Fainting (syncope) is a common disorder leading to blackouts, which can cause injury. Breath-holding is a related problem in younger children also resulting in blackouts. Both of these conditions can run in families but little is known about what causes these events. We will study large families to identify the genes underlying these common phenomena. This will deepen our understanding of patterns of inheritance, improve genetic counseling, and lead to better diagnostic and treatment options.
Identifying Mitochondrial Genome Variants Associated With Familial Migraine Susceptibility
Funder
National Health and Medical Research Council
Funding Amount
$443,273.00
Summary
New therapeutic targets for migraine are desperately needed. Although studies have identified some migraine genes there remains considerable underlying genetic variation to be characterised. This study aims to identify functional variants in the mitochondrial genome that contribute to migraine susceptibility, utilising the isolated Norfolk Island population. Outcomes will determine the significance of the variants identified, potentially leading to new diagnostics.
Identifying Novel Gene Mutations For Molecular Diagnosis Of Familial Hemiplegic Migraine
Funder
National Health and Medical Research Council
Funding Amount
$623,460.00
Summary
This proposal aims to identify novel FHM genes by undertaking an NGS screen of the whole exome of 209 FHM patient samples. We will test the pathological relevance of detected novel mutations by functional analysis in human cell models and using patient-specific stem cell techniques. Using whole genome NGS technology to identify novel mutations will assist in the design and development of a comprehensive NGS approach to diagnose and differentiate this severe neurological disorder.
Nemaline myopathy is a neuromuscular condition characterised by muscle weakness, low muscle tone and the finding of nemaline bodies or rods on muscle biopsy. This study encompasses a natural history study of nemaline myopathy, genetic diagnosis and gene discovery using new methods of genetic testing, characterisation of a new disease gene for this condition, and reviewing patient experience with tyrosine, a medication commonly used in patients with nemaline myopathy.
Massive Parallel Sequencing In The Genetics Of Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$451,716.00
Summary
Epilepsy is a serious disorder which affects approximately 2% of the population at some stage in their life and around 30% of patients do not gain adequate control of their seizures with medications presently available. Approximately 70% of epilepsy in inherited and so far the majority of the genetic causes are yet to be discovered. My group aims to identify new epilepsy genes. This leads to improved diagnosis, treatment and counseling for patients and increased understanding of the biological m ....Epilepsy is a serious disorder which affects approximately 2% of the population at some stage in their life and around 30% of patients do not gain adequate control of their seizures with medications presently available. Approximately 70% of epilepsy in inherited and so far the majority of the genetic causes are yet to be discovered. My group aims to identify new epilepsy genes. This leads to improved diagnosis, treatment and counseling for patients and increased understanding of the biological mechanisms underlying seizures.Read moreRead less
Elucidating the molecular mechanisms underlying migraine and endometriosis via genetic dissection. The research aims to identify genetic variants underlying migraine and endometriosis susceptibility. Advances in the genetics of these common and painful disorders, including identification of genetic biomarkers (genetic variations that can predict disease susceptibility, disease outcome, or treatment response), will offer better rationales for scientific enquiry, helping the discovery of new treat ....Elucidating the molecular mechanisms underlying migraine and endometriosis via genetic dissection. The research aims to identify genetic variants underlying migraine and endometriosis susceptibility. Advances in the genetics of these common and painful disorders, including identification of genetic biomarkers (genetic variations that can predict disease susceptibility, disease outcome, or treatment response), will offer better rationales for scientific enquiry, helping the discovery of new treatment pathways and improve predictions of drug efficacy and safety. Thus providing improved treatment strategies for the individual sufferer and reduce the direct medical and indirect economic costs to individual sufferers as well as to the general community.Read moreRead less
Functional Genomics-new Technologies For Gene Discovery And Personalised Medicine
Funder
National Health and Medical Research Council
Funding Amount
$452,122.00
Summary
Disorders of the brain, which affect people of all ages, are one of the largest health, economic and social burdens in the developed world. These conditions are chronic, debilitating and have limited symptomatic treatments available. In general, very little is known about the causes of many brain disorders. This project aims to identify the genes and mechanisms that underlie these diseases to enable the development of diagnostic and treatment programs to help reduce the incidence and severity of ....Disorders of the brain, which affect people of all ages, are one of the largest health, economic and social burdens in the developed world. These conditions are chronic, debilitating and have limited symptomatic treatments available. In general, very little is known about the causes of many brain disorders. This project aims to identify the genes and mechanisms that underlie these diseases to enable the development of diagnostic and treatment programs to help reduce the incidence and severity of disease.Read moreRead less
Developing methods for the analysis of massively parallel sequencing data in family studies. This project will develop analytical methods to use the latest, high-throughput method of generating sequencing data, i.e. the letters of the human genome alphabet. These tools will be used to identify the causal mutations in families with inherited disorders, leading to diagnostic tests for these families.