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Biomarkers and translational outcome measures in multiple models of Angelman Syndrome and Dup15q Syndrome.

Treatment of non-functional Ube3a/UBE3A gene through various genetic, molecular, and drug treatments.

 

Biomarker research:

  • Unique EEG signatures

  • Sleep characterization

Translational phenotyping:

  • Cognitive

  • Motor

  • Development

  • Communication

 
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Impact of various environmental insults on genes and behavior

  • Air pollution

  • Chlorpyrifos

Hematopoietic stem cells (HSC) cross -correction

Cross Correction image developed by Liz Sahagun Image 1: Brain vascular JL Designs; Image 2: Harris, W.J., Asselin, MC., Hinz, R. et al. In vivo methods for imaging blood–brain barrier function and dysfunction. Eur J Nucl Med Mol Imaging 50, 1051–1083 (2023). https://doi.org/10.1007/s00259-022-05997-1; Image 3: NEI-medialibrary-7059713.jpg Image 4: modified by Anna from Sands MS, Davidson BL. Gene therapy for lysosomal storage diseases. Mol Ther. 2006 May;13(5):839-49. doi: 10.1016/j.ymthe.2006.01.006. Epub 2006 Mar 20. PMID: 16545619.