PTEN Hamartoma Tumour Syndrome (PHTS) is a rare condition caused by mutations in the PTEN gene which is crucial for maintaining control over cell and tissue growth.
The main symptoms of PHTS are an increased risk of cancer, in particular breast, thyroid, kidney and endometrial, as well as neurodevelopmental delay and an increased incidence of autism.
There is no cure or treatment for PHTS and awareness of the condition is relatively low, presenting significant challenges to patients, families and clinicians alike. Care consists of cancer surveillance in conjunction with behavioural therapy and surgical intervention, as appropriate.
Making a difference:
We believe there are many opportunities to make meaningful advances in research into the causes of PHTS, and into developing therapies for the disease.
Since the discovery 20 years ago of PTEN as a key tumour suppressor, that is often mutated in cancer, a large amount of research has been done to understand how PTEN functions and to develop targeted drugs to treat cancerous tumours with PTEN mutations. These drugs hold promise to be repurposed into a preventative treatment for PHTS patients. Drug repurposing research is an example of an area already being funded by the Foundation through several projects.
Who we are:
We have a team of individuals combining scientific and research backgrounds, project management, business development and fundraising. Our team is advised by a Scientific Advisory Board bringing academic research, clinical research, and drug development expertise to the Foundation.
Our ambition is to build and work with the community around PHTS, engaging leaders in the fields of research and clinical care, to collaborate, and identify research projects and potential treatments that will lead to effective therapies.
We fund academic and clinical research projects, and we provide support for building networks between clinicians, researchers, corporate partners and patients.
The Foundation is based in London and has a global scope and remit; this is particularly important in the case of a rare disease such as PHTS, where the best researchers and clinicians may be geographically spread.
For Healthcare Professionals
Launch of Clinical Trial to Investigate the Efficacy on Neurocognition and Behaviour of Everolimus in Children and Adolescents with PTEN Mutations