Michael Wangler Lab

Michael Wangler Lab Projects

Master
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Current Major Projects

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Disease Gene Discovery (Undiagnosed Diseases Network and Community Texome Project)

  • Start with unsolved disease (clinical features suggest likely Mendelian)
  • Identify Candidate genes in Genomic data (Exome sequencing, Genome Sequencing)
    • CTNNB1: Rosetti et al. Mol Genet Genom Med 2021
    • NACC1: Schoch et al. AJHG 2017
    • ACTG2: Wangler et al. 2014
  • Study candidate genes in Drosophila models                        
    • MRTFB: Andrews et al. Genet Med. 2023
    • CACNA1A: Luo et al. PLoS Genet. 2017
    • EBF3: Chao et al. AJHG 2017
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Texome Project Logo
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Logo for the Undiagnosed Diseases Network

 

 

Rare Disease Mechanisms -> Peroxisomal disorders - Genomic and metabolomic studies of peroxisomal disorders in humans, seeking insights from rare diseases into peroxisomal metabolism

  • Unique rare cases: Ventura et al. 2016, Bacino et al. 2015
  • Drosophila models:  Wangler et al. 2017, Chao et al. 2016, Graves et al. 2020
  • Metabolomics: Wangler et al. 2018
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Logo for the Global Foundation of Peroxisomal Disorders