Investigating The Molecular Signature Of ASD Through Integrative Genomics
Funder
National Health and Medical Research Council
Funding Amount
$621,128.00
Summary
Autism is the most severe end of a spectrum of neurodevelopmental conditions, autism spectrum disorders (ASD). We have identified a signature of genes dysregulated in the brain of autistic individuals. The proposed project will investigate how the molecular signature of autism is regulated in the brain, and whether genetic variants in regulatory DNA contribute to the genetic architecture of ASD.
Understanding The Neurobiology Of Autism Spectrum Disorder
Funder
National Health and Medical Research Council
Funding Amount
$1,630,739.00
Summary
Autism Spectrum Disorder (ASD) is a condition that causes difficulties with social interactions and communication, and unusual or intense behaviours. In most cases, the cause is unknown; however, there is evidence that the cause is likely genetic. We are using a new method to discover genes for ASD in families by looking at how features of ASD are inherited. Discovering genes for ASD will aid the development of new therapies and help parents of children with ASD with family planning.
Tailoring A Brief Sleep Intervention For Autism: A Randomised Controlled Trial
Funder
National Health and Medical Research Council
Funding Amount
$401,475.00
Summary
Up to 86% of children with Autism Spectrum Disorder (ASD) experience behavioural sleep problems which have been shown to be associated with increased core ASD symptoms, increased rates of internalizing and externalizing disorders, and increased parental stress. The “Sleeping Sound” study is a novel behavioural sleep intervention that has shown much promise as a treatment to reduce sleep problems and improve mental health outcomes in children with ASD.
The Role Of UPF3B And Nonsense Mediated MRNA Decay Surveillance In The Pathology Of Intellectual Disability.
Funder
National Health and Medical Research Council
Funding Amount
$789,954.00
Summary
Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundam ....Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundamental importance.Read moreRead less
Motor Functioning In Young People With Attention Deficit Hyperactivity Disorder – Combined Type: A Three-dimensional Motion Analysis Study.
Funder
National Health and Medical Research Council
Funding Amount
$477,065.00
Summary
Attention deficit hyperactivity disorder –combined type (ADHD-CT) is a complex neuropsychiatric disorder with a progressively devastating impact on psychosocial development. The first objective of this study is to use 3D-motion analysis to ‘probe’ the underlying brain dysfunction which characterises ADHD-CT. The second objective of this study is to improve our understanding of the link between movement problems, and (a) injury proneness, and (b) social-communicative problems, in children with AD ....Attention deficit hyperactivity disorder –combined type (ADHD-CT) is a complex neuropsychiatric disorder with a progressively devastating impact on psychosocial development. The first objective of this study is to use 3D-motion analysis to ‘probe’ the underlying brain dysfunction which characterises ADHD-CT. The second objective of this study is to improve our understanding of the link between movement problems, and (a) injury proneness, and (b) social-communicative problems, in children with ADHD-CT.Read moreRead less
Characterization Of A Novel Epigenetic Boundary And Long Range Epigenetic Modifications Specific To FMR1 Expansion Carriers With Behavioural And Cognitive Disorders - Implications For Earlier Diagnosis And Treatment.
Funder
National Health and Medical Research Council
Funding Amount
$670,836.00
Summary
Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and autism and is caused by a faulty switch in the gene FMR1. We have discovered new DNA regions important in FXS. The project aims to explain how these new regions regulate the FMR1 gene. This is essential for the discovery and validation of new avenues for earlier diagnosis, treatments and therapies for children and adults with FMR1 disorders and also for informing reproductive decisions.