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Research Lab Results for genetics

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  • Anne Murphy Laboratory

    Principal Investigator:
    Anne Murphy, M.D.
    Medicine
    Pediatrics

    Anne Murphy’s laboratory studies cardiomyopathy and key proteins that are part of the contracti...le apparatus. The team is looking at how modifications to these proteins might affect various diseases and heart failure. She also investigates the role of genetics in pediatric heart failure associated with acute heart failure, which is sometimes attributed to myocarditis. Her laboratory has received grants from the American Heart Association, the National Institutes of Health and the Children’s Cardiomyopathy Foundation. Murphy received the Rowe Award for Cardiology Research from the Society for Pediatric Research and other awards. Her research on the molecular basis of myocardial stunning was named one of the top 10 research achievements for 1999 by the American Heart Association. view more

    Research Areas: pediatric cardiology, cardiomyopathy
  • Brain Tumor Cancer Genetics Lab

    Lab Website

    The lab explores the genetic underpinnings that drive the pathogenesis of a variety of primary ...central nervous system neoplasms. We are interested in exploiting genetic changes for both diagnostic and therapeutic purposes. Our lab is currently working on understanding the extreme responders and extreme clinical phenotypes of brain and spinal cord tumors to identify factors that may modulate responses to therapy. view more

    Research Areas: brain tumor genetics, brain tumor
  • Brain Tumor Laboratory

    Lab Website
    Principal Investigator:
    Henry Brem, M.D.
    Neurology
    Neurosurgery

    At the brain tumor laboratory, Henry Brem, M.D. and Betty Tyler, along with more than 350 train...ees, have conducted scientific research, contributed to scientific literature, amended clinical practice, and illuminated new pathways for improving clinical outcomes.



    The laboratory has advanced the understanding of gene therapy, angiogenesis, intracranial implantation of biodegradable polymers to treat malignant glioma, tumor genetics and proteomics, microchip drug delivery and drug resistance studies. Dr. Brem and his colleagues have designed and led many multi-institutional clinical trials to improve and expand the range of therapeutic options for patients with brain tumors.
    view more

    Research Areas: brain tumor drug delivery, brain tumor
  • 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. view more

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

    Lab Website
    Principal Investigator:
    Garry Cutting, M.D.
    Pediatrics

    Established in 1979, the Johns Hopkins DNA Diagnostic Laboratory is a CLIA and CAP certified; M...aryland, 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. view more

    Research Areas: genetics, genetic sequencing, genetic counseling, rare inherited disorders
  • Dong Laboratory

    Lab Website
    Principal Investigator:
    Xinzhong Dong, Ph.D.
    Neuroscience

    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. view more

    Research Areas: skin cells, electrophysiology, genetics, itch, neuroscience, pain, molecular biology
  • Early Detection of Pancreatic Cancer Laboratory

    Lab Website
    Principal Investigator:
    Michael Goggins, M.B.B.Ch., M.D.
    Medicine

    The goal of the lab's research is to identify molecular abnormalities that can improve the outc...ome 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.
    view more

    Research Areas: pancreatic cancer
  • GI Early Detection Biomarkers Lab

    Principal Investigator:
    Stephen Meltzer, M.D.
    Medicine

    Dr. Meltzer is an internationally renowned leader in the molecular pathobiology of gastrointest...inal 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 holds 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.
    view more

    Research Areas: gastrointestinal cancer, gastrointestinal
  • Howard Levy Lab

    Principal Investigator:
    Howard Levy, M.D., Ph.D.
    Medicine

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

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

    Lab Website
    Principal Investigator:
    Chuan-Hsiang Huang, M.D., Ph.D.
    Pathology

    Our lab is interested in understanding the fundamental mechanisms of how cells move and implica...tions 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. view more

    Research Areas: pathology
  • Joseph Mankowski Lab

    Principal Investigator:
    Joseph L. Mankowski, D.V.M., Ph.D.
    Molecular and Comparative Pathobiology

    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. view more

    Research Areas: macaques, HIV, genomics, SIV, pathogenesis, cardiology, nervous system
  • Kenneth W. Kinzler Laboratory

    Lab Website
    Principal Investigator:
    Kenneth Kinzler, Ph.D.
    Oncology

    Dr. Kinzler’s laboratory has focused on the genetics of human cancer. They have identified a va...riety 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.
    view more

    Research Areas: cancer, molecular genetics
  • Li Gao Lab

    Principal Investigator:
    Li Gao, M.D., Ph.D.
    Medicine

    The Li Gao Lab researches functional genomics, molecular genetics and epigenetics of complex ca...rdiopulmonary 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. view more

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

    The Caterina lab is focused on dissecting mechanisms underlying acute and chronic pain sensatio...n. We use a wide range of approaches, including mouse genetics, imaging, electrophysiology, behavior, cell culture, biochemistry and neuroanatomy to tease apart the molecular and cellular contributors to pathological pain sensation. A few of the current projects in the lab focus on defining the roles of specific subpopulations of neuronal and non-neuronal cells to pain sensation, defining the role of RNA binding proteins in the development and maintenance of neuropathic pain, and understanding how rare skin diseases known as palmoplantar keratodermas lead to severe pain in the hands and feet. view more

    Research Areas: biophysics, biochemistry, proteomics, inflammation, pain
  • Molecular Genetics Laboratory of Female Reproductive Cancer

    Lab Website
    Principal Investigator:
    Ie-Ming Shih, M.D., Ph.D.
    Pathology

    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.
    view more

    Research Areas: genetics, diagnostic pathology, ovarian cancer, gestational trophoblastic diseases
  • O'Connor Lab

    Lab Website
    Principal Investigator:
    Daniel O'Connor, Ph.D., M.A.
    Neuroscience

    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
  • Rasika Mathias Lab

    Principal Investigator:
    Rasika Mathias, Sc.D.
    Medicine

    Research in the Rasika Mathias Lab focuses on the genetics of asthma in people of African ances...try. Our work led to the first genomewide association study of its kind in 2009. Currently, we are analyzing the whole-genome sequence of more than 1,000 people of African ancestry from the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA). CAAPA’s goal is to use whole-genome sequencing to expand our understanding of how genetic variants affect asthma risk in populations of African ancestry and to provide a public catalog of genetic variation for the scientific community. We’re also involved in the study of coronary artery disease though the GeneSTAR Program, which aims to identify mechanisms of atherogenic vascular diseases and attendant comorbidities. view more

    Research Areas: heart disease, African Americans, asthma, genomics, health disparities
  • Retrovirus Laboratory

    Principal Investigator:
    Janice Clements, Ph.D.
    Molecular and Comparative Pathobiology

    Research in the Retrovirus Laboratory focuses on the molecular virology and pathogenesis of len...tivirus infections. In particular, we study the simian immunodeficiency virus (SIV) to determine the molecular basis for the development of HIV CNS, pulmonary and cardiac disease.

    Research projects include studies of viral molecular genetics and host cell genes and proteins involved in the pathogenesis of disease. We are also interested in studies of lentivirus replication in macrophages and astrocytes and their role in the development of disease. These studies have led us to identify the viral genes that are important in neurovirulence of SIV and the development of CNS disease including NEF and the TM portion of ENV. The mechanisms of the action of these proteins in the CNS are complex and are under investigation. We have also developed a rapid, consistent SIV/macaque model in which we can test the ability of various antiviral and neuroprotective agents to reduce the severity of CNS and pulmonary disease.
    view more

    Research Areas: HIV, genomics, pulmonology, SIV, cardiology, lentivirus
  • Ryuya Fukunaga Lab

    The Fukunaga Lab uses multidisciplinary approaches to understand the cell biology, biogenesis a...nd function of small silencing RNAs from the atomic to the organismal level.

    The lab studies how small silencing RNAs, including microRNAs (miRNAs), small interfering RNAs (siRNAs) and piwi-interacting RNAs (piRNAs), are produced and how they function. Mutations in the small RNA genes or in the genes involved in the RNA pathways cause many diseases, including cancers. We use a combination of biochemistry, biophysics, fly genetics, cell culture, X-ray crystallography and next-generation sequencing to answer fundamental biological questions and also potentially lead to therapeutic applications to human diseases.
    view more

    Research Areas: biophysics, biochemistry, cell biology, cell culture, genomics, RNA
  • Shanthini Sockanathan Laboratory

    Lab Website

    The Shanthini Sockanathan Laboratory uses the developing spinal cord as our major paradigm to d...efine the mechanisms that maintain an undifferentiated progenitor state and the molecular pathways that trigger their differentiation into neurons and glia. The major focus of the lab is the study of a new family of six-transmembrane proteins (6-TM GDEs) that play key roles in regulating neuronal and glial differentiation in the spinal cord. We recently discovered that the 6-TM GDEs release GPI-anchored proteins from the cell surface through cleavage of the GPI-anchor. This discovery identifies 6-TM GDEs as the first vertebrate membrane bound GPI-cleaving enzymes that work at the cell surface to regulate GPI-anchored protein function. Current work in the lab involves defining how the 6-TM GDEs regulate cellular signaling events that control neuronal and glial differentiation and function, with a major focus on how GDE dysfunction relates to the onset and progression of disease. To solve these questions, we use an integrated approach that includes in vivo models, imaging, molecular biology, biochemistry, developmental biology, genetics and behavior. view more

    Research Areas: glia, biochemistry, neurons, imaging, developmental biology, genomics, spinal cord, behavior, molecular biology
  • Srinivasan Yegnasubramanian Lab

    Lab Website

    Dr. Yegnasubramanian directs a Laboratory of Cancer Molecular Genetics and Epigenetics at the S...idney Kimmel Comprehensive Cancer Center (SKCCC), and is also the Director of the SKCCC Next Generation Sequencing Center.


    Our lab research is focused on understanding the complex interplay between genetic and epigenetic alterations in carcinogenesis and disease progression, and to exploit this understanding in developing novel biomarkers for diagnosis and risk stratification as well as in identifying targets for therapeutic intervention.
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    Research Areas: cancer therapies, biomarkers, genetics, cancer, epigenetics
  • Tamara O'Connor Lab

    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.
    view more

    Research Areas: infectious disease, Legionella pneumophila, genomics, pathogenesis, molecular biology
  • The Arking Lab

    Principal Investigator:
    Dan Arking, Ph.D.
    Medicine

    The Arking Lab studies the genomics of complex human disease, with the primary goal of identify...ing and characterizing genetics variants that modify risk for human disease. The group has pioneered the use of genome-wide association studies (GWAS), which allow for an unbiased screen of virtually all common genetic variants in the genome. The lab is currently developing improved GWAS methodology, as well as exploring the integration of additional genome level data (RNA expression, DNA methylation, protein expression) to improve the power to identify specific genetic influences of disease.

    The Arking Lab is actively involved in researching:
    • autism, a childhood neuropsychiatric disorder
    • cardiovascular genomics, with a focus on electrophysiology and sudden cardiac death (SCD)
    • electrophysiology is the study of the flow of ions in biological tissues

    Dan E. Arking, PhD, is an associate professor at the McKusick-Nathans Institute of Genetic Medicine and Department of Medicine, Division of Cardiology, Johns Hopkins University.
    view more

    Research Areas: autism, genetics, aging, cardiovascular diseases, sudden cardiac death
  • The Bigos Lab

    The Bigos Lab focuses on a Precision Medicine approach to the treatment of psychiatric illness.... In addition, this lab employs functional neuroimaging and genetics as biomarkers in neuropsychiatric drug development. A recent study used functional MRI to test the neural effects of a drug with the potential to treat cognitive dysfunction in schizophrenia. Other studies aim to identify patient-specific variables including sex, race, and genetics that impact drug clearance and clinical response to better select and dose antipsychotics and antidepressants. view more

    Research Areas: cognition, brain disorders, schizophrenia, mental illness, fMRI, pharmacogenomics, neuroimaging
  • The Hillel Lab

    Lab Website

    The Hillel Laboratory at Johns Hopkins investigates inflammatory, genetic, and molecular factor...s involved with laryngotracheal stenosis, or scar formation in the airway. Specifically, we are examining the interrelationship between genetics, the immune system, bacteria, and scar formation in the airway. The lab has developed unique models to study laryngotracheal stenosis and test drugs that may halt the progression of scar or reverse scar formation. We are also developing a drug-eluting stent to treat patients with laryngotracheal stenosis. view more

    Research Areas: complex airway disorders, laryngotracheal stenosis
  • Zhaozhu Qiu Laboratory

    Lab Website
    Principal Investigator:
    Zhaozhu Qiu, Ph.D.
    Neuroscience
    Physiology

    Ion channels are pore-forming membrane proteins gating the flow of ions across the cell membran...e. 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. view more

    Research Areas: ion channel, neurological disease, electrophysiology, functional genomics, sensory neuroscience
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