Genetics
Groundbreaking genetic discovery shows why Lupus develops
In a world first, researchers from The Australian National University (ANU) have shown previously ignored rare genetic mutations are a major cause of lupus.
May 17, 2019
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News tagged with rare genetic diseases
Other
The Chinese dad making medicine to treat his dying son
Two-year-old Haoyang has likely just months to live—but the only medicine that can help his rare genetic condition is not found anywhere in China and closed borders due to the COVID-19 pandemic mean he cannot travel for ...
Nov 23, 2021
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Ophthalmology
Bionic eye gives hope to the blind
After years of research, the first bionic eye has seen the light of day in the United States, giving hope to the blind around the world.
Feb 5, 2013
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Genetics
Researchers identify the first patients with new, rare disease caused by defects in cell division
When cells divide, through a process called mitosis, the genetic information must be equally distributed among the new cells. That is the moment when mitotic errors can arise, potentially leading to DNA damage, including ...
Jan 20, 2022
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Genetics
Single test for more than 50 genetic diseases will cut diagnosis from decades to days
A new DNA test, developed by researchers at the Garvan Institute of Medical Research in Sydney and collaborators from Australia, UK and Israel, has been shown to identify a range of hard-to-diagnose neurological and neuromuscular ...
Mar 4, 2022
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Alzheimer's disease & dementia
Researchers discover two, rare genes associated with Alzheimer's disease
Researchers have identified two, extremely rare genetic variants linked to Alzheimer disease (AD) for the first time.
Mar 29, 2019
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Cardiology
Scientists discover the cause of accelerated atherosclerosis and premature death in progeria
Hutchinson-Gilford syndrome (HGPS, also known as progeria) is a very rare genetic disease that affects fewer than 400 people globally, and for which there is no effective treatment. HGPS is characterized by early aging accompanied ...
Mar 6, 2018
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Genetics
Vitamin B12 deficiency: Tracking the genetic causes
Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, ...
Aug 26, 2012
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Genetics
Discovery may help to explain mystery of 'missing' genetic risk
A new study could help to answer an important riddle in our understanding of genetics: why research to look for the genetic causes of common diseases has failed to explain more than a fraction of the heritable risk of developing ...
Feb 13, 2014
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Genetics
Australian breakthrough in stem cell kidney research
New research led by the Murdoch Children's Research Institute (MCRI), has combined gene editing technology with stem cell kidney regeneration to correct a patient's gene mutation.
May 4, 2018
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