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As the leading childhood developmental disorder in the United States, autism affects approximately one out of every 166 children, a statistic that rested at two out of every 10,000 just ten years ago. This neurological disorder generally appears within the first three years of life, impairing the child's intuitive thought, as well as their language and social development facilities. Autism's underlying cause is not known and no biological diagnosis currently exists. TGen is undertaking a comprehensive multiple-faceted research studies geared to uncover the genetic basis for autism. From these studies, TGen hopes to develop better diagnostics for earlier behavioral intervention and identify new pharmaceutical targets for treatment. The research program to date has focused on developing a blood-based diagnostic for autism and identifying new druggable targets for autism treatment, by identifying biological differences between autistic individuals and healthy controls. We have taken a three-armed approach by scanning the (1) DNA (the genetic code we are born with), (2) RNA (the messages from transcribing our genetic code), and (3) protein (the machines produced when the genetic code is translated), for autistic individuals and for healthy controls. TGen's partnerships with the Southwest Autism Research and Resource Center and the Autism Genetic Resource Exchange have provided greater opportunities to collaborate more robust genetic studies to identify the genetic mutations. Director & Senior Investigator of the Neurogenomics Division, Dr. Dietrich Stephan's research activities as Head of the Neurobehavioral Research Unit at TGen focus on the identification of the heritable genetic factors underlying devastating disorders such as autism, bipolar disease, and others.
Dr. Stephan's lab has been involved in identifying the chromosomal positions of over 15 disease-causing genes, and has identified mutations causing five different human diseases, including juvenile-onset cataracts, prostate cancer, two types of fatal cardiac arrhythmias, and a rare form of Sudden Infant Death Syndrome. |
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