We fund scientific and medical research that we hope will result in the development of therapy options for adults and children with PHTS within the next 10 years. The pursuit of this goal should also lead to improvements in the care of people with PHTS.
This is a significant task but we are not starting at the beginning. As well as being involved in PHTS, PTEN, and other genes like it, are often altered in cancers that spontaneously arise. Since the discovery of PTEN 20 years ago, scientists have gained a great deal of knowledge about how these genes work in cells and tissues, which is helpful for those researching PHTS.
As well as drawing on existing knowledge about how PTEN works, we can also draw on existing knowledge about PHTS. People directly affected by PHTS are experts on the condition and help us understand what would make the most difference to their lives.
Developing new medicines is a long and complicated process. It starts with research designed to understand exactly what causes the condition, so that medicine candidates which target the cause can be identified. It finishes with large scale clinical trials in people with the condition to show that a new medicine is effective and safe enough to be prescribed by doctors.
Find out more about how new medicines are developed here.
The research we fund covers this whole process. Supported projects include both the discovery of completely new potential medicines for PHTS, and finding out if existing medicines, already used to treat other conditions, might also help people with PHTS.
Our current and planned research projects include:
These studies recruit volunteers with PHTS, and record both what happened in their past and then follow them up over time. The information collected is analysed to better understand how PHTS-related symptoms change over time in different people. These are sometimes described as natural history studies.
Find out here how one of our projects is studying cancer outcomes in a large group of people with PHTS
Find out here how another is studying people in the UK who have PHTS.
We invite researchers to send us proposals for PHTS research projects in two different ways:
All research proposals are reviewed in detail by the Foundation, and in most cases by external experts in the field of the proposed research project. The proposals that are considered of outstanding value to the Foundation after this review are also evaluated by our Scientific Advisory Board, which includes experts in PHTS basic and clinical research, and in medicines development. Only the projects these experts feel meet our requirements will be recommended for funding. Ultimately, our Trustees, who are responsible for ensuring that PTEN Research charity funding is used responsibly, have the final say on what is funded and what is not.