On February 9, the PCH2cure core scientific team, including researchers and clinicians from Tübingen, Freiburg, and Karlsruhe, met at the Karlsruhe Institute of Technology (KIT) to discuss new projects and set goals for 2026. The meeting was a major step forward in sharing current findings, identifying challenges, and launching new research initiatives.
Current Research Highlights
Dr. Wibke Janzarik presented the latest research on restlessness in PCH2, covering both gastrointestinal and neurological symptoms. Prof. Dr. Samuel Gröschel shared new results from brain imaging analyses and gave an update on a study regarding quality of life for PCH2 patients. Prof. Dr. Simone Mayer presented findings from her extensive work on disease mechanisms and genetics using brain organoids.
Fundraising Brochure and Major Donor Acquisition
A primary focus for the PCH2cure team remains the acquisition of philanthropic funding to facilitate essential research and therapeutic development for PCH2. To this end, a dedicated project team developed a fundraising brochure designed to engage and secure major donors. Several events are scheduled for 2026 to present this brochure to prospective supporters and ensure the continued financial viability of the PCH2cure project.
Networking and Personal Exchange
In addition to the scientific sessions, a group lunch provided a valuable opportunity for established researchers, junior scientists, and parent representatives to connect. The researchers and clinicians took a deep interest in the families’ experiences with the disease, as these insights can define the direction of future research.
Looking Ahead to an Eventful 2026
The meeting helped solidify numerous projects and collaborations that will drive PCH2 research forward and strengthen the bond between families and the medical community. Following the success of 2025, the “Meet the Expert” webinar series will continue. We also have two large-scale research meetings planned with external partners. Through this interdisciplinary work, we aim to gather and discuss new insights that bring us closer to a cure.
Objective: Establishing a PCH2 Therapy by 2030
The meeting at KIT highlighted how much can be achieved when everyone involved in PCH2cure works together in person. This dedicated collaboration gives us hope that our ambitious goal of finding a therapy for this rare disease by 2030 – is within reach.
