Maria Bergamasco

Can you tell us about your research?

"My area of research focusses on a particular congenital disorder known as Say-Barber-Biesecker-Young-Simpson syndrome that occurs due to mutations in a gene known as Kat6B.

"I have studied this gene throughout my undergraduate degree and my Ph.D., mainly trying to understand the role of KAT6B during brain development and how this role goes awry and causes intellectual disability.

"In the context of the Lorenzo and Pamela Galli Medical Research Trust project, I’ve been able to broaden this research and have begun assessing some of the behavioural deficits in our animal model of Say-Barber-Biesecker-Young-Simpson-Syndrome.

"We have seen patterns emerge such as learning and memory problems and sociability difficulties and these give us insights to start to test the efficacy of potential treatments.

"For each individual compound that we’re wanting to assess, it takes approximately six months to determine whether we actually do see an effect and if can we validate that molecularly.

"Asking yourself questions constantly is important in medical research: Do we see differences within certain tissues and within certain gene expressions to determine that the compound we’re using is having the changes we expected it to have? While progress is gradual, incremental knowledge and small discoveries fill in the picture."

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

"It is really thanks to the Galli Medical Research Trust that this research and my involvement in this research has been able to occur at all.

"The collaborative aspects of the trust have provided fantastic opportunities to share my results in an ongoing manner and gain feedback and support from other researchers in the precinct.

"The funds provided by the trust have allowed us to explore this avenue of therapeutic intervention using our models and provide some really exciting data that has not only great academic value but will, hopefully, be incredibly helpful to Say-Barber-Biesecker-Young-Simpson patients and their families."

What excites you about the future of this research?

"The most exciting aspect about this avenue of research, for me, is the patient connection. Ultimately, we want to see whether it is possible to postnatally treat patients with intellectual disability.

"It has been the dogma for so long that intellectual disability is untreatable and cannot be improved or ameliorated and what we are seeing, is that that is simply not true. To be able to give a patient and their family the tools and information that will improve their quality of life is an incredible feeling and one that motivates me to continue doing this work."