Doctors have used the up-and-coming gene therapy tool CRISPR in a human for the first time as part of an ongoing clinical trial to treat a genetic condition called Leber congenital amaurosis (LCA). LCA is an inherited eye disorder that affects the retina (the layer of tissue at the back of the eye that detects…

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4.4.12 (2) (1) Last Updated: January 8, 2019 This was the first in a series of articles built to highlight rare hereditary cancer syndromes.  Heather (@ZHeatherChamp)  shared her story of living with Cowden syndrome. Genetic Counseling Note: People who have a mutation (also known as a pathogenic variant) in the PTEN gene can have one of several…

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In a recent video, we outlined the pros and cons of whole exome sequencing in children and newborns, currently a controversial topic in the field of genetics. After all, there is still a lot that scientists and healthcare providers don’t know about the effects of test results on children later in life. This week, a study published in Public…

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Thanksgiving is coming up and there is a good chance that you will have the rare opportunity to visit with extended family for a few hours.  Now is the time to milk them.  Not for money, not to be written into their inheritance, but for another type of precious family heirloom — your family history.…

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This week JAMA published a viewpoint on whether life insurers should have access to genetic test results and, understandably, it unearthed some long-standing fears about genetic discrimination. We do have protection from some forms of such discrimination under the Genetic Information Nondiscrimination Act (GINA), enacted in 2008. GINA provides protection against the use of genetic…

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