About PACS1 Research UK
The story of PACS1 is a difficult one, as nobody really knows what the future holds for our children. What happens to our children when we die is a huge burden on the parents, so we want to learn as much about it as we can. We need £25,000 to start the research and the possibility of a cure in the future. We are holding events all around the world but we are only a small group of parents trying to raise money. PACS1 Syndrome is a very rare genetic condition caused by the mutation of the PACS1 gene, causing:
– Low muscle tone (“floppy baby”)
– Seizures (usually short and sporadic)
– Repetitive stimulation (similar to Autism Spectrum Disorders)
– Sensory over/under sensitivity (similar to Autism Spectrum Disorders)
– Motor planning difficulties (affects movement and coordination)
– Delayed physical and cognitive development
– Chewing and swallowing difficulties
– Digestion and/or bowel problems
– Slower growth resulting in lower height and weight
In combination, these traits affect walking, talking, feeding, and learning skills. No impact on life expectancy has been found.
As of early 2017, there are just over 50 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 more cases out there, that will eventually be reported as people learn about the condition, and testing becomes more affordable and available. But we need your help.
PACS1 Research UK Registered charity number 1173691