The 12th annual Autism Spectrum Disorder Research Forum will once again provide a fantastic opportunity to hear about the latest ASD research being undertaken by local research teams, including that being completed by undergraduate and postgraduate students. We are pleased to welcome Dr Sander Begeer, Postdoctoral Research Fellow at University of Sydney, and an Endeavour Award Research Fellow since 2011, as our keynote speaker. His research focus is on autism, empathy and social emotional development.

The forum is suitable for all Autism Spectrum Disorder researchers, including students, clinicians and educators, as well as parents interested in Victorian research on Autism Spectrum Disorder. Please note that the forum will focus on research matters, and participants should have a reasonable knowledge of Autism Spectrum Disorder and research methodology. More here.

CHILD is an acronym for Children, Health, Intervention, Learning and Development. Our primary research focus is on interventions, participation, learning, health and everyday functioning in children with special needs, but also in typically developing children.

We study factors that influence development, learning and health in children. A further purpose is to develop and test research methods for studying complex phenomena such as health and learning. The research is conducted in collaboration between the fields of education, special education, health psychology, health care sciences and disability studies. We study processes and effects from a multi-dimensional perspective letting different perspectives meet, contrast and be enriched by each other. In all the research profile connects about 40 professors, senior researchers and doctoral students.

CHILD is associated with the Swedish Institute for Disability Research (SIDR), a leading European research programme in disability, which is a cooperation between the universities of Jönköping, Linköping and Örebro. CHILD also has extensive international collaboration, coordinating and participating in a number of EU and international projects. Research is conducted as a part of an active international network that mainly includes Europe, North America and South Africa.

Read more here.

CAMBRIDGE, Mass. – Whitehead Institute researchers have redefined the function of a gene whose mutation causes Rett syndrome, a neurodevelopmental autism spectrum disorder.  This new research offers an improved understanding of the defects found in the neurons of Rett syndrome patients and could lead to novel therapies for the disease. 

'The action of the MECP2 protein is just the opposite of how it was held for the past 15 years,' says Whitehead Founding Member Rudolf Jaenisch, who is also a professor of biology at MIT. 'It was thought that this protein globally repressed the expression of methylated DNA. What this work shows is when you do the analysis in a way that takes cell size into account—cell size is very different in Rett neurons compared to wild type—then suddenly we can see that the protein acts like a global activator. We've defined the function of MECP2 in a totally different way.'

Rett syndrome is an X-linked genetic disease affecting one in 10,000 newborn girls. Infants with the disease appear to develop normally for their first six to 18 months, at which point their movement and language skills begin to deteriorate. Loss of speech, reduced head size, breathing and heart rhythm irregularities, and autistic-like symptoms are common by age four. Some symptoms may be treated with prescription drugs, but no cure or disease-modifying therapy exists.

Previous work by the Jaenisch lab has provided some hope for the families of Rett patients. In a mouse model lacking the MECP2 gene, which is mutated in approximately 95% of girls with Rett syndrome, mice injected with the protein IGF-1 had more regular breathing and heart rhythms than did untreated mice. In addition, the brains of treated mice had greater mass and more of the vital neuronal projections that are missing in Rett syndrome mice and human patients. 

In the current research, Yun Li, a postdoctoral researcher in the Jaenisch lab, analyzed the global gene expression of MECP2-deficient neurons derived from human embryonic stem cells. Unlike earlier research, Li took into account the Rett neurons' smaller size when comparing their gene expression to neurons with intact MECP2. The Rett neurons had decreased mRNA transcription, reduced protein synthesis, and severe defects in the AKT/mTOR signaling pathway, which is activated by IGF-1. Li's work is published in the October 2nd [2013] issue of Cell Stem Cell. 

The full article is here.