PTEN Research is a UK-registered charity. We fund and facilitate research that will lead to new and better treatment for PHTS, a rare genetic condition which currently has no health authority approved therapies. We do this by funding PHTS research projects and bringing together a global network of PHTS focused experts and other key partners.

PTEN hamartoma tumour syndrome (PHTS) is a rare genetic disease caused by mutations in the PTEN gene. An individual with a PTEN mutation may be diagnosed as having Cowden Syndrome (CS), Bannayan-Riley-Ruvalcaba Syndrome (BRRS), or Autism Spectrum Disorder (ASD) associated with macrocephaly (large head). Together this spectrum of conditions is known as PHTS.

Registered charity number: 1173589

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