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Institute for Molecular Bioscience Rare childhood diseases Our research seeks to answer pressing biological and medical questions using our cutting edge knowledge of louis vuitton nomade koala bracelet the genome and how it operates.
For example, our work helps to directly identify and diagnose patients with rare genetic diseases, which currently affect more than 1.5 louis vuitton bracelet save it million Australians, with at least 400,000 of these patients under the age of 15. This research is also assisting with the development of tailored therapeutics and treatments for children diagnosed with rare diseases, including leukodystrophies and Prader Willi syndrome. During the past two years, we have dramatically expanded our work in personalised medicine, and have now sequenced more than 100 families in the quest to discover the genetic causes behind rare disease mutations. Our successes include the cases of a four year old boy with a central nervous system disease that we solved by identifying a disease new to medicine; the discovery of the genetic mutation responsible for a disease called H ABC, which affects brain development in childhood; and the resolution of more than 10 additional clinical cases that were thought to be unsolvable. In parallel with this research, we are actively rethinking how the genome operates by studying the long ignored 98 per cent of our DNA louis vuitton fw 2013 bags that isn genes, which has sometimes been referred to as DNA.
Using state of the art bioinformatics and laboratory approaches, we are able to study this biological dark matter and the vast amounts of RNA it produces. Our work has resulted in a number of important findings, including louis vuitton neverfull copy the fact that genes often code layers of RNA information, which act to fine tune the human genetic machine.
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