Clinical Research

As an active medical geneticist, Dr. Wangler is involved in several clinical studies.

 

Biochemical and Cell Biology Correlates of Peroxisomal Disorders

This is an active study since 2012 enrolling patients with known or suspected peroxisomal disorders for extensive biochemical analysis utilizing the latest methods in metabolomics, lipidomics, genomics and other modalities. We have worked with extensive collaboration with the Global Foundation for Peroxisomal Disorders (www.thegfpd.org). Clinical Studies funded by Clayton Murphy Peroxisomal Disorders Research Fund and Simmons Family Foundation. For further information about enrollment contact Dr. Michael Wangler.
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The Global Foundation for Peroxisomal Disorders- Scientific Advisors

Mendelian Disease Gene Discovery

We have a large cohort of patients with Intestinal motility disorders. These include Visceral myopathy, Megacystis Microcolon Intestinal Hypoperistalsis syndrome (Berdon syndrome) and intestinal pseudo-obstruction. We are recruiting families into the Centers for Mendelian Genomics (www.mendelian.org). We study ACTG2 and use whole-exome sequencing. See our GeneReviews on ACTG2-Related Disorders (http://www.ncbi.nlm.nih.gov/books/NBK299311/).
logoCenters for Mendelian Genomics

The Undiagnosed Diseases Network

We work with the Undiagnosed Diseases Network as part of the Model Organism Screening Center (http://undiagnosed.hms.harvard.edu/). UDN enrollment is driven by the patient with a letter from their doctor. For more information see (http://undiagnosed.hms.harvard.edu/apply/).
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Texas Children's Hospital profile