Dante's Story: Genomics and Hemimegalencephaly
This video tells the story of a boy with a congenital brain condition and how analyzing samples from him and other patients helped discover the genetic cause.
Dante is a 10-year-old boy born with a rare condition called hemimegalencephaly, which means that half the brain is abnormally large. This video describes the decision by Dante’s parents and physicians to remove the enlarged half of his brain and Dante’s recovery from the surgery. The video also shows how scientists were able to use preserved brain tissue from Dante and other patients to identify a gene that plays a critical role in brain development.
This clip is from a 2013 Holiday Lecture Series, Medicine in the Genomic Era.
AKT3, brain, epilepsy, health care, medicine, neuroscience, seizure, single nucleotide polymorphism (SNP)