Two children from Europe and one from Canada, aged four, six and 10, suffer from a previously unknown disease that causes epileptic seizures, loss of magnesium and reduced intelligence. There is currently no way to treat ...
Jan 11, 2019
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276
As genomic sequencing becomes increasingly commonplace in the clinic, questions remain about its use and role among newborns. Can sequencing provide actionable insights? How common is it to find something important to a child's ...
Jan 3, 2019
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203
Evidence that type 2 diabetes is a cause of erectile dysfunction has been found in a largescale genomic analysis.
Dec 20, 2018
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418
For children born with Saul-Wilson syndrome, and their parents, much of their lives are spent searching for answers. First defined in 1990, only 14 cases are known worldwide. And the cause of the syndrome—characterized ...
Oct 4, 2018
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129
Cataracts, a condition in which the eyes' natural lenses get clouded, are the most common cause of vision loss in older people and can be corrected by routine surgery. But congenital cataracts, which occur in infants and ...
Oct 4, 2018
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54
The same aspects of relatively recent evolutionary changes that make us prone to bad backs and impacted third molars may have generated long, noncoding stretches of DNA that predispose individuals to schizophrenia, bipolar ...
Aug 9, 2018
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494
An international group of researchers led by Cold Spring Harbor Laboratory (CSHL) Assistant Professor Gholson Lyon has identified a new genetic mutation associated with intellectual disability, developmental delay, autism ...
Apr 12, 2018
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193
A study led by researchers at McMaster University has pinpointed a gene that is responsible for neurodevelopmental disorders, including autism.
Mar 5, 2018
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2169
A genetics research team at Johns Hopkins Medicine has solved a dilemma facing researchers who use genomewide association studies (GWAS) by developing a new approach that strategically "filters" which genes are worth further ...
Mar 5, 2018
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53
An analysis of nearly 3,800 colorectal cancer patients—the largest germline risk study for this cancer to date—reveals opportunities for improved risk screening and, possibly, treatment.
Feb 23, 2018
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82
