A group of seven patients presenting with a similar disorder of unknown origin now know of a possible genetic root of their condition. A team of researchers sequenced all the protein-coding genes in the patients' genomes ...
Jun 28, 2018
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Maternal folic acid supplementation has reduced the prevalence of neural tube defects, one of the most common structural malformations in people, by up to 80 percent. However, many infants are still born with a neural tube ...
May 1, 2018
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(HealthDay)—Imagine a world in black and white.
Apr 6, 2018
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After a progressive weakening of the muscles takes away their motor skills, and then their abilities to stand and walk, most males with Duchenne muscular dystrophy die of heart and respiratory failure in their 20s.
Apr 6, 2018
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A new study has definitively shown that a single treatment with gene therapy using adeno-associated viral (AAV) vector gene delivery to replace the defective gene responsible for congenital adrenal hyperplasia (CAH) will ...
Mar 29, 2018
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The more information you have, the better able you are to predict what will happen next. Clinicians and health researchers often look at gene mutation to predict whether a fetus is at risk for a birth defect, or a person ...
Mar 7, 2018
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A new variant of the gene-editing CRISPR/Cas9 system is safer and more specific than versions previously used in early research towards a treatment for Huntington's disease, shows research published today in Frontiers in ...
Feb 26, 2018
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Screening for mutations influencing the migration of nerve cells in mice, scientists found a gene that plays a role in the transport of proteins within nerve cells. If less of the protein is present in the developing mouse, ...
Feb 1, 2018
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A study of families with rare blood sugar conditions has revealed a new gene thought to be critical in the regulation of insulin, the key hormone in diabetes.
Jan 15, 2018
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If your face goes red when drinking alcohol, you're not alone. More than one in three people with East Asian heritage (Chinese, Japanese and Korean) experience facial flushing when drinking beer, wine or spirits.
Dec 28, 2017
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