Poznań, June 29, 2026 – The cooperation between the Institute of Bioorganic Chemistry of the Polish Academy of Sciences (IBCH PAS) and the Platynowa Drużyna Foundation has been formalized. The signing of the partnership agreement marks the first step towards undertaking joint activities to research rare genetic diseases and disseminate knowledge about them. The partnership is implemented as part of the “G4PL – Genomics for Poland” project, led by IBCH PAS.

The Platynowa Drużyna Foundation brings together and supports families of patients suffering from rare diseases, with a particular focus on Batten disease. A key element of the Foundation’s mission is building public awareness regarding rare diseases. The importance of this education is highlighted annually by International Batten Disease Awareness Day, observed on June 9th. The Foundation’s activities not only provide support for families but also familiarize society with the challenges faced by patients and their loved ones.

The cooperation between the two institutions is based on combining social initiatives with research and development. The “G4PL – Genomics for Poland” project, carried out by a consortium of 12 research units from across the country, is an initiative of crucial importance for the future of Polish medicine. The primary goal of the project is to build a nationwide research infrastructure that will facilitate access to advanced sequencing technologies in Poland – not only for scientific entities but also for commercial ones, including diagnostic laboratories. The project also plans to collect whole-genome sequencing data from 6,000 to 7,000 individuals, including patients suffering from rare diseases.

For patients with Batten disease and other rare genetic disorders, obtaining a diagnosis is often a multi-year, tedious process referred to as the “diagnostic Odyssey”. Thanks to the infrastructure built under the G4PL project, along with access to whole-genome data and the tools to analyse it, it will be possible to identify the genetic basis of diseases much faster. This is a prerequisite for implementing appropriate care and therapy.

“I first encountered the Platynowa Drużyna Foundation a few years ago during the implementation of the first IBCH PAS genomic project, the so-called Genomic Map of Poland. At that time, our goal was to collect a reference set of genomes of Polish residents, including representatives of regional and ethnic minorities. Our first meeting took place in Kashubia, while collecting samples from the Kashubian minority, from which the President of the Foundation, Małgorzata Skweres-Kuchta, originates. It was then that the suggestion arose to include rare diseases in future research. Today, that future is becoming the present.” – Luiza Handschuh, PhD, Prof. of IBCH PAS, Director of the Institute of Bioorganic Chemistry, PAS

“The code matters – this is our guiding motto in conversations with families. Genetic testing does not explain the cause of every disease, but for many children suspected of having a rare disease, it can end the diagnostic odyssey. This is vital because without a diagnosis, we are moving in the dark, and we often even do harm with misplaced interventions. And when a therapeutic option exists for a given disease, a rapid diagnosis can be a matter of life and death. I know this from my own experience and the stories of many families I know. Every initiative that can help reach a diagnosis is valuable.” – Małgorzata Skweres-Kuchta, PhD, President of the Platynowa Drużyna Foundation

The G4PL – Genomics for Poland project is co-financed by the European Union under the European Funds for a Modern Economy program.