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Telebriefing by experts from the Food and Drug Administration, the National Institutes of Health and the Centers for Disease Control and Prevention to respond to questions about this study. The paper is currently under embargo until Monday, August 23 at 3:00 p.m., by the Proceedings of the National Academy of Sciences.
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Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach sequences just the exome, the 1-2 percent of the human genome that contains protein-coding genes.
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Teen speaks out boldly to dispel myths about Tourette’s syndrome
During his first public presentation as Youth Ambassador for the National Tourette Syndrome Association, 14-year-old Nathaniel Ray was bombarded with questions from fifth-graders at Stone Lakes Elementary in Orlando last week.
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