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Displaying 1 to 20 of 37 results for genetics

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  • Becker Lab

    The main focus of the Becker lab has been on the mechanisms and consequences of post-ischemic myocardial inflammation.

    Genomic control of platelet function:

    Aggregation of blood platelets initiates clotting in coronary arteries, the main cause of heart attacks. Our laboratory conducts experiments to understand how genes control platelet function. Through funding by the National Heart Lung and Blood Institute, we have performed candidate gene analysis, linkage studies, whole genome association studies, and now whole genome sequencing in about 2000 healthy subjects from families with early onset coronary artery disease. The subjects are siblings or offspring of an individual identified with coronary artery disease before age 60 in the GeneSTAR Research Program (Genetic Studies of Atherosclerosis Risk). We have identified a large number of common and rare genetic variants associated with platelet aggregation, and although some variants are located in genes known to be important in... the biology of platelet function, most are in non-protein coding regions of genes (introns) or in intergenic regions of the genome. To understand better how these variants influence platelet function, we created pluripotent stem cells from blood mononuclear cells in 257 genotyped GeneSTAR subjects and then transformed the stem cells to megakaryocytes, the source of platelets in the bone marrow. We have determined the entire transcriptome of these megakaryocytes to measure gene expression levels in an effort to functionally link genetic variation with platelet function. We are also interested in epigenetic effects which regulate the amount of gene transcription and resulting protein formation. We have done similar transcriptomic and proteomic studies in blood platelets as we have in stem cell-derived megakaryocytes.

    Our goal is to identify new therapeutic targets for drug development to control excessive platelet aggregation and reduce the risk of heart attack in susceptible individuals. We also hope to use the genetic information to predict who is at greatest risk for platelet aggregation or bleeding, and tailor treatment to effectively apply individualized precision medicine.

    The Becker laboratory also extends its cardiovascular work well beyond platelet function, as noted on the GeneSTAR Research Program website.
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    Research Areas: post-ischemic myocardial inflammation, effects of mental stress on the heart, cardiology, genetics of premature coronary artery disease, myocardial infarction

    Lab Website

    Principal Investigator

    Lewis Becker, M.D.

    Department

    Medicine

  • Cammarato Lab

    The Cammarato Lab is located in the Division of Cardiology in the Department of Medicine at the Johns Hopkins University School of Medicine. We are interested in basic mechanisms of striated muscle biology.

    We employ an array of imaging techniques to study “structural physiology” of cardiac and skeletal muscle. Drosophila melanogaster, the fruit fly, expresses both forms of striated muscle and benefits greatly from powerful genetic tools. We investigate conserved myopathic (muscle disease) processes and perform hierarchical and integrative analysis of muscle function from the level of single molecules and macromolecular complexes through the level of the tissue itself.

    Anthony Ross Cammarato, MD, is an assistant professor of medicine in the Cardiology Department. He studies the identification and manipulation of age- and mutation-dependent modifiers of cardiac function, hierarchical modeling and imaging of contractile machinery, integrative analysis of striated muscle performan...ce and myopathic processes. view more

    Research Areas: muscle development, genetics, myopathic processes, striated muscle biology, muscle function, myopathy, muscle physiology

    Lab Website

    Principal Investigator

    Anthony Cammarato, Ph.D.

    Department

    Medicine

  • Dhananjay Vaidya Lab

    Research conducted in the Dhananjay Vaidya Lab focuses on the prevention of heart disease, with special emphasis on cardiometabolic risk factors, genetics in high-risk families, cardiovascular epidemiology, statistics and vascular biology. We also provide consultation on study design as well as plan and oversee data analyses for projects supported by the Center for Child and Community Health Research.

    Research Areas: heart disease, epidemiology, data analysis, cardiometabolic risk factors, statistics, study design, cardiovascular, genomics, vascular biology

    Principal Investigator

    Jay Vaidya, M.B.B.S., M.P.H., Ph.D.

    Department

    Medicine

  • 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

  • Dong Laboratory

    The Dong Laboratory has identified many genes specifically expressed in primary sensory neurons in dorsal root ganglia (DRG). Our lab uses multiple approaches, including molecular biology, mouse genetics, mouse behavior and electrophysiology, to study the function of these genes in pain and itch sensation. Other research in the lab examines the molecular mechanism of how skin mast cells sensitize sensory nerves under inflammatory states.

    Research Areas: skin cells, electrophysiology, genetics, itch, neuroscience, pain, molecular biology

    Lab Website

    Principal Investigator

    Xinzhong Dong, Ph.D.

    Department

    Neuroscience

  • Early Detection of Pancreatic Cancer Laboratory

    The goal of the lab's research is to identify molecular abnormalities that can improve the outcome of patients with pancreatic cancer and those at risk of developing this disease. Much of our work is focused on translational research evaluating markers and marker technologies that can help screen patients with an increased risk of developing pancreatic cancer.

    Thus, marker efforts have been focused mostly on identifying markers of advanced precancerous neoplasia (PanINs and IPMNs) that could improve our ability to effectively screen patients at risk of developing pancreatic cancer. We lead or participate in a number of clinical research protocols involved in the screening and early detection of pancreatic neoplasia including the CAPS clinical trials. We maintain a large repository of specimens from cases and controls with and without pancreatic disease and use this repository to investigate candidate markers of pancreatic cancer for their utility to predict pancreatic cancer risk.
    ...
    In addition, we have been working to identify familial pancreatic cancer susceptibility genes and identified BRCA2 as a pancreatic cancer susceptibility gene in 1996. We participate in the PACGENE consortium and the familial pancreatic cancer sequencing initiative. My lab also investigates pancreatic cancer genetics, epigenetics, molecular pathology, tumor stromal interactions and functional analysis of candidate genes and miRNAs. Dr. Goggins is the principal investigator of a phase I/II clinical trial evaluating the Parp inhibitor, olaparib along with irinotecan and cisplatin for patients with pancreatic cancer.
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    Research Areas: pancreatic cancer

    Lab Website

    Principal Investigator

    Michael Goggins, M.B.B.Ch., M.D.

    Department

    Medicine

  • GI Early Detection Biomarkers Lab

    Dr. Meltzer is an internationally renowned leader in the molecular pathobiology of gastrointestinal malignancy and premalignancy. He invented molecular methods to detect loss of heterozygosity in tiny biopsies, triggering an avalanche of research on precancerous lesions. He was the first to comprehensively study coding region microsatellite instability, leading to the identification of several important tumor suppressor genes. He performed several groundbreaking genomic, epigenomic and bioinformatic studies of esophageal and colonic neoplasms, shifting the GI research paradigm toward genome-wide approaches. He directed an ambitious nationwide validation study of DNA methylation-based biomarkers for the prediction of neoplastic progression in Barrett’s esophagus.

    Dr. Meltzer founded and led the Aerodigestive Cancer and Biomarker Interdisciplinary Programs at the University of Maryland, also becoming associate director for core sciences at that school’s Cancer Center. He currently hol...ds an endowed professorship and is the director of GI biomarker research at Johns Hopkins.

    The laboratory group focuses its efforts on the molecular genetics of gastrointestinal cancers and premalignant lesions, as well as on translational research to improve early detection, prognostic evaluation, and treatment of these conditions. Below, some examples of this work are described.
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    Research Areas: gastrointestinal cancer, gastrointestinal

    Principal Investigator

    Stephen Meltzer, M.D.

    Department

    Medicine

  • Howard Levy Lab

    Research interests in the Howard Levy Lab center on the integration of genetics into primary care, education of non-geneticist providers about genetics, and the natural history and management of Ehlers-Danlos syndrome and related disorders of connective tissue.

    Research Areas: primary care, tissue connectivity disorders, genomics, Ehlers-Danlos syndrome

    Principal Investigator

    Howard Levy, M.D., Ph.D.

    Department

    Medicine

  • Huang Laboratory

    Our lab is interested in understanding the fundamental mechanisms of how cells move and implications in disease treatment. We use an interdisciplinary approach involving fluorescent live cell imaging, genetics, and computer modeling to study the systems level properties of the biochemical networks that drive cell migration.

    Research Areas: pathology

    Lab Website

    Principal Investigator

    Chuan-Hsiang Huang, M.D., Ph.D.

    Department

    Pathology

  • James Hamilton Lab

    The main research interests of the James Hamilton Lab are the molecular pathogenesis of hepatocellular carcinoma and the development of molecular markers to help diagnose and manage cancer of the liver. In addition, we are investigating biomarkers for early diagnosis, prognosis and response to various treatment modalities. Results of this study will provide a molecular classification of HCC and allow us to identify targets for chemoprevention and treatment. Specifically, we extract genomic DNA and total RNA from liver tissues and use this genetic material for methylation-specific PCR (MSP), cDNA microarray, microRNA microarray and genomic DNA methylation array experiments.

    Research Areas: cancer, molecular genetics, genomics, pathogenesis, liver diseases, hepatocellular carcinoma

    Principal Investigator

    James Hamilton, M.D.

    Department

    Medicine

  • Josef Coresh Lab

    Research in the Josef Coresh Lab focuses on cardiovascular epidemiology, kidney disease and genetic epidemiology. Our team uses innovative methods to quantify disease burden and consequences in the population; studies the causes and consequences of vascular disease in the heart, kidneys and brain; and works to develop a strong scientific basis for quantifying the burden, causes and consequences of kidney disease. Working in collaboration with leading laboratories and specialists, we also aim to quantify the interplay of genes and environment in health and disease.

    Research Areas: epidemiology, genetics, kidney diseases, cardiovascular, vascular diseases

    Principal Investigator

    Josef Coresh, M.D., Ph.D.

    Department

    Medicine

  • Joseph Mankowski Lab

    The Joseph Mankowski Lab studies the immunopathogenesis of HIV infection using the SIV/macaque model. Our researchers use a multidisciplinary approach to dissect the mechanism underlying HIV-induced nervous system and cardiac diseases. Additionally, we study the role that host genetics play in HIV-associated cognitive disorders.

    Research Areas: macaques, HIV, genomics, SIV, pathogenesis, cardiology, nervous system

    Principal Investigator

    Joseph L. Mankowski, D.V.M., Ph.D.

    Department

    Molecular and Comparative Pathobiology

  • Kenneth W. Kinzler Laboratory

    Dr. Kinzler’s laboratory has focused on the genetics of human cancer. They have identified a variety of genetic mutations that underlie cancer, including mutations of the APC pathway that appear to initiate the majority of colorectal cancers and IDH1/2 mutations that underlying many gliomas. In addition, they have developed a variety of powerful tools for analysis of expression and genetic alterations in cancer.
    Most recently, they have pioneered integrated whole genome analyses of human cancers through expression, copy number, and mutational analyses of all the coding genes in several human cancer types including colorectal, breast, pancreatic and brain. The identification of genetic differences between normal and tumor tissues provide new therapeutic targets, new opportunities for the early diagnosis of cancer, and important insights into the neoplastic process.

    Research Areas: cancer, molecular genetics

    Lab Website

    Principal Investigator

    Kenneth Kinzler, Ph.D.

    Department

    Oncology

  • Li Gao Lab

    The Li Gao Lab researches functional genomics, molecular genetics and epigenetics of complex cardiopulmonary and allergic diseases, with a focus on translational research applying fundamental genetic insight into the clinical setting. Current research includes implementation of high-throughput technologies in the fields of genome-wide association studies (GWAS), massively parallel sequencing, gene expression analysis, epigenetic mapping and integrative genomics in ongoing research of complex lung diseases and allergic diseases including asthma, atopic dermatitis (AD), pulmonary arterial hypertension, COPD, sepsis and acute lung injury/ARDS; and epigenetic contributions to pulmonary arterial hypertension associated with systemic sclerosis.

    Research Areas: pulmonary arterial hypertension, molecular genetics, cardiopulmonary diseases, asthma, epigenetics, complex lung disease, allergies, genomics, COPD, atopic dermatitis

    Principal Investigator

    Li Gao, M.D., Ph.D.

    Department

    Medicine

  • Michael Mingzhao Xing Lab

    Investigators in the Michael Mingzhao Xing Lab study the cellular and molecular mechanisms of thyroid cancer, including its genetic and epigenetic alterations and related cellular behaviors. We are particularly interested in exploring cellular and molecular derangements associated with the MAP kinase and PI3K/Akt pathways as a fundamental mechanism in thyroid tumorigenesis. The clinical translation of research findings is an important focus for us. Examples include the team’s demonstrations of the prognostic value of the BRAF mutation for risk stratification of thyroid cancer, as well as its preoperative value when tested on thyroid fine-needle biopsy specimens.

    Research Areas: thyroid cancer, molecular genetics, epigenetics, genomics

    Lab Website

    Principal Investigator

    Michael Xing, M.D., Ph.D.

    Department

    Medicine

  • Mihail Zilbermint Lab

    Research in the Mihail Zilbermint Lab focuses on diabetes, adrenal disease and thyroid disease. Recent areas of focus include pseudohypoaldosteronism type 1 related to novel variants of SCNN1B gene, genetic variance in the ARMC5 gene in primary macronodular adrenocortical hyperplasia and hyperaldosteronism due to de novo KCNJ5 mutation.

    Research Areas: hypoaldosteronism, genetics, tumor, diabetes, hyperplasia, protein kinases

    Principal Investigator

    Mihail Zilbermint, M.D.

    Department

    Medicine

  • Molecular Genetics Laboratory of Female Reproductive Cancer

    The long-term objectives of our research team are:

    a. to understand the molecular etiology in the development of human cancer, and
    b. to identify and characterize cancer molecules for cancer detection, diagnosis, and therapy.

    We use ovarian carcinoma as a disease model because it is one of the most aggressive neoplastic diseases in women. For the first research direction, we aim to identify and characterize the molecular alterations during initiation and progression of ovarian carcinomas.

    Research Areas: genetics, diagnostic pathology, ovarian cancer, gestational trophoblastic diseases

    Lab Website

    Principal Investigator

    Ie-Ming Shih, M.D., Ph.D.

    Department

    Pathology

  • Nathaniel Comfort Lab

    Research in the Nathaniel Comfort Lab looks at the history of biology. Areas of particular interest include heredity and health in 20th century America, genetics, molecular biology, biomedicine, the history of recent science, oral history and interviewing.

    Research Areas: biomedicine, history of biology, genomics, history of medicine, molecular biology

  • O'Connor Lab

    How do brain dynamics give rise to our sensory experience of the world? The O'Connor lab works to answer this question by taking advantage of the fact that key architectural features of the mammalian brain are similar across species. This allows us to leverage the power of mouse genetics to monitor and manipulate genetically and functionally defined brain circuits during perception. We train mice to perform simple perceptual tasks. By using quantitative behavior, optogenetic and chemical-genetic gain- and loss-of-function perturbations, in vivo two-photon imaging, and electrophysiology, we assemble a description of the relationship between neural circuit function and perception. We work in the mouse tactile system to capitalize on an accessible mammalian circuit with a precise mapping between the sensory periphery and multiple brain areas. Our mission is to reveal the neural circuit foundations of sensory perception; to provide a framework to understand how circuit dysfunction causes ...mental and behavioral aspects of neuropsychiatric illness; and to help others fulfill creative potential and contribute to human knowledge. view more

    Research Areas: brain, mental illness, neuroscience, perception

    Lab Website

    Principal Investigator

    Daniel O'Connor, M.A., Ph.D.

    Department

    Neuroscience

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