Małgorzata i Piotr Kośla

Małgorzata and Piotr Kośla are, first and foremost, devoted parents of 2.5-year-old twins, Zuzia and Lenka. Lenka suffers from an ultra-rare neurodevelopmental disorder, PACS2 syndrome, which leads to intellectual disability, epilepsy, and spectrum disorders, among others. There are only approximately 100 patients diagnosed with the disease worldwide.

In addition to their commitment to high-level managerial careers, Małgorzata and Piotr are the founders of the PACS2 Research Foundation, which, as of May 2022, is the first patient research organization operating on such a large scale and the first in the world dedicated to this rare disease.

Małgorzata leads an interdisciplinary project called “Mission LEK,” an international research and development effort that is a milestone in the fight against the PACS2 syndrome. Currently, the “Mission LEK” encompasses as many as eight sub-projects in the area of basic research – discovering the pathomechanism of the disease, and translational research – leading directly to finding a cure, including the RNA editing technology being developed at the Oxford University. “Mission LEK” offers a platform to connect top Polish clinical (WUM, UMB) and research institutions (Nencki Institute of PAN, IBB PAN) with foreign ones (Boston's Children Hospital, Northwestern University, Oxford University, Charles River Laboratories, Jackson Lab).

Research is still ongoing, but by 2024, thanks to efforts of Małgorzata and Piotr, it will be possible to administer the first dietary supplement to patients and conduct observational studies (in cooperation with the Medical University of Warsaw). Clinical trials on more complex molecules are planned to begin in 2025. “Mission LEK” operates on a non-profit model, thanks to the building of social capital: to date, PLN 2 million has been invested in research precisely thanks to the involvement of the community gathered around the project, media appearances, and marketing activities.

Not only investing in research, but also sharing their experience and knowledge, the Kośla family support other families affected by similar challenges (at least one family per month comes to them for support to start a research project for other incurable diseases that affect their children). They established their second foundation, Neurara, through which they can provide structural support, enabling families to plan research to develop therapies.

As community leaders, Małgorzata and Piotr are also involved on a broader level, representing the interests of patients with rare diseases in the national and European arenas. Their participation in organizations such as EURORDIS (the European alliance of rare disease patient organizations) and the European Reference Network for rare and complex epilepsies (ERN EpiCare) underscores the importance they place on collaboration and sharing experiences to improve patient care.

The Kośla family is working to blaze new trails, including access to public funds and establishing a certain driver for families in Poland. They have recently sent an open letter to the Ministry of Health, and then personally attended two meetings there, paving the way for this innovative initiative. In addition, they also involve Polish philanthropy community in supporting their activities.

Participation in scientific conferences and media appearances contribute to public awareness of rare neurological diseases, which can lead to better diagnosis and treatment. Some recent appearances include a presentation at the Rare Disease Day at the Medical University of Warsaw and the Institute of Biochemistry and Biophysics of the Polish Academy of Sciences; further, a presentation at the ProteoCOST international scientific conference is also planned.

With limited business interest for many rare diseases, the efforts of the Kośla family are invaluable. Their work not only makes a difference in the lives of affected families, but also inspires others to act and take on challenges.