News

1st 2025 PCH2cure Research Meeting at KIT

20.02.2025

On January 20, the core scientific team of PCH2cure met with scientists and physicians from Tübingen, Freiburg and Karlsruhe at the Karlsruhe Institute of Technology (KIT) to discuss new projects and set goals for the year 2025.

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CZI Funding of PCH2cure Continues

14.01.2025

The Chan Zuckerberg Initiative (CZI) is now officially funding the PCH2cure project for a second round.

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Embrace the colorful journey

19.11.2024

Artist with PCH2 “My name is Damien and I am a disabled artist.” This is how 29-year-old Damien from Canada introduces himself on his website. But Damien doesn’t just have…

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Cruise4Life – „Ship Ahoy, Cast Off!“

13.11.2024

Finally, on 27 August 2024, the time had come for us, the PCH FAMILY, to set sail from Kiel on board the AIDAnova. One week of cruising the Kattegat and Skagerrak lay ahead of us, and nobody could begin to imagine the experiences we would have together.

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Cerebellar conference Heidelberg

31.10.2024

From September 11 to 13 2024, the conference “Cerebellar Development and Disease at Single-Cell Resolution” took place in Heidelberg.

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National Ambassadors Wanted

15.10.2024

It takes the commitment of many people to raise awareness of a disease as rare as PCH2, help find supporters and provide the best possible support for patients and their families.

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PCH2cure Work Package: Brain Organoids as a Model for PCH2

Our aim is to use cerebellar and cerebral organoids to recreate PCH2 under laboratory conditions. With a suitable model of PCH2, we can then find out whether and in what way cells with PCH2 differ from healthy cells.

Published: 08.11.2024

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PCH2cure Work Package: Gastrointestinal Symptoms in PCH2A

Typical gastrointestinal symptoms in patients with PCH2A (feeding difficulties, reflux, vomiting, bloating, constipation, defecation disorders, dysmotility, cramping abdominal pain, restlessness) are recorded in a standardized manner and compared with a control group (children and adolescents with other types of severe neurological impairment).

Published: 26.09.2024

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PCH2cure Work Package: Imaging of the Brain

The severe neurological symptoms seen in children with PCH2A are caused by how the disease affects the brain. MRI allows us to visualize these abnormalities more precisely and thus gain important insights into the disease.

Published: 26.09.2024

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