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Early Career Innovators: AAV Delivery in Dravet Syndrome, Cell & Gene Therapy TIN

By Alina Shrourou, on 16 June 2021

In this Cell & Gene Therapy TIN interview as part of the Early Career Innovators series, recognising the amazing translational work being done by postdoc and non-tenured researchers within the UCL Therapeutic Innovation Networks (TINs), Dr Juan Antinao Diaz highlights his Cell & Gene Therapy TIN Pilot Data Fund awarded project, involving AAV delivery in Dravet syndrome.

What is the title of your project and what does it involve?

This project is called “AAV delivery of an NaV1.1 activator for the treatment of a Dravet Syndrome mouse model”. Dravet syndrome is a childhood epilepsy, caused by a mutation in one of the two copies of the SCN1A gene, which encodes the NaV1.1 ion channel. This results in a diminished expression of the protein, leading to the symptoms observed in patients. This project attempts to use a small molecule to enhance the function of the remaining NaV1.1 channels in a mouse model of Dravet Syndrome to hopefully alleviate the disease phenotype. To deliver the small molecule, we are using an Adeno-Associated viral (AAV) vector.

What is the motivation behind your project/therapeutic?

Dravet syndrome currently has limited treatment options, which struggle to control prolonged seizures and other comorbidities such as developmental delay. Patients with Dravet Syndrome unfortunately have an 15-20% mortality rate due to Sudden Unexpected Death in Epilepsy (SUDEP). In this project we aim to deliver a small molecule to enhance the function of NaV1.1 by using a AAV viral vector. As a proof-of-concept study we will aim to test this pre-clinical treatment in a mouse model of Dravet Syndrome, which also has a mutation in one of the two copies of Scn1a gene. If successful it could potentially offer an alternative treatment for Dravet Syndrome patients.

Can you highlight any challenges have you experienced as an early career researcher in the cell and gene therapy/translational research space?

I am currently in my first post-doctoral position. I would say the biggest challenge is the need to find funding for future projects. Although I was aware of this before, having to actually do it is a completely new “skill” on its own. Having no major track record has been a problem as most funding schemes require some history in the field to be eligible to apply, something that I currently do not have.

Why did you want to apply to the Cell & Gene Therapy TIN Pilot Data Fund?

This project is an exciting opportunity for me, as it is an idea I have had for some time, but could not figure out how to test it. If the results are promising, it will allow me to continue this work, applying to bigger grants, which otherwise I would have not been able to do, as these grants usually require preliminary data that for me as an ECR would have been difficult to generate without funding. The Cell and Gene Therapy TIN has given me the opportunity to kick-start this path.

Join the Cell & Gene Therapy TIN to keep up with upcoming funding opportunities. 

How did you find the process for the TIN Pilot Data Fund? What did you learn?

The process was simple. The application form was only a few pages long, mainly asking for details about the idea and how I was planning on executing it. I got the chance to participate in an ACCELERATE training session, which was extremely helpful when I had to present my project to the committee reviewing the applications. The suggestions I received from the coach have also been useful in other aspects, like explaining my research in terms that are easier to understand to an audience that is not familiar to the field I work in.

ACCELERATE’s online, self-paced translational training programme, ACCELERATE Potential, is now open for completion, to all. Learn more and sign-up.

What do you hope to achieve in the 6 months duration of your project?

During this time, I hope to generate preliminary data, mainly asking if the approach I proposed would be feasible as a possible treatment for Dravet Syndrome. I will test my vector in a mouse model of the disease and if the treatment modifies the symptoms, that data will become the basis on which I could apply for a bigger funding to continue this work. The timeline has been modified by COVID-19, but I am currently starting to produce the vector and hopefully I will start treating the first mice in the next few months.

About Dr Juan Antinao Diaz

Juan headsh

Dr Juan Antinao Diaz is a Research Fellow in the Maternal and Fetal Medicine department at the UCL EGA Institute for Women’s Health.

He completed his PhD at UCL in September 2020 and continued his work in UCL as a research fellow since then.

He is currently researching the use of a gene therapy vector in Dravet Syndrome.

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