Positional Candidate Targets For Multiple Ovulation Genes
Funder
National Health and Medical Research Council
Funding Amount
$272,036.00
Summary
The frequency of non-identical twins is associated with fertility in individuals and populations, although we know little about mechanisms for twinning or effects on fertility. The likelihood for giving birth to non-identical twins is influenced by genetic factors. The probability of a subsequent twin pregnancy is increased fourfold in mothers of twins and roughly doubled for women whose mother or sister has had non-identical twins. Understanding why some women are more likely to have twins will ....The frequency of non-identical twins is associated with fertility in individuals and populations, although we know little about mechanisms for twinning or effects on fertility. The likelihood for giving birth to non-identical twins is influenced by genetic factors. The probability of a subsequent twin pregnancy is increased fourfold in mothers of twins and roughly doubled for women whose mother or sister has had non-identical twins. Understanding why some women are more likely to have twins will help us find key pathways that control normal ovarian function and important factors that influence success in assisted reproduction. The aim of this project is to search for these genes in families with two sisters who have given birth to non-identical twins. Previous studies have identified one strong target region and two possible regions containing genes for increased twinning. We now have additional families and will examine each region in more detail. We will also look for genes within each region that could be responsible for variation in twin frequency.Read moreRead less
Molecular Genetic Characterisation Of A Novel X-linked Skeletal Myopathy
Funder
National Health and Medical Research Council
Funding Amount
$158,104.00
Summary
This project aims to identify the genetic basis of a new disease that is characterised by episodes of muscular weakness. This disease only affects males. The signficance of the project is that this is the first description of such a disorder and gives us an opportunity to study a previously unsuspected aspect of human muscle function.
Genetic And Phenotype Studies Of Partial Epilepsy In Gypsies
Funder
National Health and Medical Research Council
Funding Amount
$646,136.00
Summary
Epilepsy is one of the most common serious neurological disorders, which affects more than 50 million people worldwide. Genetic research, with a major contribution from Australian researchers, has led to the discovery of many rare forms of the disease caused by mutations in single genes of large effect. However, the vast majority of cases worldwide belong to the so-called genetically complex forms, involving multiple interacting genes and environmental factors. The genetically complex epilepsies ....Epilepsy is one of the most common serious neurological disorders, which affects more than 50 million people worldwide. Genetic research, with a major contribution from Australian researchers, has led to the discovery of many rare forms of the disease caused by mutations in single genes of large effect. However, the vast majority of cases worldwide belong to the so-called genetically complex forms, involving multiple interacting genes and environmental factors. The genetically complex epilepsies have proved particularly difficult to understand and the numerous genetic studies conducted so far have failed to produce important and replicable results. It is becoming increasingly clear that enormous genetic heterogeneity, with many rare mutations occurring in different affected subjects, will be a major obstacle to understanding the molecular basis of complex epilepsies. In this context, genetically isolated populations, which stem from a small number of ancestors, can be particularly helpful and revealing, since their limited genetic diversity means that the number of genes involved in causing complex epilepsies may be smaller and shared between individuals and families. In this study, we will analyze affected families, as well as non-familial cases of epilepsy, from a genetically isolated population - the European Roma-Gypsies. We will determine the number of potential susceptibility genes involved in familial forms, the overlap and differences between families, as well as the contribution of the genes identified in families to the development of sporadic epilepsy.Read moreRead less