magdalena Koczkowska, a member of our team, was among the invited speakers during Session V: NF1, presenting: “Mosaicism - diagnostic challenge in NF-1 and schwannomatosis”. The lecture highlighted current diagnostic challenges related to mosaic forms of NF1 and schwannomatosis, emphasizing the importance of highly sensitive NGS-based approaches in routine clinical diagnostics.

13/05/2026

📣 We are happy to share that the results of the IRA3P project focused on breast cancer have recently appeared online in BMC Cancer (IF = 3.7) in the paper entitled “Beyond tumors: uninvolved breast tissue of breast cancer patients with adverse prognoses is enriched for pathogenic PIK3CA and TP53 post-zygotic variants”. The results were generated by Maria Andreou as part of her PhD project under the supervision of Arkadiusz Piotrowski, Magdalena Koczkowska and Jan Dumanski.

💡 This paper represents the next step forward in the IRA3P investigation of the tumorigenic potential of histologically normal breast tissue from breast cancer patients, where we aim to identify genetic alterations that precede visible tumour development and progression. The study found that pathogenic post-zygotic variants in cancer-associated genes were significantly more common in histologically normal breast tissue from patients with poor cancer prognosis, particularly truncating and TP53 variants, suggesting a link between mosaic genetic alterations and adverse outcomes. Many of these variants were absent from the corresponding tumours, indicating that independent mutant cell clones can arise and persist in normal mammary tissue outside the primary cancer.

➡ You can read the article here: https://tinyurl.com/bdfv97ej

👏 Congratulations to all authors on this important step forward!

08/05/2026

🎉Great news to share about the interdisciplinary project of Jakub Mieczkowski that was accepted for funding by Agencja Badań Medycznych in the Transmed call.

🙌Congratulation on this achievement!

📣 Ponad 11 mln zł dla GUMed na projekt dotyczący wczesnego wykrywania nawrotów raka płuca. Wyniki konkursu TRANSMED Agencja Badań Medycznych

Zespół badaczy z Gdańskiego Uniwersytetu Medycznego i Uniwersyteckie Centrum Kliniczne, szpitala GUMed kierowany przez dr. hab. Jakuba Mieczkowskiego, prof. GUMed z Międzynarodowej Agendy Badawczej GUMed, prof. Rafała Dziadziuszko, kierownika Katedry i Kliniki Onkologii i Radioterapii GUMed, rektora GUMed prof. Michał Markuszewski, kierownika Zakładu Biofarmacji i Farmakokinetyki oraz prof. Witolda Rzymana, kierownika Katedry i Kliniki Chirurgii Klatki Piersiowej GUMed będzie pracował nad nową metodą monitorowania pacjentów z niedrobnokomórkowym rakiem płuca.

Celem projektu jest opracowanie prostszego i mniej obciążającego sposobu sprawdzania, czy leczenie działa oraz czy choroba nie zaczyna wracać. Zamiast opierać się wyłącznie na badaniach obrazowych lub inwazyjnych procedurach, naukowcy chcą analizować informacje obecne w rutynowo pobieranych próbkach krwi i moczu oraz w standardowych obrazach klinicznych.

Projekt, którego wyłącznym wykonawcą jest GUMed otrzymał dofinansowanie w wysokości 11 023 177 zł.

🔗 Więcej informacji https://gumed.edu.pl/pl/aktualnosci/nauka/ponad-11-mln-zl-dla-gumed-na-projekt-dotyczacy-wczesnego-wykrywania-nawrotow-raka-pluca

04/05/2026

🎉 We’re happy to share that Łukasz Szydłowski from IRA3P has been named a laureate of the Osobowość Roku 2025 Gala in the category Innovations and New Technologies!

🚀 Łukasz has been working with us since 2025 in the group of Jakub Mieczkowski and serves as Chief Technology Officer at AstroFarms. His research focuses on fermentation in extraterrestrial conditions—part of broader efforts related to the terraforming of the Moon and Mars. He is also the creator of AstroBucha, a kombucha-based beverage developed as part of this innovative work.

💡The gala, organized by Dziennik Bałtycki, is an annual event recognizing outstanding social, scientific, and professional achievements in the region. The awards are the result of a multi-stage public vote, in which residents select the most distinguished individuals in each category. The ceremony brought together representatives of science, local government, culture, and business, highlighting those whose everyday work has a real impact on the development of Pomerania.

🛰️ Mission accomplished! Congratulations on this stellar achievement.

➡ You can read more here: https://gumed.edu.pl/pl/aktualnosci/uczelnia/przedstawiciele-gumed-wsrod-laureatow-gali-osobowosc-roku-2025

📣 Przedstawiciele wśród laureatów gali Osobowość Roku 2025

Za nami uroczysta gala organizowana przez Dziennik Bałtycki, podczas której nagrodzono osoby szczególnie zaangażowane w rozwój regionu – w nauce, działalności społecznej i innowacjach. Wśród wyróżnionych znaleźli się także przedstawiciele Gdańskiego Uniwersytetu Medycznego.

🥇 Dr Łukasz Szydłowski z Międzynarodowej Agendy Badawczej GUMed, dyrektor technologiczny AstroFarms, zdobył I miejsce w kategorii Innowacje i nowe technologie.

👏 Dr hab. Ewa Bandurska, prof. uczelni, prodziekan ds. jakości kształcenia i praktyk studenckich na Wydziale Nauk o Zdrowiu z Instytutem Medycyny Morskiej i Tropikalnej, zajęła II miejsce w kategorii Nauka.

Serdecznie gratulujemy i życzymy kolejnych sukcesów!

fot. Przemysław Świderski/Dziennik Bałtycki/Polska Press

30/04/2026

„I will either find a way or make one…” Hannibal Barca

⚕️With this quotation in mind cited at the opening, we had a pleasure of participating today in the fantastic event organized by Uniwersyteckie Centrum Kliniczne w Gdańsku, Gdański Uniwersytet Medyczny and ERDERA - Undiagnosed Day 2026 | Where diagnosis becomes hope: The power of collaboration and technology in rare diseases.

💡Magdalena Koczkowska, Filipowicz, Monika Horbacz and Justyna Prokopiuk had a unique opportunity to listen to specialist clinicians, clinical geneticists, and invited experts discussing practical approaches to phenotyping and diagnosing undiagnosed conditions.

🔬 The talks highlighted a striking reality: despite huge progress in medicine and diagnostics, an estimated 350 million people worldwide still remain without a diagnosis. Life without one means not only uncertainty, but often limited access to appropriate treatment, health insurance, and essential social support.

🧬We hope that our work on comprehensive molecular diagnostics of patients with Neurofibromatosis type 1 (NF1) and related conditions, led by Magdalena Koczkowska, PhD under Narodowe Centrum Badań i Rozwoju and EJP RD funding, will bring us one step closer to understanding this still largely unexplored area.

28/04/2026

📣Yesterday IRA3P employees and students – Monika Horbacz, Urszula Ławrynowicz, Łukasz Szydłowski and Julia Zakaszewska had a great opportunity to participate in Nanopore Day 2026 at Pomorski Uniwersytet Medyczny w Szczecinie.

💡Nanopore Day 2026 in Szczecin was organized to promote this cutting-edge technology, and enable experts to exchange practical experience in their application across medicine, diagnostics, and forensics. IRA3P has introduced Oxford Nanopore Sequencing to our lab over 5 years ago and has been successfully using the method for methylation profiling in breast tumors and uninvolved glandular tissue as well as for ctDNA profiling in liquid biopsies from glioma patients.

🔬During this meeting Ula Ławrynowicz had an opportunity to present the first results of the First Team project (Fundacja na rzecz Nauki Polskiej) led by Jakub Mieczkowski in the presentation “Fragmentomic and Epigenetic ctDNA Profiling in Liquid Biopsy Using Nanopore Sequencing”.

🙌Great science, inspiring discussions, and new connections—thank you for having us! 🙌