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.
We are very pleased that our colleague, Dirk Strecker, was recently awarded the Order of Merit of the Federal Republic of Germany. Several local media outlets reported on this (in…
In June 2025, Dr. Julia Matilainen, representing the PCH2cure-project, attended the “Rare as One” meeting of the Chan Zuckerberg Initiative in Nevada, USA.
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.
