What does it mean?

A deviation or a mutation on the FoxP1 gene, is a genetic disease that can occur spontaneously (de novo) as well as be hereditary. An altered protein structure causes a syndrome with different symptoms, which influences the neurological development. Simply said: This gene generates a wrong protein which causes problems for the whole mental and physical development.

A deviation on the FoxP1 gene can cause several different symptoms:

  • Intellectual disability
  • Speech disorder
  • Poor fine and gross motor skills development
  • Autism or autistic like features
  • Strong diminished immune system
  • Visual problems
  • Highly Sensitive
  • Anxiety
  • Poor concentration skills
  • Hyperactivity

Approximately 100 children around the world have been diagnosed with a variant of the FoxP1 syndrome. The actual amount will be much higher seeing as these genetic tests have only been able to discover this syndrome for 8 years.

The severity of the symptoms are different and vary for each child. Some of them just need some extra help and can lead almost normal lives. Unfortunately, others need 24-hour care and guidance throughout their entire lives.

There are indications that a possible repair of these effects of this FoxP1 syndrome is conceivable and that is exactly what we want to prove through our research. Many other genetic disorders have the same effects on the human system, because of the production of the altered proteins. The solution for the FoxP1 syndrome would therefore be of significant influence in finding a solution for many other genetic disorders.

A new FOXP1 International patient organization has been established since 2021: