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 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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Medical research
Study: Stem cells may aid vision in blind people
The first use of embryonic stem cells in humans eased a degenerative form of blindness in two volunteers and showed no signs of any adverse effects, according to a study published by The Lancet on Monday.
Jan 23, 2012
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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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Medical research
New treatment for muscular dystrophy wins US regulatory approval
Research led by Professor Steve Wilton and Professor Sue Fletcher and licensed to Sarepta Therapeutics has delivered a second treatment for Duchenne muscular dystrophy, with the drug gaining accelerated approval by the U.S. ...
Jan 8, 2020
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Diseases, Conditions, Syndromes
Here's what you need to know about Candida auris, a superbug that's spreading in the US
The U.S. Centers for Disease Control and Prevention is alerting health care facilities to monitor for Candida auris, a drug-resistant fungus that is difficult to diagnose and treat, and often spreads in hospitals, nursing ...
Apr 22, 2019
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Diseases, Conditions, Syndromes
Q&A: How to manage symptoms of liver disease
DEAR MAYO CLINIC: My husband is 45 and has lived with irritable bowel syndrome for many years. He was recently diagnosed with primary sclerosing cholangitis. Are these two conditions related? We were told a liver transplant ...
Jul 14, 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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Health
Study finds vitamin B12 is a key player in cellular reprogramming and tissue regeneration
Vitamin B12 is a well-known micronutrient that has long been acknowledged for its essential role in maintaining nerve function, supporting red blood cell production, and facilitating DNA synthesis, all vital processes for ...
Nov 16, 2023
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