To honour the work and legacy of Prof Charis Eng, a Targeted Call will be launched later in 2025 in her memory.
Prof Eng was a true leader and pioneer in the field of PHTS and cared deeply for the people with PHTS that she treated. Prof Eng also played a pivotal role in shaping the scientific strategy of PTEN Research and was always generous with her time and wise counsel.
The scope of this call will be to build on previous work led by the Eng lab to characterise genotype/phenotype relationships in PHTS and understand how different PTEN variants impact molecular and phenotypic changes that may be associated with clinical presentations, exploring opportunities to identify and undertake preliminary validation of predictive/prognostic biomarkers in PHTS.
To pre-register your interest for the upcoming call, please email research@ptenresearch.org and we will provide further details when the call is announced.
Grants awarded through this call are intended primarily for non-clinical research projects that aim to directly advance understanding of the disease mechanisms underlying PTEN hamartoma tumour syndrome (PHTS) and facilitate the development of new therapeutic options for PHTS. Specifically encouraged are proposals that not only have translational potential but also incorporate the use of recently generated PHTS patient-derived induced pluripotent stem cells (iPSCs) that will be available through a US-based biorepository later in 2024.
Funding eligibility is open worldwide for principal investigators with an MD or PhD, who are affiliated with recognised academic or clinical research institutions and have an established research programme.
Funding requests of up to 220,000 GBP (or the equivalent in the host institution’s local currency) will be considered, for a project of 2 to 3-years in length.
Key dates:
A printable version of this Targeted Call, including more detailed information, can be downloaded here
Contact
For any queries on any of the above, please e-mail research@ptenresearch.org with the subject line “PTEN Research Targeted Call enquiry”.
PHTS is a rare syndrome caused by a germline mutation in the PTEN gene and associated with a variety of symptoms in multiple organs, including macrocephaly, neurocognitive deficits (including autism spectrum disorder and cognitive impairment), vascular anomalies, gastrointestinal polyposis, and benign lesions of the skin (hamartomas). PHTS is also associated with a significantly increased lifetime risk of developing cancer (most commonly breast, thyroid, and endometrial). The spectrum of symptoms and their severity vary widely between individuals affected by PHTS. There are no health authority-approved treatments specific to PHTS and clinical management of PHTS consists of supportive care and cancer surveillance.
PTEN is a broadly expressed tumour suppressor protein that acts as a lipid and protein phosphatase in cells. Its primary and most well-established role is to negatively regulate PI3K/AKT/mTOR signalling. This regulation is achieved through the dephosphorylation of the lipid second messenger PIP3, synthesised by PI3Ks. As a result, PTEN effectively suppresses various cellular processes, such as proliferation, survival, metabolism, and migration. PTEN has also been shown to have non-enzymatic functions, which are less well understood, especially in the context of PHTS.
While hyperactivation of the PI3K/AKT/mTOR pathway is observed in affected cells and tissues in PHTS, and the pharmacological inhibition of mTOR with rapalogs (sirolimus and everolimus) has shown activity in pilot clinical trials and case studies of specific PHTS patient subsets, the molecular processes that are deregulated upon germline PTENmutation and that drive the pathological manifestations observed in tissues affected in PHTS remain incompletely understood.
The PTEN Research Foundation (‘PTEN Research’) is a UK-based medical research charity with the mission to fund and facilitate research that will lead to new and better treatments and improved outcomes for PHTS. PTEN Research funds scientific research to improve understanding of clinical and molecular aspects of PHTS, and to evaluate existing and new drugs as treatment options for PHTS. The Foundation’s strategy is centred on repurposing existing drugs that target the PI3K/AKT/mTOR signalling pathway, with a particular focus on the non-malignant manifestations of PHTS that are associated with high unmet medical need, namely neurodevelopmental delay, and vascular anomalies. Further information on the Foundation’s research strategy, and currently supported projects, is available here.
Terms and conditions of applications
All applications submitted to PTEN Research, either in the form of Project Proposals or Full Applications are subject to PTEN Research’s Terms and Conditions of Grant Applications.
Confidentiality statement
If you wish to include at any stage of you application any results, data, or background intellectual property that might thereby constitute a public disclosure, please contact PTEN Research and we will provide a Confidentially Agreement, as appropriate.