On May 1, 2024, the pch2cure.org website officially went live. A lot has happened since then! Over the past two years, the platform has grown to include numerous family portraits, practical tips for daily life with PCH, and engaging webinars led by experts for the PCH community.
When we started, our goal was to become the top search result on Google. We have achieved just that: today, anyone searching for “PCH2” anywhere in the world will land directly on our site. Furthermore, AI agents like ChatGPT now frequently draw their information directly from pch2cure.org when asked about it.
Family portraits
There are a total of nine family portraits, featuring both German and international families:
- Anke with Sebastian and family
- Anna with Nele and family
- Dirk and Nellie with Linn and Ann
- Paolo and Anna with Emiliano and Emjay
- Lisa and Jan with Max
- Judith and Alex with Lotti, Daisy and Theddy
- Brigitte and Josef with Leonard and Kilian
- Alina with Tim and family
- Aneta and Kacper with Emilia and Karol
Life Hacks
Our “Life Hacks” serve as a valuable resource for living with PCH, and cover a wide range of relevant everyday topics :
- Feeding Difficulties
- Pregnancy, Birth, and Neonatal Period With a Child With PCH2
- Puberty and PCH2
- Incidence and Inheritance
- Development
- Apnea
- Sleep Disorders
- Motor Disorder
- Gastro-Esophageal Reflux / Increased Vomiting
- Epilepsy
- Dystonic Attacks / Crises
- Forms of PCH
- Feeding Tubes
- Thermoregulatory Disorder
- Constipation
Webinars
To date, we have hosted five webinars for PCH families. Presentation slides are available for download for each event, and video recordings are available for select sessions:
- Online consultation: „Meet the expert“ about epilepsy in PCH + download
- Online consultation: “Meet the expert” about nutrition and gastrointestinal problems in PCH2 + download
- Online consultation: “Meet The Expert” about Personalized Gene Therapy + download
- Online consultation: “Meet the expert” about restlessness in PCH2 + download
- Online consultation: “Meet the expert” about the patient brochure + download
Research in the PCH2cure project
In addition, many updates on PCH research have been published:
- Doctoral Thesis on PCH2A Successfully Defended
- Disease-specific percentiles can help to monitor the individual development of a child with PCH2A
- Newly Published Data on Brain Development in Children with PCH2
- PCH2cure Work Package: Brain Organoids as a Model for PCH2
- PCH2cure Work Package: Gastrointestinal Symptoms in PCH2A
- PCH2cure Work Package: Imaging of the Brain
- Brain Models Help in Researching PCH2
Existing knowledge about PCH
Existing scientific knowledge about PCH has been translated into an accessible format to help families better understand the condition:
- What’s new in pontocerebellar hypoplasia? An update on genes and subtypes
- Natural course of pontocerebellar hypoplasia type 2A
- Clinical, Neuroradiological and Genetic Findings in Pontocerebellar Hypoplasia
- A Milestone in PCH2 Research – the Genetic Cause Was Discovered
- First systematic description of PCH type 2
- The Inherited Syndrome of Microcephaly, Dyskinesia and Pontocerebellar Hypoplasia: a Systemic Atrophy With Early Onset
News
We have also published plenty of interesting news, including an article on the Rare Disease Run 2026, a summary of our latest research meeting, and a feature on our colleague Dirk Strecker being awarded the Order of Merit of the Federal Republic of Germany.
We are delighted that pch2cure.org has become a thriving knowledge and exchange platform that draws in a diverse global audience. We look forward to continuing to share excellent articles and updates on all things related to PCH.
