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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Genetics
Mining 25 years of data uncovers a new predictor of age of onset for Huntington disease
Investigators at the University of British Columbia (UBC)/Centre for Molecular Medicine & Therapeutics (CMMT) and BC Children's Hospital have examined more than 25 years of data to reveal new insights into predicting the ...
May 16, 2019
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Genetics
More clues to the genetics behind an inherited cholesterol disorder
High cholesterol is a risk factor for heart disease, but not all forms of it are the same. An underdiagnosed genetic condition called familial hypercholesterolemia can cause dangerously high levels of cholesterol at an early ...
May 15, 2019
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Medical research
Differences between skeletal and heart muscle ion channel lends insight into inherited heart disease
Johns Hopkins Medicine researchers recently found a key structural differences in channels that regulate how and when heart and skeletal muscles contract. Identifying the differences between the two, say researchers, provides ...
May 15, 2019
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Genetics
How mutations lead to neurodegenerative disease
Scientists have discovered how mutations in DNA can cause neurodegenerative disease. The discovery is an important step towards better treatment to slow the progression or delay onset in a range of incurable diseases such ...
May 13, 2019
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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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Neuroscience
Huntington drug successfully lowers levels of disease-causing protein
An international clinical trial has found that a new drug for Huntington disease is safe, and that treatment with the drug successfully lowers levels of the abnormal protein that causes the debilitating disease in patients.
May 6, 2019
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Genetics
Quebec siblings with rare orphan disease lead to discovery of rare genetic diseases
Mutations in a gene involved in brain development have led to the discovery of two new neurodevelopmental diseases by an international team led by researchers at McGill University and CHU Sainte-Justine Research Center.
Apr 25, 2019
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Oncology & Cancer
Promise of liquid biopsy in cancer biomarker detection and prenatal screening
The promise and challenges of liquid biopsy, an emerging, noninvasive method for targeted disease diagnosis and detection of cancer biomarkers to enable improved and personalized therapy, is the focus of a new special issue ...
Apr 22, 2019
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Diseases, Conditions, Syndromes
Risk of congenital Zika syndrome greater than previously thought
Zika virus infection during pregnancy was first linked to birth defects during the outbreak in the Americas in 2015 and 2016; however, the Zika virus was discovered decades ago. Why then were adverse outcomes during pregnancy ...
Apr 19, 2019
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