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.
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.
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).
The term pontocerebellar hypoplasia (PCH) refers to a group of disorders characterized by abnormal brain development leading to severe intellectual and physical disability. They are inherited in an autosomal recessive…
In most cases, the unborn child is not diagnosed with PCH2 during pregnancy. However, it has been possible to diagnose the condition before birth using genetic testing for several years…
Puberty is a time of change. The child turns into an adult, both physically and mentally. With the onset of sex hormone production, the adolescent body begins to change. Course…
