Privacy Protection in Whole Genome Sequencing
Whole genome sequencing (WGS) is the genetic test that determines the order of all 3 billion letters in a person’s DNA, and is a technology that has become well known to the rare disease community. It...
View ArticleMaking Sense of Antisense Therapy
What is antisense therapy? Most human diseases are caused by production of abnormal proteins or malfunctioning proteins. Antisense therapy involves inhibiting production of these proteins. When a...
View ArticleInformed Consent in Biobank Research
Genetic biobanks, storage facilities for DNA, genetic data and tissue samples, are becoming more prevalent in the rare disease community. The information and samples can be made available to approved...
View ArticleA CRISPR Approach to Genome Editing
Genome editing is a process that involves cutting out mutations in DNA and replacing them with new genetic material. This is an exciting idea because if it can be refined to a level that is safe and...
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Taking Action for ACD
Johnny Rista On February 20th, 2013, Eliza and John Rista of Huntersville, North Carolina were blessed with an uncomplicated pregnancy, and a healthy, full-term baby boy weighing 8 pounds and 6 ounces....
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