© private


© Private

1990: The First “Modern” Publication About PCH2

When Prof. Barth published a study on five families from the small fishing village of Volendam in the Netherlands in 1990, he had already spent more than 10 years researching PCH2, a disease that was first described in 1917. It would take another 18 years before it became clear that all PCH2A children had one common ancestor who lived in Volendam in the 17th century.


2005: The Start of a Parent Initiative for PCH Families

A parent initiative has existed in German-speaking countries since 2005, which initially communicated via a Yahoo mailing list and has operated a phpBB-based bulletin board since 2007.


© Illustration from Nature Genetics

2008: The Gene Locus Is Found!

In 2007, a group of Dutch and German researchers made a breakthrough in the search for the genetic cause of PCH2: They discover a single-point mutation in the TSEN54 gene.


© Private

2009: First Weeklong PCH Family Gathering

Gathering of PCH families together with clinical experts and geneticists. The main topics of discussion are the genetic cause of PCH2 and the consequences of its discovery.


© Private

2011: Second PCH Family Gathering

Gathering of PCH families together with clinical experts and researchers. The main topics are the management of the disease and Prof. Barth’s presentation on his 30 years of PCH research. At the end of his talk, he says, “And let me say two more things: First, I have never seen so many happy PCH2 children at once as I have here today. And second, I have never seen so many parents optimistic about life as I have here today.”


2014: First Natural History Study

Inspired by the parents of affected children, the first natural history study of PCH2 was conducted with 33 patients under the direction of Prof. Dr. med. I. Krägeloh-Mann from the University of Tübingen. The data formed the basis for the first parent brochure.


© private

2018: Founding of the PCH-Familie e.V. Association

Parents found the non-profit association PCH-Familie e.V. with the aim of raising funds to support the exchange between families and research into the disease. Projects such as Cruise4Life and #DoWhatYouCant as well as regular family gatherings at Lake Chiemsee aim, on one hand, to facilitate and promote exchange and, on the other, to bring attention to the families and their challenges.


2019: Founding of the Research Initiative PCH2cure

To support research, the PCH2cure research initiative is founded on the initiative of the PCH-Familie e.V. association together with the universities of Tübingen and Freiburg. With the help of donations, the parents’ association provides initial funding in several areas.

© Privat


2021: Beginning of the Second Natural History Study

Under the direction of PD Dr. Wibke Janzarik from the University of Freiburg, a second natural history study of PCH2 is being conducted with 65 patients. 


2022: Funding of $2 Million Awarded by the Chan Zuckerberg Initiative

An application by the PCH2cure research initiative to the American Chan Zuckerberg Initiative (CZI) secures scientific research funding of two million dollars over a four-year period at the end of 2022.


2023: Funding Awarded by the Köhler Foundation

Winning the Eva Luise Köhler Research Award for Rare Diseases in 2023 shows that children with PCH2 are facing their greatest opportunity in history to improve their quality of life and, in the medium term, to treat the disease.

In order to be able to continue this success story in the future, we ask for donations to support our research work at PCH2cure.

Köhler Preisverleihung
© Andrea Katheder