Molecular and Developmental Mechanisms of Mendelian Disorders
Our lab studies rare human disease phenotypes in order to gain insight into general principles of human health. Methods include clinical studies in rare disease, genomics and model organism genetics particularly Drosophila melanogaster. We are currently using Drosophila to study Mendelian disorders and their underlying genetic and developmental mechanisms in two major efforts:
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). We have also started a similar effort in underserved populations called Community TEXOME.
Mendelian Disorders of the Peroxisome and Organelle Dynamics
Peroxisomes are fundamental sub-cellular organelles present in all eukaryotic cells. We use clinical and Drosophila studies in the elucidation of mechanisms of Peroxisomal Biogenesis Disorders- Zellweger Spectrum disorders (PBD-ZSD). These diseases are expanding from autosomal recessive disorders to a broad range of human diseases related to peroxisomes.