A new approach that distills deluges of genetic data and patient health records has identified a set of telltale patterns that can predict a person’s risk for a common, and often fatal, cardiovascular disease, according to a new study from the Stanford University School of Medicine. This graphical abstract illustrates how a machine-learning approach integrating...
Category: <span>Genetics</span>
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Stray proteins cause genetic disorders
The seizures typically begin in the first months of life. It often takes years, however, before those suffering from the rare glucose transporter type 1 (Glut1) deficiency syndrome obtain a correct diagnosis. If the disorder goes untreated, affected children experience developmental delay and frequently have neurological problems. Various defects in one gene underlie the syndrome....
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Mutations, drugs drive cancer by blurring growth signals
Novel technique lets researchers control common cancer pathway in the lab with pulses of light, revealing the hidden importance of precise timing in cellular signaling UNIVERSITY OF CALIFORNIA – SAN FRANCISCO Genetic mutations in a form of non-small cell lung cancer (NSCLC) may drive tumor formation by blurring cells’ perception of key growth signals, according to a...
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New study explains why genetic mutations cause disease in some people but not in others
Researchers at the New York Genome Center (NYGC) and Columbia University have uncovered a molecular mechanism behind one of biology’s long-standing mysteries: why individuals carrying identical gene mutations for a disease end up having varying severity or symptoms of the disease. In this widely acknowledged but not well-understood phenomenon, called variable penetrance, the severity of the...
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New gene editing approach for alpha-1 antitrypsin deficiency shows promise
A new study by scientists at UMass Medical School shows that using a technique called “nuclease-free” gene editing to correct cells with the mutation that causes a rare liver disease leads to repopulation of the diseased liver with healthy cells. Alpha-1 antitrypsin deficiency is an inherited disease that causes liver and lung damage; the Mueller...
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New genome-editing strategy could lead to therapeutics
Researchers at UMass Medical School have developed a genome-editing strategy to correct disease-causing DNA mutations in mouse models of human genetic diseases, according to research published in the Aug. 18 edition of Nature Biotechnology. Credit: CC0 Public Domain First author Dan Wang, Ph.D., instructor in microbiology & physiological systems, together with co-corresponding authors Guangping Gao, Ph.D., the Penelope Booth...
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New CRISPR technique skips over portions of genes that can cause disease
UNIVERSITY OF ILLINOIS AT URBANA-CHAMPAIGN CHAMPAIGN, Ill. — In a new study in cells, University of Illinois researchers have adapted CRISPR gene-editing technology to cause the cell’s internal machinery to skip over a small portion of a gene when transcribing it into a template for protein building. This gives researchers a way not only to eliminate a mutated gene...
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Genes drive aging, making normal processes damaging
Ageing in worms mainly results from the direct action of genes and not from random wear and tear or loss of function, and the same is likely to be true in humans, according to research by UCL, Lancaster University and Queen Mary University of London scientists. IMAGE: THE DETERIORATIVE PART OF AGEING, CALLED ‘SENESCENCE’, IS THE...
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First grand project from Genome Project-write (GP-write) looks to develop ultra-safe virus-resistant cells
The leadership of the GP-write project – Jef Boeke from NYU Langone Medical Centre (NY), George Church from Harvard Medical School (MA), Andrew Hessel from Autodesk Inc (CA) and Nancy J Kelley from New York Genome Center (NY, all USA) – have announced their project’s latest developments. Updating the goals of their seminal GP-write paper, published...
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Parkinson’s gene affects more people than previously thought
New research finds that a gene previously thought to affect only a small percentage of Parkinson’s disease cases actually affects many more. The findings mean that treatments that are being developed for a small number of people may, in fact, benefit many more. Almost 1 million people in the United States and nearly 10 million people across the world...