In between meetings, events, science workshops, and getting work done in the lab, Helix employees love finding a few minutes here and there to read. (A, C, G, and T might be our four favorite letters, but we actually like all of them.) Each month, we’ll be highlighting articles and books that catch our attention.
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“Mystery condition gives way to bright future for 10-year-old”
By exploring the genome for changes in the DNA, geneticists can sometimes help doctors recognize the molecular cause of a disease; this was the case for a 10-year-old girl named Avery Reilly. In this article, CNN tells the story of how Avery’s exome sequence helped explain the cause of her mysterious condition.
“FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss”
Retinal dystrophy is a debilitating disease that can lead to loss of vision in children. Research has shown that this loss of function results from changes in the DNA that affect one or more of the 220 different genes linked to this disease. In this article, the FDA describes a new gene therapy which may provide a cure for some people suffering from retinal dystrophy. The therapy delivers a corrected version of one gene (RPE65) which may help restore vision for individuals whose condition is caused by a mutation in this gene—approximately 1,000 to 2,000 people in the United States.
“Irish Ancestry Surprises Revealed by New DNA Map”
In genetic ancestry, the level of detail that can be reported is strongest and most granular when there has been a lot of research on people from a specific geographical region. National Geographic describes a recent study that sought to improve the level of detail provided to people of Irish decent. Results from this study touch on disease distributions in this group, and interestingly, provides the first genetic evidence of historical intermingling between Vikings and Irish.
“2017 in pictures: The best science images of the year”
This breathtaking article from Nature shows us some of the top scientific pictures taken this year, ranging in scale from the celestial to the microscopic. Scientific research can be visually stunning, and this article is fantastic evidence of that!