Michael Wangler, M.D.
Associate Professor, Department of Human and Molecular Genetics, Baylor College of Medicine
Principal Investigator, the Jan and Dan Duncan Neurological Research Institute
Our lab studies rare human disease phenotypes in order to gain insight into general principles of human health. Our overall goal is to improve our understanding of the molecular pathogenesis of Mendelian disease by merging clinical observations, genomics and studies in model organisms particularly Drosophila melanogaster. We are currently using Drosophila to study Mendelian disorders and their underlying genetic and develop-mental mechanisms in two major efforts:
1) Model Organisms and the Molecular Pathogenesis of Mendelian Disorders: We use Drosophila models for diagnostic paradigms. We are part of the Model Organisms Screening Center (MOSC) for the Undiagnosed Diseases Network (UDN). Similar efforts are underway related to the Centers for Mendelian Genomics (CMG) and the Simon’s Foundation for Autism Research Initiative (SFARI).
2) Mendelian Disorders of the Peroxisome and Organelle Dynamics: Peroxisomes are fundamental sub-cellular organelles present in all eukar-yotic cells. We use clinical and Drosophila studies in the elucidation of mechanisms of Peroxisomal Biogenesis Disorders- Zellweger Spectrum disor-ders (PBD-ZSD). These diseases are expanding from autosomal recessive disorders to a broad range of human disease related to peroxisomes.
Publications
Schulze KV, Hanchard NA, Wangler MF*. (2020) Biases in arginine codon usage correlate with genetic disease risk. Genet Med. May 6. *Corresponding Author
Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, (…) Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Lupski JR, Beaudet AL, Wangler MF*. (2020) Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. Mar;41(3):641-654. *Corresponding Author
Graves HK, Jangam S, Tan KL, Pignata A, Seto ES, Yamamoto S, Wangler MF* (2020). A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease.G3 (Bethesda). 2020 Jan 7;10(1):69-77. *Corresponding Author
Assia Batzir N, Bhagwat PK, Eble TN, Liu P, Eng CM, (…) Wangler MF* (2019) De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. Jun 3;5(3). *Corresponding Author
Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, (…) Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA (2018) Undiagnosed Diseases Network. Effect of Genetic Diagnosis on Patients with Previously Undiag-nosed Disease.N Engl J Med. Nov 29;379(22):2131-2139.
Wangler MF*, Hubert L, Donti TR, Ventura MJ, Miller MJ, (…) Elsea SH. (2018) A metabolomic map of Zellweger spectrum disor-ders reveals novel disease biomarkers. Genet Med. Oct;20(10):1274-1283. *Corresponding Author
Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, (…) Bellen HJ (2017) Model Organisms Facilitate Rare Disease Di-agnosis and Therapeutic Research. Genetics. Sep;207(1):9-27.
Luo X, Rosenfeld JA, Yamamoto S, Harel T, Pastore M, (...), Members of the UDN, Lotze T, Lupski JR, Lalani S, Yang Y, Lee B, Bellen HJ, Wangler MF* (2017). Missense de novo variants in the CACNA1A associated with severe early onset ataxias can be gain or loss of function in Drosophila. PLoS Genet. 13: e1006905. *Corresponding Author
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, (...), Wangler MF*, Shashi V* (2017). A Recurrent de novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts and Profound Developmental Delay. Am J Hum Genet. 100: 343-351. *Corresponding Au-thors
Wangler MF*, Chao YH, Bayat V, Giagtzoglu N, Putluri, N, (...), Bellen HJ. (2017) Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse. PLoS Genet. 13: e1006825. *Corresponding Author
Click this link to see a complete list of Dr. Wangler's publications.