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Displaying 1 to 8 of 8 results for phenotypes

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  • Brady Maher Laboratory

    The Brady Maher Laboratory is interested in understanding the cellular and circuit pathophysiology that underlies neurodevelopmental and psychiatric disorders. Our lab focuses on trying to understand the function of genes that are associated with neurodevelopment problems by manipulating their expression level in utero during the peak of cortical development. We then use a variety of approaches and technologies to identify resulting phenotypes and molecular mechanisms including cell and molecular biology, optogenetics, imaging and electrophysiology.

    Current projects in the lab are focused on understanding the function of transcription factor 4 (TCF4), a clinically pleiotropic gene. Genome-wide association studies have identified genetic variants of TCF4 that are associated with schizophrenia, while autosomal dominant mutations in TCF4 result in Pitt Hopkins syndrome. Using our model system, we have identified several interesting electrophysiological and cell biological phenotypes as...sociated with altering the expression of TCF4 in utero. We hypothesize that these phenotypes represent cellular pathophysiology related to these disorders and by understanding the molecular mechanisms responsible for these phenotypes we expect to identify therapeutic targets for drug development.
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    Research Areas: cell biology, neurodevelopment, imaging, schizophrenia, psychiatric disorders, Pitt Hopkins syndrome, elecrophysiology, genomics, drugs, optogenetics, molecular biology, phenotypes

  • Christopher Chute Lab

    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.

    Research Areas: pharmacogenomics, genomics, electronic health records, bioinformatics, evidence-based medicine, phenotypes

  • Clifton O. Bingham III Lab

    Research in the Clifton O. Bingham III Lab focuses on defining clinical and biochemical disease phenotypes related to therapeutic responses in rheumatoid arthritis and osteoarthritis; developing rational clinical trial designs to test new treatments; improving patient-reported outcome measures; evaluating novel imaging modalities for arthritis; and examining the role of oral health in inflammatory arthritis.

    Research Areas: biochemistry, imaging, osteoarthritis, clinical trials, inflammation, oral health, rheumatoid arthritis

    Principal Investigator

    Clifton O. Bingham, M.D.

    Department

    Medicine

  • Daniel Weinberger Laboratory

    The Daniel Weinberger Laboratory focuses on the neurobiological mechanisms of genetic risk for developmental brain disorders. We study the genetic regulation of the transcriptome in normal human brain across the human life span and in brains from patients with various psychiatric disorders. We also study the impact of genetic variation on aspects of human brain development and function linked with risk for schizophrenia and related psychiatric disorders. Our lab uses unique molecular and clinical datasets and biological materials from a large sample of families with affected and unaffected offspring and normal volunteers. These datasets include DNA, lymphoblast and fibroblast cell lines, and extensive quantitative phenotypes related to genetic risk for schizophrenia, including detailed cognitive assessments and various neuroimaging assays. In other research, we are working on a human brain transcriptome project that is RNA sequencing over 1,000 human brain samples in various regi...ons and based also on sorting of specific celliular phentypes. We are exploring the molecular processing of the gene and its implications for cognition and aspects of human temperament. view more

    Research Areas: neurobiology, brain, transcriptome, schizophrenia, psychiatric disorders, genomics, developmental disorders, RNA

  • DNA Diagnostic Lab

    Established in 1979, the Johns Hopkins DNA Diagnostic Laboratory is a CLIA and CAP certified; Maryland, New York, and Pennsylvania licensed clinical genetics testing laboratory specializing in rare inherited disorders. Led by renown professor of pediatrics and medical genetics Dr. Garry R. Cutting, the lab offers testing for a range of approximately 50 phenotypes and disorders totaling 3,500 tests annually.

    Research Areas: genetics, genetic sequencing, genetic counseling, rare inherited disorders

    Lab Website

    Principal Investigator

    Garry Cutting, M.D.

    Department

    Pediatrics

  • Gabsang Lee Lab

    Human induced pluripotent stem cells (hiPSCs) provide unprecedented opportunities for cell replacement approaches, disease modeling and drug discovery in a patient-specific manner. The Gabsang Lee Lab focuses on the neural crest lineage and skeletal muscle tissue, in terms of their fate-determination processes as well as relevant genetic disorders.

    Previously, we studied a human genetic disorder (familial dysautonomia, or FD) with hiPSCs and found that FD-specific neural crest cells have low levels of genes needed to make autonomous neurons--the ones needed for the "fight-or-flight" response. In an effort to discover novel drugs, we performed high-throughput screening with a compound library using FD patient-derived neural crest cells.

    We recently established a direct conversion methodology, turning patient fibroblasts into "induced neural crest (iNC)" that also exhibit disease-related phenotypes, just as the FD-hiPSC-derived neural crest. We're extending our research to the ne...ural crest's neighboring cells, somite. Using multiple genetic reporter systems, we identified sufficient cues for directing hiPSCs into somite stage, followed by skeletal muscle lineages. This novel approach can straightforwardly apply to muscular dystrophies, resulting in expandable myoblasts in a patient-specific manner.
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    Research Areas: stem cells, human-induced pluripotent stem cells, genomics, drugs, muscular dystrophy, familial dysautonomia

    Principal Investigator

    Gabsang Lee, Ph.D.

    Department

    Neurology

  • Nauder Faraday Lab

    The Nauder Faraday Lab investigates topics within perioperative genetic and molecular medicine. We explore thrombotic, bleeding and infectious surgical complications. Our goal is to uncover the molecular determinants of outcome in surgical patients, which will enable surgeons to better personalize a patient’s care in the perioperative period. Our team is funded by the National Institutes of Health to research platelet phenotypes, the pharmacogenomics of antiplatelet agents for preventing cardiovascular disease, and the genotypic determinants of aspirin response in high-risk families.

    Research Areas: cardiac surgery, molecular medicine, post-surgical outcomes, genomics, cardiovascular diseases, post-surgery complications

  • The Burns Lab

    Our research laboratory studies the roles mobile DNAs play in human disease. Our group was one of the first to develop a targeted method for amplifying mobile DNA insertion sites in the human genome, and we showed that these are a significant source of structural variation (Huang et al., 2010). Since that time, our group has continued to develop high throughput tools to characterize these understudied sequences in genomes and to describe the expression and genetic stability of interspersed repeats in normal and malignant tissues. We have developed a monoclonal antibody to one of the proteins encoded for by Long INterspersed Element-1 (LINE-1) and showed its aberrant expression in a wide breadth of human cancers (Rodi? et al., 2014). We have demonstrated acquired LINE-1 insertion events during the evolution of metastatic pancreatic ductal adenocarcinoma and other gastrointestinal tract tumors (Rodi? et al., 2015). We have major projects focused on studying functional consequences of inh...erited sequence variants, and exciting evidence that these predispose to cancer risk and other disease phenotypes. Our laboratory is using a combination of genome wide association study (GWAS) analyses, custom RNA-seq analyses, semi-high throughput gene expression reporter assays, and murine models to pursue this hypothesis. view less

    Research Areas: cancer, DNA, malignant tumors

    Lab Website

    Principal Investigator

    Kathleen Burns, M.D., Ph.D.

    Department

    Pathology

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