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 mutations
Genetics
Genome editing helps decipher a congenital liver disease
Congenital hepatic fibrosis (CHF) is a rare genetic disease that causes malformation and fibrosis (scarring) of the liver. Occurring in roughly one out of every 20,000 births, CHF can lead to an enlarged liver, impaired blood ...
May 8, 2019
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Genetics
Neonatal DNA tests could save young lives, expert says
A few months ago, Lisa Diller saw a family for a consultation in her cancer clinic. Their story is one of tragedy, and of hope.
Apr 1, 2019
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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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Genetics
Wilson disease: Genetic mutation "protects" against fatty liver and ensures better prognosis
Wilson disease (copper storage disease) is a rare genetic disorder in which one or more genetic mutations disrupt copper metabolism in the liver. At some point, the liver becomes incapable of eliminating copper with bile, ...
Feb 26, 2019
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Oncology & Cancer
Gene involved in colorectal cancer also causes breast cancer
Rare mutations in the NTHL1 gene, previously associated with colorectal cancer, also cause breast cancer and other types of cancer. Researchers from Radboud university medical center, Leiden University Medical Center and ...
Feb 12, 2019
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Cardiology
Edging closer to personalized medicine for patients with irregular heartbeat
In 2015, then President Barack Obama launched a precision medicine initiative, saying that its promise was "delivering the right treatments, at the right time, every time to the right person." A biomedical engineer at Washington ...
Dec 19, 2018
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Genetics
Predicting the transmission of rare, genetically based diseases
There are only 25 people in the whole of Quebec at the moment who have a rare recessive genetic disease called chronic atrial and intestinal dysrhythmia (CAID). It is a serious disease that affects both heart rate and intestinal ...
Dec 6, 2018
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Oncology & Cancer
Breast cancer's deadliness is influenced by genes
An international team of scientists have confirmed that both rare and common mutations of our genes are linked to the development of breast cancer, including tumour characteristics and corresponding deadliness. Interestingly, ...
Nov 2, 2018
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Genetics
Potential drug to cure ciliopathies
Ciliopathies are rare disorders involving functional and structural abnormalities of cilia. Although they are rare, they may reach 1 in 1,000 births. Unfortunately, there are no small-molecule drugs for treating ciliary defects. ...
Aug 30, 2018
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