4th Annual DDX3X Family Conference
- The Science History Institute
315 Chestnut St, Philadelphia, PA 19106
Keynote and Photography: Rick
-Is caused by a spontaneous mutation at conception; nothing either parent did caused their child’s condition
-Primarily affects girls due to its location on the X-chromosome, though there are affected boys
-Was only recently discovered in 2014
-Has only been identified in about 200 individuals, however, doctors believe it is the cause of 1 to 3 percent of all intellectual disabilities in females
-Is often misdiagnosed as autism spectrum disorder, cerebral palsy, Rett Syndrome, Dandy Walker Syndrome, or a generic developmentally delayed label
-Is linked to intellectual disabilities, seizures, autism, low muscle tone, abnormalities of the brain, and slower physical developments
-Has a broad spectrum—some children learn to speak in full sentences while others are nonverbal; some individuals run, jump, and even ski while others are unable to walk
DDX3X Foundation: Our mission is to connect families, resources, and the medical community to advance research for a cure to DDX3X gene mutations.
Our ultimate goal over the coming years is to accelerate brain function in individuals affected by DDX3X through advances in gene therapy and pharmaceuticals.