Birth defects can have devastating consequences for individuals and their families, and improving our ability to diagnose and screen for these disorders has implications for treatment and reproductive options. We are using the mouse as a model to discover genes important in a new class of birth defects caused by dysfunction of a hair-like cellular projection known as the cilium.
The Lililwan Project: Prevalence Of Fetal Alcohol Spectrum Disorders In The Fitzroy Valley
Funder
National Health and Medical Research Council
Funding Amount
$777,758.00
Summary
Alcohol use in pregnancy is widespread in Australia. Alchohol may cause physical and developmental problems in the developing child including the Fetal Alcohol Spectrum Disorders (FASD). This collaborative project, initiated and led by Aboriginal leaders in the Fitzroy Valley in the remote East Kimberley, WA, will establish the prevalence of FASD, health and developmental problems in a population of primary school-aged, predominantly Aboriginal children and develop strategies for service deliver ....Alcohol use in pregnancy is widespread in Australia. Alchohol may cause physical and developmental problems in the developing child including the Fetal Alcohol Spectrum Disorders (FASD). This collaborative project, initiated and led by Aboriginal leaders in the Fitzroy Valley in the remote East Kimberley, WA, will establish the prevalence of FASD, health and developmental problems in a population of primary school-aged, predominantly Aboriginal children and develop strategies for service delivery, prevention and education.Read moreRead less
Understanding The Role Of SSB1 In Embryonic Development And Genome Maintenance
Funder
National Health and Medical Research Council
Funding Amount
$620,716.00
Summary
Normally DNA exists as a double helix where two strands are zipped together. When single-stranded (ss) DNA is exposed during various cellular processes it can be easily damaged and degraded by cellular enzymes, but is protected by ssDNA binding proteins (SSBs). We have identified two new SSBs (SSB1 and SSB2) that play a crucial role in DNA repair and will investigate the role and physiological function of these important proteins.
Understanding Human Dysmorphology Through Analysis Of ENU Mutant Mice
Funder
National Health and Medical Research Council
Funding Amount
$602,501.00
Summary
Birth defects are common and have an enormous impact on both the individual and their family. Birth defects are by definition the products of abnormal development of the embryo. Our research is aimed at identifying the normal mechanisms that usually prevail during development and the disturbances to those mechanisms that result in birth defects. These findings will lead to improved diagnostic, therapeutic and preventative options for families affected by birth defects
Rapid Identification And Characterisation Of Genes Involved In Skeletal Development
Funder
National Health and Medical Research Council
Funding Amount
$550,536.00
Summary
Birth defects are common and have an enormous impact on both the individual and their family. Birth defects are by definition the products of abnormal development of the embryo. Our research is aimed at identifying the normal mechanisms that usually prevail during development and the disturbances to those mechanisms that result in birth defects. These findings will lead to improved diagnostic, therapeutic and preventative options for families affected by birth defects
Professor Elizabeth Elliott AM is an international leader in rare disease research, as Director of the Australian Paediatric Surveillance Unit and investigator on The Lililwan project in Fitzroy Valley's remote Aboriginal communities, WA. This will establish prevalence of Fetal Alcohol Spectrum Disorders (FASD); diagnose and manage affected children and support their carers; and provide data to inform service needs for FASD and prevention policy for alcohol use pregnancy.