Current and past projects

 

Institution

Year

Lead PI

Description

Genomic Medicine Institute,
Cleveland Clinic; Stanford University; Boston Children's Hospital. USA
2017

Developmental
Synaptopathies
Consortium (Dr Antonio Hardan, Dr. Rabi Hanna, Dr Mustafa Sahin)

A Randomized Controlled Trial of Everolimus in Children and Adolescents with PTEN Mutations to evaluate the safety of everolimus  compared with placebo in patients.  The trial will also evaluate the efficacy of everolimus on neurocognition and behaviour in children and adolescence with PTEN mutations compared to placebo as measured by standardized, direct and indirect neurocognitive tools and behavioral measures (processing speed/working memory).
Genomic Medicine Institute,  Cleveland Clinic, Ohio, USA 2016 Dr Charis Eng

Development of a PTEN Center of Excellence with a focus on medical research and increasing understanding of biological effects of PTEN mutations.

Cancer Institute, University College London, UK 2016 Dr Bart Vanhaesebroeck

Development of transgenic mouse models for PHTS in order to test therapies to prevent tumours and alleviate neurological symptoms and immunological syndromes.

Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, UK 2016 Dr Robert Semple Building a UK-wide PHTS patient registry to refine understanding of lifelong risks associated with this condition, forming a basis for clinical trials and international collaborations.
Institute of Biological Chemistry, Biophysics and Bioengineering,
Heriot Watt University, UK
2016 Dr Nick Leslie To study how specific PTEN mutant proteins behave in the laboratory, in terms of whether they can be active enzymes and whether they are stable in cells. This should help to understand the phenotypes of the patients carrying these mutations, improve the management of their treatment, and may help predict how patients’ conditions are likely to develop as they grow older.