Dr Hannah Vanyai

Can you please tell us about your research?

When I came to this project, I was really interested in this idea of dietary supplementation. We're all very familiar with the idea of dietary supplementation such as in the context of pregnant women taking folic acid to support the neural tube development of the developing baby.

I was really interested in this idea of using dietary supplementation - the right supplement at the right time - to support the neurodevelopment of the children with the disorders that we're studying. I’m currently focussing on a disorder called Tatton-Brown Rahman Syndrome.

We believe this is a viable sort of pathway as we know what the underlying defect in these children is at the molecular level;  pathways that feed into the normal and disease function of that underlying molecule.

These pathways are fuelled by components of the diet - so if we can choose those correct supplements and bolster the diet of these children with neurodevelopmental disorders, can we support brain development in those early years to improve the neurodevelopmental outcomes?

That is something I have been very interested in and currently I am in the middle of looking at what happens when we introduce one of these dietary components - choline. We know that this feeds into the pathway that has an effect on the mutated gene that is present in children with Tatton-Brown Rahman Syndrome. I’m halfway through that process, which is a really exciting place to be at.

How has the Lorenzo and Pamela Galli Trust supported your career and allowed you to collaborate with other researchers?

I started as a PhD student in Anne Voss’s lab. I was working on a protein called Kat6a, doing fundamental research to understand the normal role of KAT6A in development and it was right at the end of my PhD, that the first patients with KAT6A syndrome were described. I was just moving over to Perth for a postdoc position, but I remember there was a lot of buzz in the lab, about ‘how can we take our current expertise and understanding of Kat6a and use it to understand the disease syndrome better?' I remember being quite excited on hearing of that idea and a little bit jealous and a little bit sad that I was leaving, just on that cusp of possible further knowledge.

I completed a two-year postdoc in Perth and I went to London for three years. While I was in London, Marnie Blewitt, a former colleague and collaborator came over for a quick 26-hour visit and I remember we were able to catch up in one of the gardens in London and she mentioned the Galli Medical Research Trust project was being formed and asked if I be interested? I don’t think she was aware, at that time, of my lingering regret at not having been able to stay around to work on Kat6a syndrome. I jumped at the opportunity. I was really excited to be able to come back to this field of chromatin disorders and neurodevelopmental disorders, the latter of which was quite new to me. The Galli Trust made this career-step back to the WEHI in Melbourne possible.

It’s really exciting to be part of a project where we get to use our basic and fundamental science skills, to answer questions on how we can offer treatments to children with neurodevelopmental disorders and to improve their ultimate quality of life.

One of the many exciting aspects of being part of this project is that the funding provided by the Lorenzo and Pamela Galli Trust allows us to pursue more challenging, more complex projects that are not possible in the lifespan of shorter funding schemes. This means we are able to plan to test more potential treatments, endure setbacks and adjust our experimental plans to follow exciting leads.

There is a great deficit in funding for researchers at my level, which is hugely disappointing given that this is a career point at which many researchers must leave the lab and pursue different career trajectories. Given that researchers at this level are at the absolute peak of their skills after training for so many years as graduate researchers, the loss of these skills is a dramatic drain on productivity in labs. I’m hugely grateful to the Galli Trust for funding this gap, to enable me to continue to work in a job that I love.

The Galli Trust has allowed me to collaborate with researchers whose skills are adjacent to and complementary with my own. I can’t express enough the value of having neuroscientists at the Murdoch Children’s Research Institute and clinician scientists from the Royal Children’s Hospital contribute to and give feedback on my work at our monthly meetings. I am also incredibly grateful for the opportunity to be a step closer to patients – both hearing about them through our clinician scientist and speech pathologists, as well as knowing that the research that I do with my skills in fundamental research, has the capacity to be realised in the clinic that much earlier through these collaborations.

What excites you about the future of this research?

The research that we’re doing in the Galli Trust-funded project is absolutely cutting-edge. The idea that intellectual disability and neurodevelopmental disorders are untreatable has been prevalent for so long and traditional funding sources have been loath to fund research that challenges this pessimistic dogma. Collectively, we have such promising results already, clearly demonstrating the value of funding this type of research to give the hope of targeted treatments and interventions to patients with these neurodevelopmental disorders and their families.

The particular class of disorders that we’re studying are mechanistically linked and lead to similar clinical presentation in patients. The interconnected nature of these disorders means that once we have tested and found promising interventions in one disorder, we can broaden our approach and see if the same treatments can benefit other patients with different disorders. Excitingly, this means that we can potentially support more children with neurodevelopmental disorders.

One of the really important things we’re thinking about when considering the treatments that we’re trialling, is that we really want to focus on either drugs or dietary supplements already known to be safe for use in children. This will really speed up the process between what we find out in the lab and what we can suggest to clinicians as a viable option.