Ocular Genomics
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      • Retinitis Pigmentosa 1
      • Genome editing for dominant IRDs
      • Genome editing for USH2A associated IRD
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      • Retinal Degeneration Disease Gene Discovery
      • NMNAT1 Leber Congenital Amaurosis (LCA)
      • Novel Photoreceptor Sensory Cilia Proteins
      • RNA Splicing Factor Retinitis Pigmentosa/Transcriptome Analyses
      • Pericentral Retinitis Pigmentosa
      • High-throughput Functional Studies of Sequence Variants
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The Engle Laboratory, an HHMI molecular genetics and developmental neuroscience research lab at Boston Children’s Hospital and affiliated with Harvard Medical School, studies cranial nerve development in health and in congenital disorders. Themes include:

  • Clinical and genetic studies of the Congenital Cranial Dysinnervation Disorders (CCDDs), particularly those that result in complex paralytic strabismus and/or facial weakness
  • Cranial motor neuron development and mechanisms underlying CCDDs resulting from coding and noncoding genetic variation:
    • Cranial motor neuron specification
    • Cranial axon growth and guidance
    • Cytoskeletal perturbations from variants in tubulin isotypes and kinesin motor proteins
    • Transcriptomics and proteomics of cranial motor neurons and their growth cones
    • Epigenetics of developing cranial motor neurons
  • Molecular basis of selective vulnerability in Mendelian disorders
  • Genetic studies of esotropia and exotropia as Mendelian and complex traits

To learn more about the research of the Engle Lab, please visit: Meet the Engle Lab Members