Ion channels are pore-forming membrane proteins gating the flow of ions across the cell membrane. Among their many functions, ion channels regulate cell volume, control epithelial fluid secretion, and generate the electrical impulses in our brain. The Qiu Lab employs a multi-disciplinary approach including high-throughput functional genomics, electrophysiology, biochemistry, and mouse genetics to discover novel ion channels and to elucidate their role in health and disease.

The O'Connor Lab studies the molecular basis of infectious disease using Legionella pneumophila pathogenesis as a model system. We are looking at the network of molecular interactions acting at the host-pathogen interface. Specifically, we use L. pneumophila pathogenesis to examine the numerous mechanisms by which an intracellular bacterial pathogen can establish infection, how it exploits host cell machinery to accomplish this, and how individual proteins and their component pathways coordinately contribute to disease. We are also studying the role of environmental hosts in the evolution of human pathogens. Using genetics and functional genomics, we compare and contrast the repertoires of virulence proteins required for growth in a broad assortment of hosts, how the network of molecular interactions differs between hosts, and the mechanisms by which L. pneumophila copes with this variation.

Research in the Salzberg Lab focuses on the development of new computational methods for analysis of DNA from the latest sequencing technologies. Over the years, we have developed and applied software to many problems in gene finding, genome assembly, comparative genomics, evolutionary genomics and sequencing technology itself. Our current work emphasizes analysis of DNA and RNA sequenced with next-generation technology.

The Seth Blackshaw Lab uses functional genomics and proteomics to rapidly identify the molecular mechanisms that regulate cell specification and survival in both the retina and hypothalamus. We have profiled gene expression in both these tissues, from the start to the end of neurogenesis, characterizing the cellular expression patterns of more than 1,800 differentially expressed transcripts in both tissues. Working together with the lab of Heng Zhu in the Department of Pharmacology, we have also generated a protein microarray comprised of nearly 20,000 unique full-length human proteins, which we use to identify biochemical targets of developmentally important genes of interest.

The Phenotyping Core promotes functional genomics and other preclinical translational science at Johns Hopkins. We assist and collaborate in the characterization and use of genetically and phenotypically relevant animal models of disease and gene function.

The Feinberg Laboratory studies the epigenetic basis of normal development and disease, including cancer, aging and neuropsychiatric illness. Early work from our group involved the discovery of altered DNA methylation in cancer as well as common epigenetic (methylation and imprinting) variants in the population that may be responsible for a significant population-attributable risk of cancer. Over the last few years, we have pioneered the field of epigenomics (i.e., epigenetics at a genome-scale level), founding the first NIH-supported NIH epigenome center in the country and developing many novel tools for molecular and statistical analysis. Current research examines the mechanisms of epigenetic modification, the epigenetic basis of cancer, the invention of new molecular, statistical, and epidemiological tools for genome-scale epigenetics and the epigenetic basis of neuropsychiatric disease, including schizophrenia and autism.

Research in the Alan Scott Lab involves several important areas of genomics. Our team collaborates on a study to investigate the exon and genome sequence variants that determine phenotype, with a specific focus on the genetic bases of cleft lip and palate. We are also involved in assessing and improving genomic technologies to provide next-generation sequencing and analysis of sequence data to the clinical environment. In addition, we have a longstanding interest in the problem of gene annotation and the evolutionary genomics of vertebrates, especially endangered species.

Work in the Christopher Chute Lab involves the management of clinical data to enable effective evidence-based clinical practice and translational research. Recently, we developed an EHR-based genetic testing knowledge base to be integrated into the genetic testing ontology (GTO) and identified potential barriers to pharmacogenomics clinical decision support (CDS) implementation.

The Gail Geller Lab primarily conducts empirical quantitative and qualitative research on the ethical and social implications of genetic testing in the adult, pediatric and family contexts. We have focused on clinical-patient communication under conditions of uncertainty; professionalism and humanism in medical education; cross-cultural variation in concepts of health and disease; and clinician suffering and moral distress. We explore these topics in a range of health care contexts, including genomics, complementary and alternative medicine (CAM) and palliative care. Our researchers have a longstanding interest in medical socialization, provider-patient communication under conditions of uncertainty and cultural differences in attitudes toward health and disease. We also explore the intersection of CAM and bioethics, as well as the role of palliative care in chronic diseases, such as muscular dystrophy and sickle cell disease.

Research in the Casey Overby Lab focuses on the intersection of public health genomics and biomedical informatics. We’re currently developing applications to support the translation of genomic research to clinical and population-based health care settings. We’re also working to develop knowledge-based ways to use big data — including electronic health records — to improve population health.