News

Family Portrait Schoolchildren

23.06.2026

“Expect nothing, be happy with what you get.“ Aneta and Kacper are the parents of Emilia (11 years) and Karol (5 years), both children have PCH2a. In their family portrait they talk about a long time of uncertainty at the beginning of their PCH-journey, how they manage life nowadays, what is special about their children and what gives them strength everyday.

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Rare Disease Run 2026 in Karlsruhe – Science Meets Families

13.03.2026

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.

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1st 2026 PCH2cure Research Meeting at KIT

03.03.2026

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.

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Order of Merit for Our Colleague Dirk Strecker

17.12.2025

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…

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2. PCH Research Network Meeting in Karlsruhe, Germany

11.07.2025

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.

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Meeting of the “Rare as One” network in Nevada, USA

11.07.2025

In June 2025, Dr. Julia Matilainen, representing the PCH2cure-project, attended the “Rare as One” meeting of the Chan Zuckerberg Initiative in Nevada, USA.

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Doctoral Thesis on PCH2A Successfully Defended

We congratulate Alice Kuhn on her doctoral thesis titled “Gastrointestinal Symptoms, Nutrition, and Thriving in Pontocerebellar Hypoplasia Type 2A.” The thesis addresses survival, diagnosis, and gastrointestinal symptoms in children with PCH2A, as well as their clinical management.

Published: 23.06.2026

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Disease-specific percentiles can help to monitor the individual development of a child with PCH2A

With the newly published article ‘Growth charts for pontocerebellar hypoplasia type 2A’, we are the first to create disease-specific percentiles for PCH2A.

Published: 25.07.2025

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Overview of tRNA splicing and PCH2

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.

Published: 17.04.2025

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