Ashley is a KIF1A superhero. Hometown: Dallas, TX Age: 9 months Has an incredible big sister. Total Superhero.
Read MoreThe Forgotten Amendment: A Newborn’s Right to Whole Exome Sequencing
By Luke Rosen On December 18, 2014, President Obama signed into law an amendment to the Newborn Screening Saves Lives Reauthorization Act of 2014 giving the Secretary of Health and Human Services authority to regulate newborn screening tests. Before this amendment was passed, newborn screening polices varied from state to state. The amendment included new tracking…
Read MoreProgressive Shopping for Superheroes
The vocabulary of a KIF1A mutation is very confusing. This variant has it’s own language, and it’s a foreign one. For instance, the word “progressive” is the opposite of a child making progress.
Read More