Dustin Baldridge, MD, PhD
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.
Patricia Dickson, MD
The Dickson laboratory studies the mucopolysaccharidosis (MPS) disorders, which are lysosomal enzyme deficiencies affecting the catabolism of glycosaminoglycans. Central nervous system manifestations include progressive intellectual disability, communicating hydrocephalus, dysmyelination, spinal cord compression, and cortical atrophy. Our lab studies cerebrospinal fluid delivery of recombinant enzymes to treat central nervous disease due to MPS, and has demonstrated biodistribution of intrathecally-delivered recombinant enzymes throughout the neuroaxis of MPS models, with correction of lysosomal storage. The laboratory also studies neuroimaging and neuropathology of white matter in MPS brain and the humoral immune responses to therapeutic enzymes. Projects range from bench to bedside including clinical trials.
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.
Jonathan D. Cooper, PhD
The Pediatric Storage Disorders Lab (PDSL), studies the pathogenesis of the neuronal ceroid lipofuscinoses (NCLs, or Batten disease), and other similar neurodegenerative lysosomal storage disorders.
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.
Marwan Shinawi, MD
The research of Marwan Shinawi, MD, focuses on clinical genomics and the application of exome and genome sequencing as well as microarray analysis for disease gene discovery of undiagnosed genetic syndromes.