PACS2 Research Foundation

PACS2 Research Foundation Unlocking hope for the ultra-rare neurological disorder caused by mutation in PACS2 gene. We coordinate global efforts to develop a drug for PACS2 syndrome.

There are currently 10 projects run, including drug repurposing and DNA/RNA therapies development

08/09/2025

Can’t believe it’s already been a year!

The beauty of our missionCURE is connecting people from all over the world and across specializations. On our invitation, exactly one year ago, they came to meet in Warsaw.

At that time, we also opened the doors for other patient organizations, researchers, doctors, and families – so they could come, listen to what can be done, and network.

NEXT YEAR WE’LL DO IT AGAIN 😊

We are slowly preparing for the next edition in autumn 2026. Over the past year, several new research teams (from 7 different countries!) have joined the missionCURE. 💪

This time, we also want to involve other patient organizations even more. 👨‍👩‍👧‍👦 To show the growing, brave community of parents in Poland who are engaged in research at different stages. It’s still a “work in progress,” but we’re preparing some really great things, promise ❤️‍🔥

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Thank you: Ethan Perlstein (Perlara PBC), Carlo Rinaldi (University of Oxford), Krzysztof Szczałuba (WUM), Daria Julkowska (ERDERA) for your kind words after the event and the keepsake that will stay with us forever.

And to Dominik Cysewski and Kacper Lukasiewicz, PhD who worked out the event plan with us and were always there to exchange ideas.

We’re opening a new chapter in PACS2 syndrome research!Nearly €1.2 million for 4 years of work dedicated to understandin...
28/05/2025

We’re opening a new chapter in PACS2 syndrome research!

Nearly €1.2 million for 4 years of work dedicated to understanding the biology and pathomechanisms of PACS2 syndrome. This remarkable funding was awarded by the Polish National Science Center to a consortium led by the Nencki Institute of Experimental Biology PAS, headed by Professor Mariusz Więckowski and his amazing team, in collaboration with teams from the Medical University of Bialystok (led by Dominik Cysewski, PhD) and the Medical University of Warsaw (Prof. Krzysztof Szczałuba and Prof. Krystyna Szymańska).

This is the first grant in Europe ever awarded for PACS2 syndrome research and biggest of all (so far! 😉) - granted here, in our home country 🇵🇱, to a consortium built thanks to our efforts, Foundation's initial investment coming from the support of thousands of donors ❤️‍🔥 and above all thanks to the people who, just over two years ago, believed it was worth collaborating with those “crazy parents” of little Lenka. 🥹

A research and clinical team closely working alongside a patient advocacy organization isn’t something you see every day - though it truly should be. And we couldn’t be prouder.

Huge congratulations to the consortium and fingers crossed for the results for the benefit of PACS2 patients and future clinical trials!

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Pictures from 2022 / 2023, our initial meetings with the teams - looking back now, it’s incredibly moving! And I have just noticed we need a picture with the team from Medical University of Warsaw 😉

Ethics or Money?During the last week conference LifeScience4EU organized by Klaster LifeScience Krakow under Polish pres...
19/05/2025

Ethics or Money?

During the last week conference LifeScience4EU organized by Klaster LifeScience Krakow under Polish presidency of the Council of the European Union, Marco Greco from European Patients'​ Forum emphasized in his speech that patient engagement in research co-creation should be beyond question, especially considering the rich cultural values we uphold in Europe.

While we fully agree with this, our representative Malgorzata Kosla also pointed out that patient involvement is not only an ethical imperative but also makes economic sense. No one asks more questions about the practical application of innovation, and no one is more motivated to ensure treatments actually reach patients - as fast as possible, while ensuring all safety measures are in place. And as was highlighted throughout the sessions - in the EU, we don’t struggle with innovation as much as we struggle with translating ideas from bench to bedside, and with bringing clinical trials to EU.

In the conference the challenges and opportunities facing Life Sciences in EU were discussed from every possible angle. It was truly inspiring to listen to other speakers and to be part of these discussions, and even more so that our voice - coming from a patient start-up-like NGO - was heard and valued.

Thank you for having us Klaster LifeScience Krakow and looking foreward to the post-conference report!



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Organizers & Partners of the event: Klaster LifeScience Krakow, Ministerstwo Nauki i Szkolnictwa Wyższego, Uniwersytet Jagielloński w Krakowie, Urząd Miasta Krakowa, European Union

We co-founded the European Association for Complex and Rare Epilepsies (CREA) 🔥 together with 8 other patient organizati...
12/05/2025

We co-founded the European Association for Complex and Rare Epilepsies (CREA) 🔥 together with 8 other patient organizations from across Europe 🙌 - the amazing parents i.a. on this picture ❤️‍🔥

> Isabella Brambilla, José Ángel Aibar, Bibic Irena, Emma Del Rey, Sandra Silva- Arrieta, Marita Gunn Sandnes, Andrea Lodi and Carol-Anne Partridge <

There are hundreds of genes that cause rare neurological disorders, where epilepsy — often drug-resistant — is just one of the symptoms, alongside cognitive and speech impairments, behavioral challenges and many other.
PACS2, Dravet, GRIN, CDKL5, and many, many more… patients receive different genetic diagnoses, but they and their families face similar unmet needs across Europe.

That’s why we’ve come together — to align our common priorities and speak with one stronger, united voice. We’ve only just started, and CREA already brings together 40 associated organizations. It’s a responsibility, but also an incredible journey ahead to change the world for affected kids and their families. 🤞✨

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Last weekend we had a chance to meet on the 1st European Meeting for all patients associations dedicated to Rare and Complex Epilepsies, organized by ERN EpiCARE - Rare and Complex Epilepsies 🤍

15/04/2025

Last Friday, at the Rare Disease Conference under the Polish presidency of the Council of the European Union, our President, Malgorzata Kosla, spoke about the role of motivated, entrepreneurial parents and the power of patient-led research. Change happens when patient organizations are equal partners in research consortiums.

Given the “valley of death” in translational research (as highlighted by Anton Ussi in his speech), partnership with patient organizations isn’t optional. It’s essential. Patients have to be an equal partners in RD research ecosystem.

The conference was co-organized by: Polish Ministerstwo Zdrowia, ERDERA and Krajowe Forum Orphan and hosted by Warszawski Uniwersytet Medyczny.

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🎥 Below is a fragment from Malgorzata's talk at the “Towards an EU Action Plan on Rare Diseases” side event (11.04.2025).
Full recording available here: https://www.eesc.europa.eu/en/agenda/our-events/events/conference-towards-eu-action-plan-rare-diseases/recording-1104
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Support us:
PL: www.misjalek.pl
EN: www.pacs2research.org/donate

I never imagined I’d cook dinner with the Polish Minister of Health — but our missionCURE (misjaLEK) keeps surprising u...
08/04/2025

I never imagined I’d cook dinner with the Polish Minister of Health — but our missionCURE (misjaLEK) keeps surprising us in so many ways.

As part of the Fundacja Wielka Orkiestra Świątecznej Pomocy annual charity, four incredible women — Anita Demianowicz, Anna Hernik, Paulina Socha-Jakubowska, and Aleksandra Kakol — won an auction to cook with Minister of Health, Izabela Leszczyna (Ministerstwo Zdrowia). More than just a symbolic gesture, it became a powerful way to start a meaningful conversation about the healthcare system — this time, from the perspective of patients and caregivers. The dialogue began during an official meeting at the Ministry of Health, and for the cooking session itself, they brought together 20 healthcare activists — patients, caregivers, and physicians.

I was honored to join the dinner and, together with Anita and Justyna Walczuk from MEK2 Research Foundation, bring the voice of rare disease families to the table.

Three hours of deep, complex discussions touched on many aspects of the Polish healthcare system — especially pediatric care, oncology, and rare diseases. I had the opportunity to highlight the challenges faced by patient organizations striving to engage in research for ultra-rare diseases. The Minister’s openness to change offers real hope.

And the outcome? Real actions are already underway. Some issues will take time, but others don’t require broad legislative changes. One promising development is the planned creation of a Patient Consultancy Council — a next step to systematically address key challenges, one by one.

Fingers crossed. Change is coming.

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One of the group’s postulates is to allow parents to stay with their children in intensive care units, so children get best psychological support - parental love - and don't die alone. You can support the petition on this matter here: https://www.petycjeonline.com/petycja_w_sprawie_zapewnienia_rodzicom_dzieci_hospitalizowanych_w_oddziaach_intensywnej_terapii_caodobowego_towarzyszenia_rodzica

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Support our Foundation work!

> https://www.siepomaga.pl/misja-lek/

or https://www.pacs2research.org/donate

or if you are employed in Poland, by dedicating 1,5% of your PIT to our Fundacja PACS2 Research Foundation - KRS: 0000970620.

We are honored to join the Warsaw Health Innovation Hub as a member, alongside institutions such as Polish Association f...
25/03/2025

We are honored to join the Warsaw Health Innovation Hub as a member, alongside institutions such as Polish Association for Good Clinical Practice (GCPpl), INFARMA - The Employers’ Union of Innovative Pharmaceutical Companies, Fundacja Urszuli Jaworskiej, American Chamber of Commerce in Poland and 5 other esteemed insitutions (more: https://whih.abm.gov.pl/whi/aktualnosci-1/3041,10-nowych-Czlonkow-dolaczylo-do-Warsaw-Health-Innovation-Hub.html)

The Warsaw Health Innovation Hub is an initiative of the Polish Medical Research Agency (Agencja Badań Medycznych) — a unique platform designed to foster collaboration between public, private, and scientific institutions to strengthen Poland's innovation in the biomedical sector.

We are excited about this opportunity and grateful that innovative patient organizations have a seat at the table.

Fundacja Rodziny Maj im. Piotra Maja has provided financial support for one of our main projects: drug screening using t...
23/09/2024

Fundacja Rodziny Maj im. Piotra Maja has provided financial support for one of our main projects: drug screening using the cell-painting method, conducted in collaboration with Charles River Laboratories and Perlara PBC. It's a rare occurrence, but we are at a loss for words to describe how we felt at the moment the transfer was made...THANK YOU!

Fundacja Rodziny Maj im. Piotra Maja is an organization with a mission to make helping easier. They are building a supportive community, following the principle "Everyone has something to give" (B. Bush), inspiring the Polish entrepreneurial environment to run socially engaged businesses, and most importantly, focusing on those in need to provide real help.

Philanthropy that invests in science is one of the reasons why patient organizations in the USA are able to make rapid progress.
In Poland, this is rare. It's uncommon to invest in topics that aren't hot in the media (and rare diseases aren't), especially those that are as innovative as they are challenging.
That's why we are even more grateful to Fundacja Rodziny Maj for listening to us, hearing us, believing in us, and taking a step that gives hope not only to PACS2 research but also to the Polish community that wants to contribute to the development of drugs in various fields.

We strongly believe that this will lead the way for others who want to make a real contribution to society.

Collaboration is the prerequisite to treating rare diseases.This is why we are thrilled to actively participate in this ...
19/09/2024

Collaboration is the prerequisite to treating rare diseases.

This is why we are thrilled to actively participate in this week's conference organized by the Czech Center for Phenogenomics. We not only had the opportunity to present our work, with Piotr Kosla, Kacper Lukasiewicz and Dominik Cysewski representing PACS2 team in Prague, but also strengthened the three-way collaboration between researchers from the Czech Center for Phenogenomics, The Jackson Laboratory, and Uniwersytet Medyczny w Białymstoku [the Medical University of Bialystok]. They all support us in working on the PACS2 mouse model – including its humanized version – as well as its advanced phenotyping.

Thank you for your ongoing support for rare disease community!

Reflecting on our journey, we often feel like we’re just doing what’s necessary for our daughter and other PACS2 kids. B...
16/09/2024

Reflecting on our journey, we often feel like we’re just doing what’s necessary for our daughter and other PACS2 kids. But the “Unlocking Hope for the Ultra-Rare” conference was a moment to truly appreciate the impact we’ve made. Organizing it in a team of 1.5 people 😉 was not a piece of cake, but every moment of hard work was worth it.

Now that the event is behind us, we want to extend our heartfelt thanks to everyone who made it possible:

- Krzysztof Szczałuba, Dominik Cysewski, Kacper Lukasiewicz – Thank you for always being available to brainstorm ideas and offer support throughout the preparation.
- The PACS2 researchers team – Your dedication, openness, and passion not only bring hope but we believe, inspire each other for pushing forward for the benefit of patients.
- Daria Julkowska – Thank you for attending our (yet!) niche conference, for sharing invaluable insights from a European perspective, and for challenging us to address the gaps that remain. And Tomasz Grybek – Even though you couldn't join us in person, your engagement and support were truly felt. And I also believe we will collaborate much more in the future.
- Warszawski Uniwersytet Medyczny for hosting the event. Special thanks to Mr. Piotr from the multimedia team, whose help saved us from a ton of stress.
- Our volunteers who supported us on site - my amazing colleague Magda, the five fantastic women: Klara, Sara, Aneta, Ula & Ania from Polish Centralny Ośrodek Informatyki, and Janek, our photographer – we couldn’t have done it without you!
- Our sponsors: Charles River Laboratories, AstraZeneca, and Takeda – Your support for building an innovative community for rare diseases in this part of Europe demonstrates a genuine commitment to supporting patients with rare conditions.

The event may now be a memory, but the impact and hope we’ve unlocked will continue to drive us forward.

> Photo credits: Jan Szorc

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