Dr Melanie Porter | Senior Lecturer, Psychology

How long have you been a researcher at Macquarie?
Too long! J I started as a Psychology undergraduate student in 1995 and basically never left. After completing honours in Psychology in 1999, I went on to do a combined Masters/PhD 2000-2004. I was then offered a postdoc in 2005 in Cognitive Science and then a lecturing position in Psychology in 2008. I have been studying Williams syndrome (WS) and other neurodevelopmental disorders for almost 15 years.

My PhD and postdoctoral research was on WS. Other neurodevelopmental disorders I have studied include autism, Asperger’s syndrome, Fragile X syndrome, Down syndrome and Neurofibromatosis Type 1. I have also researched acquired brain injury in children (e.g. stroke, traumatic brain injury, the effects of liver transplant on neuropsychological outcome).

I have supervised a total of six PhD students, three clinical doctorate students, 17 Masters students and five honours students since 2008 on topics of paediatric neuropsychology and neuropsychological intervention.

I was drawn to research because…
I just love it! I love analytical thinking, ‘detective’ work of putting all the pieces together, and most importantly translational research where my research can hopefully make a difference to the lives of others.

What would be an ‘elevator pitch’ of your research area?
My two main areas of research are paediatric neuropsychology, which covers neurodevelopmental disorders (e.g. WS, autism and down syndrome) and acquired brain injury (e.g. child stroke, traumatic brain injury) and I am developing a new program of research at Macquarie in Neuropsychological Rehabilitation and Intervention to develop and scientifically evaluate cutting edge techniques to improve the daily lives of both children and adults affected by neurological conditions, this includes neurodevelopmental disorders and acquired brain injuries.

My research into neurodevelopmental disorders includes neuropsychological profiling and assessing relationships between genes, brains and cognition.

WS is my main ‘baby’ and very close to my heart. I am currently leading a multi-disciplinary international program of research that investigates the genetic, neurological and neuropsychological aspects of the condition. I was fortunate to have received funding from WS Australia Ltd 2013-2015 to continue this work.

Our latest WS research also includes looking at neurobiological aspects of WS, in particular the role of oxytocin in conjunction with functional brain imaging and extensive social testing to better understand the mechanisms behind the unusual and striking hypersocial personality of individuals with WS and their extreme social trust.

My latest move is cross-syndrome comparisons.

In layman’s terms, what is the wider impact of your research?
WS provides a unique opportunity to study the role of individual genes on brain development, personality, psychological, motor and cognitive functioning. The biggest impact of my work has been to discover how genes can affect brain development and cognition. Our approach using WS can be applied to any disorder leading to many new discoveries.

Our research highlights the necessity to go beyond group averages and explore individual differences and investigate why these differences exist. There may be a genetic or environmental cause.

In doing so, we have re-defined WS and highlighted the need for comprehensive genotyping in the disorder.

Who is/was your biggest research mentor?
I have a few! Professor Max Coltheart, Professor Helen Tager-Flusberg and Professor Schofield have all taught me different things, but each has left their imprint on me personally and in the way I practice research. Max taught me the art of simplicity, Helen gave me encouragement when I was really swimming against the stream (mainstream research in the field of WS that is!) and Professor Schofield provided me with a white lab coat to kick start the genetics work and oh so much more!

If I were given $1Million in research funding, the first thing I would do is…
Pay my clinical research participants – they so deserve money for their time! Hold regular conferences for families to provide them with up to date medical and clinical advice and information on our latest research findings. Set up a neuropsychological intervention clinic. There I could continue my research into neurodevelopmental disorders and acquired brain injury across the lifespan, focusing more on the daily impact of these conditions and working out ways to maximise recreational and vocational outcomes.

In ten years I see my research…
Moving much more into the translation of research findings into intervention and clinical practice and changing the daily lives of others. Including evidence based, syndrome-specific psychological interventions, academic interventions, cognitive interventions and social interventions.

My favourite and/or most proud research moment was when…
I have had the privilege and opportunity to stay in the homes of numerous families with WS over the years. WS is a rare disorder, so I have travelled, not only Australia wide, but in some instances world-wide to see WS families for my research. They have been so accommodating and I have learned a lot about life values from the families. Even those I do not stay with, but just visit have always been so welcoming and hospitable. One family would make me a full lunch, home baked cake and a cappuccino every time I would visit them and that was at least six times across the span of about four years.

My most proud moments:

When I read the words of two of my mentors:
“ I read Dr. Porter’s paper with great interest, as I have all her prior work, particularly since I have been conducting research on WS for over 20 years. In my view Dr. Porter’s work is at the cutting edge of research in the area. Her innovative approach to studying WS has led to an important discovery showing separate genotypes and associated phenotypes within what was thought to be a universal syndrome. Her finding is of great importance and will change the way that WS is perceived both clinically and from a research perspective.”
(Professor Helen Tager-Flusberg)

“Melanie first made contact with me in the early 2000’s when, as a PhD student, she realised that her skills in the neuropsychology of WS would require collaboration with genetics researchers in order to understand the molecular basis of intellectual disability through the correlation of cognitive and genetic heterogeneity of WS. This level of multidisciplinary awareness is unusual in a PhD student and, at the time, was even more unusual in the psychological research community.”
(Professor Peter Schofield)

When I was awarded funds by WS Australia Ltd, voted by families. It is fabulous to be awarded grants from scientific/academic grant bodies, but to have families say yes this work is worthwhile means my dream is starting to come true – the dream of having research outcomes that are meaningful to families and translate into real world outcomes. My research has also been awarded by Australian Rotary health, similarly a community grant body looking for research that can make a difference to the community.

Also along these lines asked to present at the WS camp in Auckland in January next year.

My research is inch by inch. Sometimes from idea to fruition has taken as long as 12 years. I was proud when our paper was finally published in 2012 showing a role of a specific gene GTF2IRD2 (within the WS critical region) on cognitive (executive) functioning and brain development.

Learn more about Williams syndrome at the national conference held on campus this Friday, 19 September.