Miriam Meisler Ph.D.
Professor of Human Genetics
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Meisler Lab Home Page

Welcome! In the Meisler Lab we investigate genetic variation and diversity using the resources of the mouse and human genomes. Currently we are focused on understanding the molecular mechanisms underlying neurological disease. Mouse genetics provides an entre into human neurological disease through the generation of new mouse models as well as the study of spontaneous mouse mutants. Mouse mutants that we have characterized include wobbler, flailer, mnd2, pale tremor, doubleridge, infantile gliosis and med (motor endplate disease).

Current projects:

  • Evaluation of candidate genes for neuropsychiatric disease.

  • Functional characterization of Scnm1, a putative mRNA splicing factor and modifier in mice.

  • Role of the endocytic pathway in neurodegeneration.

  • Behavioral studies of the Scn8a conditional knock-out mouse.

  • Characterization of the Scn8a promoter.

  • Alternative splicing of Scn8a.

  • Genetic modifiers and pathogenesis of inherited epilepsy.

  • Positional cloning of mouse neurological mutants.

  • The nuclear-encoded gene OMI and mitochondrial disease.

  • Functional characterization of pathogenic mutations in sodium channel Scn8a.