About PACS1 Research UK
PACS1 Syndrome is a very rare genetic condition caused by mutation of the PACS1 gene. There are just 100 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.
Our charity is trying to raise awareness of PACS1 and contribute to further research and support of people with this condition.
PACS1 Research UK Registered charity number 1173691