Identification And Characterisation Of Novel Genes For Congenital Cataract
Funder
National Health and Medical Research Council
Funding Amount
$432,750.00
Summary
Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Au ....Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Australia over the past 5 years to determine the causative genes. A large number of families have been involved in the study and solid progress has been made in identifying mutations in cataract genes and understanding what effect these may have on the patient's prognosis. We have recently identified a new gene in a large Australian family with a syndrome of cataract, mental retardation and teeth problems. This syndrome, known as Nance-Horan syndrome was originally described in Australia 30 years ago and we have worked with the original family to find the exact gene responsible. We already know that this gene causes the same syndrome in other families and in this project we will examine whether it can cause cataract without the other features or mental retardation without cataract. We will perform a series of experiments to learn what this gene does and how it causes the disease. We have also selected 3 other very interesting families with congenital cataracts for further study as we either know already or strongly suspect that they will enable us to identify further new genes for cataract, and in one case mental retardation. Our work in other diseases indicates that understanding the genes in severe young onset cases can give valuable clues to the causes of age-related forms and may in the future enable new ways to prevent and treat the commonest cause of worldwide blindness.Read moreRead less
Probing the Tasmanian Devil Serum Proteome for Preclinical Diagnosis of Devil Facial Tumour Disease. The Tasmanian Devil (Sarcophilus harrisii) is a carnivorous marsupial endemic to the island state of Tasmania, and is found all over the state. Over the past decade, a dramatic decline has occurred in the Devil population in association with the emergence of Devil Facial Tumour Disease (DFTD). This project aims to develop a preclinical diagnostic test for DFTD that will provide vital information ....Probing the Tasmanian Devil Serum Proteome for Preclinical Diagnosis of Devil Facial Tumour Disease. The Tasmanian Devil (Sarcophilus harrisii) is a carnivorous marsupial endemic to the island state of Tasmania, and is found all over the state. Over the past decade, a dramatic decline has occurred in the Devil population in association with the emergence of Devil Facial Tumour Disease (DFTD). This project aims to develop a preclinical diagnostic test for DFTD that will provide vital information for use in developing management strategies to ensure the ongoing survival of the Tasmanian Devil. The benefit to Australia in performing this research rests in the new technology that will be developed and the application of this technology to key areas of national and international significance.Read moreRead less