Developing and translating our understanding of PTEN into personalised treatments

Professor Charis Eng and her team have set up a research centre dedicated to studying the effects of PTEN mutations and the development of individualised treatments.

Key Facts

Lead researcher: Charis Eng

Institution: Cleveland Clinic

Type of research: Clinical translation research

Progress: Ongoing 

Why is the research needed?

It remains unclear why mutations in one gene – in this case, PTEN – can lead to seemingly diverse disease processes. By studying the molecular models and using computer aided analysis, Professor Eng’s team seeks to better understand the effects mutations have on the structure and function of proteins. Results from this research demonstrate the impact that ASD- (autism spectrum disorders) and cancer-associated inherited PTEN mutations have on the structure of PTEN, and will inform screening, prevention, and therapeutic treatment for resulting symptomatic disease processes.

Key elements of Professor Eng’s PTEN studies include the development and curation of a worldwide registry of patients with PTEN-associated autism and developmental delays (PTEN-ASD/DD), which will allow natural history to be understood, translational science studies that uncover the underlying biological drivers of the overt manifestations of PTEN-ASD/DD, a clinical trials unit for translating basic science discoveries into safe and effective treatments, and an applied neuroscience laboratory to understand and quantify the behavioural outcomes of PTEN-ASD/DD.

  • We look after patients by the gene and the gene pathways rather than the organ system. This is 22nd century precision medicine.

    Professor Charis Eng

What will the research enable us to do next?

Professor Eng’s team will continue to study how mutations alter communication within the PTEN protein structure, and how they interact with other partner pathways. This will help to inform a better understanding of their function and how they interact, inform cancer surveillance in patients, and seek potential drug targets.

In 10 years’ time, this work may have contributed to the development of personalised risk assessment and medical care with more precise prediction models of cancer risk in patients with PTEN mutations.

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About Professor Charis Eng

Professor Charis Eng, MD, PhD is the founding Chair of the Genomic Medicine Institute and founding Director of the institute’s clinical component, the Center for Personalized Genetic Healthcare, at Cleveland Clinic, as well as Professor and Vice Chairman of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine.

Professor Eng received her BA, MD and PhD from the University of Chicago, internal medicine residency at the Beth Israel Hospital, Boston and medical oncology fellowship at the Dana-Farber Cancer Institute, Boston.  She then underwent unique formal training in clinical cancer genetics at the University of Cambridge, UK.

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