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…
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.
In June 2025, Dr. Julia Matilainen, representing the PCH2cure-project, attended the “Rare as One” meeting of the Chan Zuckerberg Initiative in Nevada, USA.
“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.
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.
Constipation is defined as infrequent or difficult spontaneous defecation. It is usually characterized by hard stools and pain during defecation, as well as abdominal pain and bloating. The Situation With…
The normal body temperature of a child depends on several factors (age, measurement method, time of day, activity level, etc.). On average, the normal rectal temperature ranges between 36.6 and…
Many families are initially hesitant about tube feeding – sometimes because it feels like an escalation in the child’s medical care away from perceived normality, and sometimes out of concern…
