Programme details


The forward programme

The comprehensive EHE research programme led by Dr Rubin involves four main areas:


1. Cell and animal-based model systems

Dr Rubin's research team are attempting to grow in culture, cells containing the chromosomal translocation (the WC Fusion) associated with EHE. They are also genetically engineering an EHE mouse model. This is particularly important as it would generate a ready supply of EHE cells to study the biology of EHE and to test therapies.


2. Diagnosis

Members of the research team are developing molecular tools that would enable pathologists to objectively classify tumours that have the EHE translocation. This would make the diagnosis of EHE much more reliable.


3. Prognosis

In collaboration with Cornell University Medical College, Dr Rubin is studying the genetics of EHE, to understand which tumours will become aggressive and which will remain indolent. This is a fundamental question that is key to the management of EHE. He is also working with researchers at the Translational Genomics Research Institute (TGen) to try and detect circulating EHE tumour DNA in the blood of EHE patients. This would enable clinicians to determine when tumours are progressing, or whether patients are responding to therapy.


4. Treatment

It is difficult to do clinical trials of therapies for rare cancers, because there are no large groups of patients. Therefore, because there are no recognized therapies, drugs are used ‘off-label’ in an experimental manner. Dr Rubin aims to change this by picking drug targets based on his mechanistic research, and to work with oncologists to do clinical trials. His research group is already studying one inhibitor, trametinib (Mekinist), which is having beneficial effects in his cell-based model. One patient has been using the drug off-label and is showing a good response. Dr Rubin hopes to start a clinical trial of trametinib in the near future.


5. Research Update

For an update on Dr Rubin's research projects, please see the RESEARCH UPDATE note contained within the RESOURCES section of this website.