“He won’t be able to play football with you, but he will cheer you on!”
These are the words with which the parents of Tim, now 3 years old, explained the condition of the newborn family member to his two older brothers.
“What helped most was the endless love for my children”. Brigitte from Germany is the mother of Leonard and Kilian, both of whom have PCH2. Leonard died in 1995 at the age of nine months. Kilian was born in 1996 and is now 27 years old.
February 28, 2025 was Rare Disease Day. To mark this day, the University Hospital of Tübingen made a short video together with Axel Lankenau, father of two sons with PCH2.
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.
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.
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.
Sleep problems are very common in (small) children. This is considered normal in the first year of life, as the sleep-wake cycle is still developing and waking up at night…
Reflux comes from Latin “refluxus” and means backflow. Gastroesophageal reflux occurs when (acidic) stomach contents flow back into the esophagus. This happens when the sphincter muscle between the esophagus and…
Epilepsy means that the brain or individual areas of the brain are overactive and send out too many signals. This can be detected by means of an electroencephalogram (EEG, recording…
