U.S. Department of Health and Human Services
Karen Usdin
 

 Contact Info

 
Tel: 301-496-2189
Email: karenu@helix.nih.gov
 

 Select Experience

 
  • Ph.D.University of Cape Town1986
 

 Related Links

 
     

    Karen Usdin, Ph.D.

    Senior Investigator, Laboratory of Cell and Molecular Biology, Office of the Chief
    Specialties
    •  Stem Cells/Induced Pluripotent Stem Cells
    • Chromosome Biology/Epigenetics
    • Genetics/Genomics
    • Molecular Biology/Biochemistry

    ​Research Images

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    TitleDescriptionImage
    SIRT1 is involved in FMR1 gene silencing in Fragile X mental retardation syndromeThis image depicts an artistic representation of events occurring during the silencing of the FMR1 gene in Fragile X mental retardation syndrome (FXS).  FXS alleles become associated with SIRT1, which deacetylates histone H3 and histone H4—leading to chromatin compaction and gene silencing.  Image Credit: PLoS Genetics, March 2008, Dr. Marian L. Miller (Journal-Cover-Art.com).SIRT1 is involved in FMR1 gene silencing in Fragile X mental retardation syndromeEnlarge
    Fragile X premutation mice show neurodegeneration similar to humans with Fragile X-associated tremor and ataxia syndromeSimilar neurodegeneration includes: (i) Ubiquitin staining [thalamus] (Inset: section [reticular formation] counterstained with Neutral Red), (ii) Lamin-positive inclusions (arrows) and irregular distribution of lamin [cerebellum] (Inset: normal lamin distribution), and (iii-v) Calbindin staining [cerebellum] showing swollen axons, abnormal calbindin distribution, and purkinje cell dropout.Fragile X premutation mice show neurodegeneration similar to humans with Fragile X-associated tremor and ataxia syndromeEnlarge
    Chromosome fragility in FXS cellsIn situ hybridization of metaphase chromosome spreads from a patient with Fragile X syndrome showing the chromosomes in blue and the region of the X chromosome containing the FMR1 gene in yellow.Chromosome fragility in FXS cellsEnlarge