what is gene therapy?

Gene therapy is an technique that uses genes to treat disease. This technique allows doctors to treat a disorder by inserting a gene into a patient's cells instead of using drugs or surgery. In Hasti's case, this would mean inserting the correct copy of a gene into her cells to compensate for her dysfunctional HDAC8 gene.

To get the functioning copy of the gene into the cells of the body, a carrier called a vector is genetically engineered to deliver the gene.  Certain viruses are often used as vectors because they can deliver the new gene by infecting the cell. These viruses are modified so they can't cause disease when used in people.  In our case, an adeno-associated virus (AAV), would be used to introduce the functioning gene into the nucleus of the cell. 

our research journey


Phase one of the project involves the design and manufacture of the adeno-associated vector (AAV) which will be used as the delivery mechanism for the correct copy of the gene to be delivered into the patients' cells . 

Dr Neil Hackett has designed the vector which will in turn be manufactured by the molecular biologists, virologists and engineers of Vigene Biosciences.

This phase of the research will also include the development of a bespoke disease model which will have a HDAC8 gene dysfunction that closely resembles this same dysfunction in humans. This model will be the closest representation of the disease in a mammalian model that has ever been created for study and will provide valuable insights into progression of CdLS.

The Jackson Laboratory will develop theis model which CDLS - Hope for Hasti will make freely available for further scientific and medical study


Phase two of the study involves the conduct of a natural history study of the mice with the HDAC8 gene dysfunction. This history study will closely monitor the development and behaviour of the mice, gathering data in order to understand how the disease develops.

The data gathered during this phase will form the baseline against which the efficacy of the gene therapy administered in the next phase will be measured.

A wide range of data will be collected which may include data such as life expectancy, number of seizures, size at birth, growth velocity, musculoskeletal development and a variety of behavioural markers that will indicate cognitive development. It is not believed that this kind of study has ever been done before to better understand the progress of CdLS and some of the causes of the more complex behavioural phenotype associated with the condition. 


The third and final phase is to administer the gene therapy to the models and to monitor their development following treatment. 

The therapy will be administered at various stages of development and at a variety of dosages and the resulting data gathered. This data will be measured against the baseline data collected during the previous phase. 

With this information the research team will be able to zero in on the optimal methodology for the administration of gene therapy to maximise therapeutic effect.This phase also includes a full toxicology study to ensure that the therapy is completely safe. 

All of the results of the study will be published and made available for peer review. The findings will also be presented to the necessary drug administration authorities to seek their approval to commence clinical trials. 



Tel:  0044 79201 62569


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