Category: News & Articles
... Rare Disease Day on 28 February raises awareness of the 7,000 rare diseases and brings the rare disease community together. Image: ... NSW Genetics of Learning Disability service and is involved in the genetic diagnosis of children with moderate to severe intellectual disability (ID). Following advanced genetic testing, 50–70% of her patients remain undiagnosed, and there ...
Category: News & Articles
... lead a new $2.1m project to develop targeted treatments for the rare genetic and life-threatening disease cystic fibrosis, which damages the ... lead a new $2.1m project to develop targeted treatments for the rare genetic and life-threatening disease cystic fibrosis, which damages the ... funding through the Federal Government’s 2021 Rare Cancers, Rare Diseases and Unmet Need grant program, the collaborative research ...
Category: Research
Genetic testing is an increasingly popular method of detecting disease risk at an early stage. Indeed, many diseases are now considered to have a genetic basis, or a biomarker, that can inform doctors about who to ...
Category: General
... HMRI and the Priority Research Centre GrowUpWell host the HMRI Rare Diseases Public Seminar, Tuesday 28 February. Living with a rare ... management of range of rare disorders. Research areas include: rare genetic diseases, and inherited forms of intellectual disability for which the genetic basis remains unknown; developmental disability (such ...
Category: Research
... Pulmonary Disease (COPD) are the two major chronic respiratory diseases in Australia, with the incidence of asthma among the highest in ... are associated with the development and progression of respiratory diseases, such as asthma and COPD. Chronic diseases of the airways ... In the same way that cancer treatment can be targeted to the specific genetic or molecular factors behind the development of the tumour, ...
Category: News & Articles
In what is akin to finding a needle in a haystack, a genetic discovery has helped medical researchers in Newcastle take a ... for stroke. In what is akin to finding a needle in a haystack, a genetic discovery has helped medical researchers in Newcastle take a ... lifestyle.” Professor Levi said the field of genetics in complex diseases like stroke was relatively new. Now, the research team aims to ...
Category: News & Articles
Spyware employed by counter-terrorism experts is helping to find genetic answers for kids with undiagnosed intellectual disabilities. ... by police and counter-terrorism agencies is now helping to find genetic answers for kids with undiagnosed intellectual disabilities. ... similar distinguishing features. But given there are over 7000 rare diseases, and many more unknown, it is a huge task with a success rate ...
Category: News & Articles
HMRI genetic statistician Dr Elizabeth Holliday has received a prestigious ... research work in determining the causes of ischaemic stroke. HMRI genetic statistician Dr Elizabeth Holliday has received a prestigious ... when they come into hospital. In terms of the genetics of complex diseases, we are further behind many other disorders that have now ...
Category: Researcher Profiles
... bowel and breast cancer. By studying the molecular basis of these diseases it has served as a springboard to study other diseases such as ... a more profound difference to people’s health by understanding the genetic basis of disease. What is the ultimate goal for your research? ... Cancer in recognition of his outstanding research track record in genetic predispositions to cancer. The work involved looking at the ...
Category: Researcher Profiles
... research interests? My research interests include identifying the genetic modifiers affecting the severity of a paediatric cancer ... in the future. The study is open to adults with a clinical or genetic diagnosis of NF1. Participants can register here . Neurofibromatosis type 1 (NF1) is one of the more common rare diseases with a prevalence of 1 in 2500. Children and adults with this ...
