Rare Disease Day is observed every year on February 28th. It is a day for global action, raising awareness and rallying support through events like the Rare Disease Run in Karlsruhe.
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 2nd PCH Research Network Meeting took place at the Karlsruhe Institute of Technology (KIT) in May 2025. International researchers, physicians and employees of the PCH2cure project came together in Karlsruhe, Germany.
With the newly published article ‘Growth charts for pontocerebellar hypoplasia type 2A’, we are the first to create disease-specific percentiles for PCH2A.
Pontocerebellar hypoplasia (PCH), a rare neurodevelopmental disorder, is associated with changes in genes coding for the tRNA splicing endonuclease (TSEN). This multicomponent enzyme is involved in generating essential building blocks for protein synthesis, a process that is crucial to establish and maintain the function of healthy cells. TSEN is found in every cell of the human body but the effect of the PCH-linked mutations only manifests in specific regions of the brain; a phenomenon not understood at all yet.
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.
