Baldridge Lab
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.
Dickson Lab
Patricia Dickson, MD
The Dickson laboratory focuses on mucopolysaccharidosis (MPS) disorders, which are caused by lysosomal enzyme deficiencies that impair the breakdown of glycosaminoglycans. These disorders lead to several central nervous system issues, such as progressive intellectual disability, communicating hydrocephalus, dysmyelination, spinal cord compression and cortical atrophy.
Greer Lab
Eric L. Greer, MD, PhD
The Greer lab is interested in how non-genetic information, termed epigenetics, regulates complex physiological and pathological phenotypes across generations.
Pediatric Storage Disorders Lab
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.
Sardiello Lab
Marco Sardiello, PhD
Our lab is primarily focused on medical genetics. Building on the foundation established by the Human Genome Project, we continuously work to characterize un-annotated genes and proteins associated with hereditary disorders.
Shinawi lab
Mirawan Shinawi, MD
Shinawi’s special interests are in genomics and genomic disorders, cytogenetic abnormalities, microarray technology, skeletal dysplasia, the genetic basis of autism and metabolic conditions. He is using reverse genomics to characterize the phenotypes of genomic disorders with special focus on 16p11.2 rearrangements. He is working to develop novel methods for detection of metabolic conditions. Shinawi is co-director of the Women and Infants’ Health Specimen Consortium (WIHSC) and is investigating metabolomics and feto-maternal interaction during pregnancy.