PACS1 Syndrome is a very rare genetic condition caused by mutation of the PACS1 gene. It is not inherited from either parent (a “de novo” mutation) but it will be passed on to a patient’s child. As of 2023, there are now 150 cases that have been identified worldwide.

Diagnosis is typically done using full genome or exome sequencing. Both methods are expensive and not easily available. There are likely many more cases out there, that will eventually be reported as people learn about the condition, and testing becomes more affordable and available.

In combination, this condition affects walking, talking, feeding, and learning skills. No impact on life expectancy has been found. Currently there is no single “cure”.

We set up a charity fund called PACS1 Research UK and trying to raise money to start the research and possible cure of some kind. We are holding events all around the world but with only 50 children diagnosed we are a small group of parents trying to raise money.

If you would like to help and support us please send your donations to:

PACS1 Research UK

HSBC account 71715887 sort code 40-12-03

Just Giving PagePACS 1 UK Site