Am J Hum Genet 2020 11 23;107(5):911-931. Epub 2020 Oct 23.
Prenatal Genomics and Therapy Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Mother Infant Research Institute, Tufts Medical Center and Tufts Children's Hospital, Boston, MA 02111, USA. Electronic address:
Human fetuses with trisomy 21 (T21) have atypical brain development that is apparent sonographically in the second trimester. We hypothesize that by analyzing and integrating dysregulated gene expression and pathways common to humans with Down syndrome (DS) and mouse models we can discover novel targets for prenatal therapy. Here, we tested the safety and efficacy of apigenin, identified with this approach, in both human amniocytes from fetuses with T21 and in the Ts1Cje mouse model. Read More