Genetics & Genomic Medicine

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.

Research profile

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.

Research profile

The Greer lab is interested in how non-genetic information, termed epigenetics, regulates complex physiological and pathological phenotypes across generations.

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.

Research profile

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.

Research profile

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.

Research profile