Characterisation Of Eurl, A Novel Gene Implicated In The Etiology Of Abnormal Brain Development And Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$597,541.00
Summary
Intellectual disability affects around one per cent of Australians, and can arise from genetic abnormalities during fetal life, such as through abnormal regulation of gene expression. We have identified a novel gene, known as eurl, which controls brain assembly as well as the ability of neurons to form functional connections within the brain. We will investigate how this novel gene controls brain development, and characterise eurl as a potential therapeutic target for learning and memory.
The Role Of Rnd Genes During Cortical Neurogenesis And Cell Migration
Funder
National Health and Medical Research Council
Funding Amount
$410,384.00
Summary
In order for the brain to function properly, tens of billions of neurons within it first have to be born, then find their proper location before connecting with other neurons in a highly ordered fashion. Failure of these key processes heavily impacts on subsequent brain function, and have been shown to underlie several disorders including epilepsy. This study will investigate how members of the Rnd gene family control cell production and positioning within the developing brain.
Centre For Research Excellence In Speech And Language Neurobiology (CRE-SLANG)
Funder
National Health and Medical Research Council
Funding Amount
$2,491,340.00
Summary
Half a million Australian children have a speech/language disorder, tripling their changes of poor academic outcomes, limited employment options and social isolation. Current speech therapy is limited, focusing on symptoms and ignoring evidence on underlying aetiologies. By identifying and translating findings on new genes and brain pathways leading to speech and language disorders, we will transform detection, diagnosis, prognosis and genetic counselling of affected children and their families.
Neurobiology Of Childhood Speech Disorders: Improving Detection, Diagnosis And Clinical Care
Funder
National Health and Medical Research Council
Funding Amount
$994,575.00
Summary
One in 20 children have a speech disorder at school entry, with lifelong deficits in psychosocial, academic and employment outcomes. Little is known about the aetiology of speech disorders, preventing targeted care. We combine expertise in speech pathology, gene discovery and brain imaging, to advance knowledge on gene and brain contributions to speech disorder. We will have direct impacts on clinical care including detection, diagnosis and counselling, optimising outcomes for affected children.
Mechanisms Guiding Pathfinding And Positioning Of Cortical Interneurons
Funder
National Health and Medical Research Council
Funding Amount
$621,606.00
Summary
Brain disorders place an economic and social burden on Australia and the personal costs of these illnesses are immeasurable. Several brain abnormalities are caused from the failure of neurons to position themselves in the correct location when the brain develops. Our study aims to discover how neurons move and what factors influence this process. It provides an understanding of normal brain development, as well as providing insight into what may go wrong in the formation of brain diseases.
Prevalence report by the Australian Advisory Board on Autism Spectrum Disorders (ASD) estimated that 1 child in every 160 children in the 6-12 year-old age group is affected by ASD. There is no cure for ASD and the causes are not understood. We propose that sex hormones may play a role in the development of these disorders. We will test this hypothesis using knockout and transgenic mouse models which have social interaction deficits and brain structure reminiscent of these disorders.
Cellular Modelling Of Attention Deficit Hyperactivity Disorder (ADHD) Risk Genes
Funder
National Health and Medical Research Council
Funding Amount
$753,746.00
Summary
Attention deficit hyperactivity disorder is a prevalent behavioural disorder affecting 7.4% of Australian children and adolescents. It has a strong genetic component with high heritability estimates (75–90%) comparable to other serious mental illness such as autism and schizophrenia. Identification and functional characterization of the genetic causes of this disorder will enhance our knowledge of its neurobiology and revolutionise the drug treatment of the disorder.
Why Does Early Life Stress Aggravate Limbic Epileptogenesis?
Funder
National Health and Medical Research Council
Funding Amount
$540,116.00
Summary
High rates of anxiety and depression occur in individuals with temporal lobe epilepsy (TLE), the most common form of focal epilepsy in adults. Rats that have experienced early life stress show increased anxiety, decreased seizure thresholds and accelerated epilepsy as adults. We have important leads to mechanisms. The proposed study will better understand the mechanisms connecting early life stress and psychiatric disease to adult TLE, and to test interventions that may counteract these effects.
Quantifying The Role Of Epigenetic Factors In Neurocognitive Outcomes: A Twin Study
Funder
National Health and Medical Research Council
Funding Amount
$1,516,790.00
Summary
We aim to identify the environmental factors in early life that contribute towards an individual brain development using MRI brain scans and related psychological skills measured in late childhood. We are using twins to better understand differences in their early life environments independent of genetics.
Genetic And Functional Analysis Of Brain Malformations
Funder
National Health and Medical Research Council
Funding Amount
$105,327.00
Summary
Disorders of early brain development are recognised as a significant cause of illness and disability in children. Unfortunately, the causes of these conditions are poorly understood, and treatment options are limited. It has become apparent that many of these conditions have an underlying genetic basis. This project will identify genes that regulate brain development and aid the development of improved treatment programs for brain and mind disorders.