Sensory Neuronal Pathways From The Lower Genital Tract Of Females
Funder
National Health and Medical Research Council
Funding Amount
$397,224.00
Summary
Many women experience severe debilitating pain upon normally innocuous contact with their genitalia. The causes of this pain are unknown. Therefore, this project will use a suite of sophisticated microscopic and electrical recording techniques to identify the neural pathways that transmit sensation, including pain, from the female lower genital tract. Our new data will help create a rational basis for understanding and treating the physical basis of genital pain in women.
Functional Characterisation Of Pendrin: The Anion Transporter Causing Pendred Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$211,527.00
Summary
Mutations in the human pendrin protein cause progressive hearing loss from an early age in Pendred syndrome. Using techniques of molecular and cellular biology, we intend to test the effects of Pendred-causing mutations on the function of pendrin expressed in frog and cultured mammalian cells. Our approach will enable us to determine how pendrin functions in both the normal and diseased states, which is currently unknown. This will allow us to consider ways of correcting the ion channel defect a ....Mutations in the human pendrin protein cause progressive hearing loss from an early age in Pendred syndrome. Using techniques of molecular and cellular biology, we intend to test the effects of Pendred-causing mutations on the function of pendrin expressed in frog and cultured mammalian cells. Our approach will enable us to determine how pendrin functions in both the normal and diseased states, which is currently unknown. This will allow us to consider ways of correcting the ion channel defect associated with the Pendred syndrome.Read moreRead less
Cloning And Characterisation Of A Bipolar Disorder Susceptibility Gene On Chromosome 15q
Funder
National Health and Medical Research Council
Funding Amount
$347,621.00
Summary
Bipolar disorder is a severe mood disorder, characterised by aberrant mood swings resulting in periods of mania and depression. We need to define more clearly the biological basis of bipolar disorder to improve diagnosis and treatment. Bipolar disorder is highly heritabile allowing the use of genetics to identify the predisposing genes. Our aim is to identify a bipolar susceptibility gene on chromosome 15 and to understand how this gene contributes to the risk of developing bipolar disorder.
Neurocognitive Studies Of Brain Plasticity Associated With Surgical Treatment Of Arteriovenous Malformations
Funder
National Health and Medical Research Council
Funding Amount
$701,922.00
Summary
We will use state-of-the-art brain imaging methods to test whether specific brain areas which have been chronically starved of adequate blood supply can regenerate, informing debate about limits on brain plasticity. Arteriovenous malformations (AVMs) are longstanding defects which can cause thinking skills to 'migrate' to other brain regions in childhood without noticeable impact. Surgical correction allows a test of what happens to the previously inactive area: Does the area 'start to think'?
Gastrointestinal Sensory Function In Normal And Diseased States
Funder
National Health and Medical Research Council
Funding Amount
$691,026.00
Summary
Chronic pain and discomfort from the digestive system is a major health care issue world-wide. There is currently no effective treatment for these problems, which often have no apparent organic cause. Lack of treatment is due to a lack of understanding about how sensations are transmitted from the digestive system to the brain. Our research group has unique and powerful techniques that allow us to probe the basic mechanisms of sensory function, and make rapid progress towards finding drugs that ....Chronic pain and discomfort from the digestive system is a major health care issue world-wide. There is currently no effective treatment for these problems, which often have no apparent organic cause. Lack of treatment is due to a lack of understanding about how sensations are transmitted from the digestive system to the brain. Our research group has unique and powerful techniques that allow us to probe the basic mechanisms of sensory function, and make rapid progress towards finding drugs that reduce specific types of sensory signals from the gut. We shall investigate sensory mechanisms in the upper and lower regions of the gut, where symptoms are most prevalent in diseases such as non-cardiac chest pain, functional dyspepsia and irritable bowel syndrome. Six aspects of sensory nerve endings in the gut are to be investigated: 1. The grouping of endings into functional classes (similar to touch or pressure receptors in skin) 2. How endings respond to chemicals and hormones found in the gut 3. How currently available drugs may be useful in reducing sensitivity 4. The mechanisms by which inflammation affects sensitivity 5. How nerve growth factors may trigger changes in sensitivity 6. How pores or channels in nerve endings determine their functionRead moreRead less
Roles Of The Peptide Hormone, Ghrelin, In The Spinal Cord
Funder
National Health and Medical Research Council
Funding Amount
$414,326.00
Summary
This study investigates the control of internal organs of the body, the heart, blood vessels, intestine and bladder. We have made the new and surprising discovery that ghrelin, previously known to be a hormone, is probably also a neurotransmitter in the spinal cord. This raises the possibility that drugs that act on ghrelin receptors in the spinal cord could be used to treat high blood pressure or other problems of internal organs.
Functional Evaluation Of BRCA1 & BRCA2 Unclassified Sequence Variants And Identification Of Critical Pathogenic Domains.
Funder
National Health and Medical Research Council
Funding Amount
$331,312.00
Summary
The major genes that predispose to hereditary breast cancer are called BRCA1 and BRCA2. Most mutations in these genes cause the protein product to be truncated and inactive. However there are many families in which such truncating mutations are not found, but instead there are sequence changes that slightly alter the protein product. It is often difficult to predict whether these sequence variants are likely to cause hereditary breast cancer simply by looking at the position and nature of the se ....The major genes that predispose to hereditary breast cancer are called BRCA1 and BRCA2. Most mutations in these genes cause the protein product to be truncated and inactive. However there are many families in which such truncating mutations are not found, but instead there are sequence changes that slightly alter the protein product. It is often difficult to predict whether these sequence variants are likely to cause hereditary breast cancer simply by looking at the position and nature of the sequence change. Consequently, it is not possible to offer informative genetic counselling to these women or their at-risk family members. Assessment of the potential pathogenicity and functional significance of these unclassified sequence variants will be directly useful with regard to the clinical management of these women and their families, and will develop our current understanding of how different domains of these genes contribute to their role as cancer susceptibility genes.Read moreRead less
What Drives Abnormal Cerebral Activity In Secondary Generalised Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$565,809.00
Summary
Secondary Generalised epilepsy (2GE) is a severe, disabling epilepsy syndrome characterised by childhood onset frequent, treatment resistant seizures and developmental delay. Although one of the four major categories of epilepsy, it is poorly understood. This project uses combined EEG (brainwave testing) and MRI to reveal which brain areas are involved in the epileptic activity of 2GE. Advanced analysis techniques will explore which brain regions initiate 2GE epileptic activity.