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.
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.
In their recently published preprint “Brain morphometry and psychomotor development in children with PCH2A”, Pretzel et al. analyzed 78 brain MRIs from a total of 57 children with PCH2A.
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.
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).
