Genetics and Genomic Medicine | Research
View our Research in the area of Genetics and Genomic Medicine at Washington University in St. Louis.
Beth Kozel, MD, PhD
The goal of the research in the Kozel laboratory is to identify the genetic and environmental factors responsible for the variability of Williams Syndrome so as to influence the treatment of patients with these conditions.
Jonathan D. Cooper, PhD
The laboratory studies the pathogenesis of the neuronal ceroid lipofuscinoses (NCLs, or Batten disease), and other similar neurodegenerative lysosomal storage disorders.
Patricia Dickson, MD
The laboratory studies pathogenesis and therapy development for central nervous system disease due to mucopolysaccharidosis.
Catherine Gooch, MD
Gooch's main research interests are clinically studying skeletal dysplasias and orofacial clefting. She has a particular interest in disorders of FGFR3, such as achondroplasia and hypochondroplasia, as well as collagenopathies.
Marco Sardiello, PhD
The laboratory uses genetics, cell biology, and systems biology approaches to study how the cell regulates its metabolic programs and how dysfunctions in these programs lead to neurological disease. Our ultimate goal is to translate knowledge of these regulatory networks into therapeutic approaches for neurodegenerative disorders.
Dustin Baldridge, MD
The laboratory focuses on genomic medicine and functional genomics, implementing experimental and informatics approaches to solve a fundamental problem in human genetics, namely the overwhelming number of Variants of Uncertain Significance (VUS) generated via exome and genome sequencing.