U.S. regulators have approved the most expensive medicine ever, for a rare disorder that destroys a baby's muscle control and kills nearly all of those with the most common type of the disease within a couple of years.
May 24, 2019
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A newly discovered gene defect among people of Inuit ancestry in Greenland, Canada and Alaska will possibly lead to screening of all newborn Inuits as they will otherwise be at risk of dying from child vaccines or simple ...
Apr 26, 2022
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For the first time, scientists have cleanly corrected a human gene mutation in a patient's stem cells. The result, reported in Nature on Wednesday 12 October, brings the possibility of patient-specific therapies closer to ...
Oct 12, 2011
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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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Approximately one in every 100 babies is born with congenital heart disease (CHD), and CHD remains the leading cause of mortality from birth defects. Although advancements in surgery and care have improved rates of survival ...
Oct 9, 2017
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Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, ...
Aug 26, 2012
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A group of researchers has found that three siblings born with cleft lip and palate share a common gene mutation associated with the birth defect.
Mar 21, 2017
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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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A new study from Tel Aviv University (TAU) presents an innovative treatment for deafness, based on the delivery of genetic material into the cells of the inner ear. The genetic material "replaces" the genetic defect and enables ...
Dec 23, 2020
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(MedicalXpress)—A new technique developed by a team of researchers affiliated with a number of facilities in China allows medical practitioners involved in IVF treatment to more easily weed out embryos with genetic defects ...
