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  • Alan Scott Lab

    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.

    Research Areas: evolutionary genomics, sequence analysis, genomics, genome annotation, genomic technologies, cleft lip and palate

    Principal Investigator

    Alan Scott, Ph.D.

    Department

    Medicine

  • Alison Moliterno Lab

    The Alison Moliterno Lab studies the molecular pathogenesis of myeloproliferative disorders (MPDs), including polycythemia vera, essential thrombocytosis and idiopathic myelofibrosis. Our research is focused on the genetic and epigenetic lesions associated with MPDs, with the goal of improving diagnosis and treatment for these disorders.

    Research Areas: blood disorders, idiopathic myelofibrosis, essential thrombocytosis, epigenetics, genomics, polycythemia vera, myeloproliferative disorders

    Principal Investigator

    Alison Moliterno, M.D.

    Department

    Medicine

  • Andrew Feinberg Laboratory

    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 Areas: autism, cancer, epigenetics, schizophrenia, human development, aging, DNA, genomics, neuropsychiatric disease

    Lab Website

    Principal Investigator

    Andrew Feinberg, M.D., M.P.H.

    Department

    Medicine

  • Andrew McCallion Laboratory

    The McCallion Laboratory studies the roles played by cis-regulatory elements (REs) in controlling the timing, location and levels of gene activation (transcription). Their immediate goal is to identify transcription factor binding sites (TFBS) combinations that can predict REs with cell-specific biological control--a first step in developing true regulatory lexicons.

    As a functional genetic laboratory, we develop and implement assays to rapidly determine the biological relevance of sequence elements within the human genome and the pathological relevance of variation therein. In recent years, we have developed a highly efficient reporter transgene system in zebrafish that can accurately evaluate the regulatory control of mammalian sequences, enabling characterization of reporter expression during development at a fraction of the cost of similar analyses in mice. We employ a range of strategies in model systems (zebrafish and mice), as well as analyses in the human population, to illu...minate the genetic basis of disease processes. Our long-term objective is to use these approaches in contributing to improved diagnostic, prognostic and therapeutic strategies in patient care. view more

    Research Areas: cell biology, genomics, gene regulation, nervous system

    Principal Investigator

    Andrew McCallion, Ph.D.

    Department

    Molecular and Comparative Pathobiology

  • Beer Lab

    The goal of research in the Beer Lab is to understand how gene regulatory information is encoded in genomic DNA sequence. Our work uses functional genomics DNase-seq, ChIP-seq, RNA-seq, and chromatin state data to computationally identify combinations of transcription factor binding sites that operate to define the activity of cell-type specific enhancers. We are currently focused on improving SVM methodology by including more general sequence features and constraints predicting the impact of SNPs on enhancer activity (delta-SVM) and GWAS association for specific diseases, experimentally assessing the predicted impact of regulatory element mutation in mammalian cells, systematically determining regulatory element logic from ENCODE human and mouse data, and using this sequence based regulatory code to assess common modes of regulatory element evolution and variation.

    Research Areas: computational biology, biomedical engineering, DNA, genomics, RNA

  • Berger Lab

    The Berger Lab's research is focused on understanding how multi-subunit assemblies use ATP for overcoming topological challenges within the chromosome and controlling the flow of genetic information. A long-term goal is to develop mechanistic models that explain in atomic level detail how macromolecular machines transduce chemical energy into force and motion, and to determine how cells exploit and control these complexes and their activities for initiating DNA replication, shaping chromosome superstructure and executing myriad other essential nucleic-acid transactions.

    Our principal approaches include a blend of structural (X-ray crystallography, single-particle EM, SAXS) and solution biochemical methods to define the architecture, function, evolution and regulation of biological complexes. We also have extensive interests in mechanistic enzymology and the study of small-molecule inhibitors of therapeutic potential, the development of chemical approaches to trapping weak protein/p...rotein and protein/nucleic acid interactions, and in using microfluidics and single-molecule approaches for biochemical investigations of protein dynamics. view more

    Research Areas: biochemistry, proteomics, ATP, DNA, genomics

  • Bert Vogelstein Laboratory

    The Bert Vogelstein Laboratory seeks to develop new approaches to the prevention or treatment of cancers through a better understanding of the genes and pathways underlying their pathogenesis.

    Our major focus is on cancers of the colon and rectum. We have shown that each colon neoplasm arises from a clonal expansion of one transformed cell. This expansion gives rise to a small benign colon tumor (called a polyp or adenoma). This clonal expansion and subsequent growth of the tumors appears to be caused by mutations in oncogenes and tumor suppressor genes, and the whole process is accelerated by defects in genes required for maintaining genetic instability. Mutations in four or five such genes are required for a malignant tumor to form, while fewer mutations suffice for benign tumorigenesis. As the mutations accumulate, the tumors become progressively more dangerous.

    Current studies are aimed at the further characterization of the mechanisms through which these genes act, the ident...ification of other genes that play a role in this tumor type, and the application of this knowledge to patient management. view more

    Research Areas: rectal cancer, colon cancer, genomics, pathogenesis

    Lab Website

    Principal Investigator

    Bert Vogelstein, M.D.

    Department

    Oncology

  • 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.
    view more

    Research Areas: cell biology, neurodevelopment, imaging, schizophrenia, psychiatric disorders, Pitt Hopkins syndrome, elecrophysiology, genomics, drugs, optogenetics, molecular biology, phenotypes

  • Carlo Colantuoni Laboratory

    Dr. Colantuoni and his colleagues explore human brain development and molecular mechanisms that give rise to risk for complex brain disease. His team uses genomic technologies to examine human brain tissue as well as stem models and vast public data resources.

    Research Areas: stem cells, brain tissue, brain development, genomics

    Principal Investigator

    Carlo Colantuoni, Ph.D.

    Department

    Neurology
    Neuroscience

  • Casey Overby Lab

    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.

    Research Areas: public health, genomics, electronic health records, bioinformatics

    Principal Investigator

    Casey Taylor, Ph.D.

    Department

    Medicine

  • Chloe Thio Lab

    Research in the Chloe Thio lab focuses on several areas. First, HBV virology and immunology in HBV monoinfected and HIV-HBV co-infected individuals that will ultimately help develop a cure for HBV. Second, HCV infection in men who have sex with men. Third, non-alcoholic fatty liver disease with a focus on HIV-infected individuals. Fourth, host genetic determinants of spontaneous HBV recovery and HCV clearance.

    Research Areas: HIV-HBV co-infection, hepatitis B, genomics, hepatitis C, fatty liver

    Principal Investigator

    Chloe Thio, M.D.

    Department

    Medicine

  • 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

  • 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

  • Daria Gaykalova Lab

    The Daria Gakalova Lab defines the functional role of epigenetics in transcriptional regulation of head and neck squamous cell carcinoma (HNSCC) progression. To evaluate the whole-genome distribution of various histone marks, her team is using chromatin immunoprecipitation followed by massively parallel DNA sequencing (ChIP-Seq) for primary tissues, a method recently developed by her lab. The research group of Daria Gaykalova was the first to demonstrate the cancer-specific distribution of H3K4me3 and H3K27ac marks and their role in cancer-related gene expression in HNSCC. The research showed that an aberrant chromatin alteration is a central event in carcinogenesis and that the therapeutic control of chromatin structure can prevent the primary of secondary cancerization. Further preliminary data suggest that the differential enrichment of these disease-specific histone marks and DNA methylation correlate with alternative splicing events (ASE) formation. For this project, Dr. Gaykalova... and her team employed a novel bioinformatical tool for the detection of cancer-specific ASEs. Through thorough functional validation of the individual ASEs, the lab demonstrated that each of them has a unique mechanism of malignant transformation of the cells. Due to high disease specificity, ASEs represent the perfect biomarkers of the neoantigens and have direct application to clinical practice. view more

    Research Areas: Head and neck squamous cell carcinoma, Human papillomavirus, Alternative splicing, epigenetics, Chromatin structure, Cancer genomics, head and neck cancer

  • David Moller Lab

    Research in the David Moller Lab focuses on sarcoidosis, a potentially fatal inflammatory disease characterized by tiny clumps of inflammatory cells that scar the lungs, lymph nodes, skin and other major organs. We’re currently involved in a clinical trial related to genomic research in sarcoidosis and a clinical trial related to genomic research in Alpha-1 antitrypsin deficiency. Previously, we led a project that identified a potential protein trigger responsible for sarcoidosis.

    Research Areas: Alpha-1 antitrypsin deficiency, sarcoidosis, genomics

    Principal Investigator

    David Moller, M.D.

    Department

    Medicine

  • Devreotes Laboratory

    The Devreotes Laboratory is engaged in genetic analysis of chemotaxis in eukaryotic cells. Our long-term goal is a complete description of the network controlling chemotactic behavior. We are analyzing combinations of deficiencies to understand interactions among network components and carrying out additional genetic screens to identify new pathways involved in chemotaxis. A comprehensive understanding of this fascinating process should lead to control of pathological conditions such as inflammation and cancer metastasis.

    Research Areas: biochemistry, cell biology, chemotaxis, cancer, genomics, inflammation

    Lab Website

    Principal Investigator

    Peter Devreotes, Ph.D.

    Department

    Cell Biology

  • 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

  • Erika Matunis Laboratory

    The Erika Matunis Laboratory studies the stem cells that sustain spermatogenesis in the fruit fly Drosophila melanogaster to understand how signals from neighboring cells control stem cell renewal or differentiation. In the fruit fly testes, germ line stem cells attach to a cluster of non-dividing somatic cells called the hub. When a germ line stem cell divides, its daughter is pushed away from the hub and differentiates into a gonialblast. The germ line stem cells receive a signal from the hub that allows it to remain a stem cell, while the daughter displaced away from the hub loses the signal and differentiates. We have found key regulatory signals involved in this process. We use genetic and genomic approaches to identify more genes that define the germ line stem cells' fate. We are also investigating how spermatogonia reverse differentiation to become germ line stem cells again.

    Research Areas: stem cells, spermatogenesis, genomics, molecular biology

    Lab Website

    Principal Investigator

    Erika Matunis, Ph.D.

    Department

    Cell Biology

  • Erwin Lab

    Schizophrenia, autism and other neurological disorders are caused by a complex interaction between inherited genetic risk and environmental experiences. The overarching goal of the group are to reveal molecular mechanisms of gene by environment interactions related to altered neural development and liability for brain disorders. Our research uses a hybrid of human stem cell models, post-mortem tissue and computational approaches to interrogate the contribution of epigenetic regulation and somatic mosaicism to brain diseases. Our previous work has demonstrated that the human brain exhibits extensive genetic variability between neurons within the same brain, termed "somatic mosaicism" due to mobile DNA elements which mediate large somatic DNA copy number variants. We study environment-responsive mechanisms and consequences for somatic mosaicism and are discovering the landscape of somatic mosaicism in the brain. We also study the epigenetic regulation of cell specification and activity-d...ependent states within the human dorsal lateral prefrontal cortex and striatum. view more

    Research Areas: autism, Cellular and Molecular Neuroscience, stem cells, Developmental Neuroscience, Neurobiology of Disease, Induced Pluripotent Stem Cell Models, Organoids, schizophrenia, genomics, Dystonia, Epigenomics

    Lab Website

    Principal Investigator

    Jennifer Erwin, Ph.D.

    Department

    Neurology

  • Francis Giardiello Lab

    Research in the Francis Giardiello Lab focuses on the study of cancer and cancer chemoprevention in the gastrointestinal tract. This has included the investigation of the genetic basis of familial colorectal cancer and the use of genetic testing in the hereditary forms of colorectal cancer. We have a continuing interest in the study of the genotypic-phenotypic correlations in polyposis syndromes, which include familial adenomatous polyposis, juvenile polyposis and Peutz-Jeghers syndrome.

    Research Areas: gastrointestinal system, colorectal cancer, cancer, genomics, polyposis syndromes

    Principal Investigator

    Francis Giardiello, M.D.

    Department

    Medicine

  • 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.
    view more

    Research Areas: stem cells, human-induced pluripotent stem cells, genomics, drugs, muscular dystrophy, familial dysautonomia

    Principal Investigator

    Gabsang Lee, Ph.D.

    Department

    Neurology

  • Gail Geller Lab

    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 Areas: palliative care, patient-provider relationships, genomics, complementary and alternative medicines, bioethics

    Principal Investigator

    Gail Geller, M.H.S., Sc.D.

    Department

    Medicine

  • GI Biomarkers Laboratory

    The GI Biomarkers Laboratory studies gastrointestinal cancer and pre-cancer biogenesis and biomarkers. The lab is led by Dr. Stephen Meltzer, who is known for his research in the molecular pathobiology of gastrointestinal malignancy and premalignancy. Research in the lab has led to several groundbreaking genomic, epigenomic and bioinformatic studies of esophageal and colonic neoplasms, shifting the gastrointestinal research paradaigm toward genome-wide approaches.

    Research Areas: gastrointestinal system, biomarkers, cancer, epigenetics, genomics, bioinformatics, biogenesis

    Lab Website

    Principal Investigator

    Stephen Meltzer, M.D.

    Department

    Medicine

  • Goley Lab

    The Goley Lab is broadly interested in understanding cellular organization and dynamic reorganization, with particular focus on the roles of the cytoskeleton in these phenomena. We use cell biological, biochemical, genetic and structural approaches to dissect cytoskeletal processes with the aim of understanding how they work in molecular detail. Currently, we are focused on investigating the mechanisms underlying cytokinesis in bacteria. A deep understanding of cytoskeletal function in bacteria will aid in the identification of targets for novel antibiotic therapies and in efforts in synthetic biology.

    Research Areas: biological chemistry, cell biology, genomics, cytoskeleton

    Lab Website

    Principal Investigator

    Erin Goley, Ph.D.

    Department

    Biological Chemistry

  • Green Lab

    Work in the Green Lab is centered on the ribosome. The overall fidelity of protein synthesis appears to be limited by the action of the ribosome, which is the two-subunit macromolecular machine responsible for decoding and translating messenger RNAs (mRNAs) into protein in all organisms. Our work is divided into four general project areas. The longest-standing research area concerns the interactions of eubacterial ribosomes and release factors. The goal is to understand the mechanism of action of release factors on the ribosome. A second research area involves biochemical and structure/function studies of the miRNA pathway, particularly the mechanism of action of the Argonaute proteins and their interacting factors. A third area of work in the lab is centered around regulation of eukaryotic translation, specifically in understanding the mechanism behind various mRNA quality control pathways and the interactions of proteins therein, as well as with the ribosome. The newest area of rese...arch in the lab extends our strengths in ribosome biochemistry to characterize the translation status of the cell using the ribosome profiling. We are using this technique to better understand the role of several factors involved in eukaryotic and prokaryotic translation fidelity. view more

    Research Areas: biochemistry, genomics, ribosome, RNA

  • Gregg Semenza Lab

    The Gregg Semenza Lab studies the molecular mechanisms of oxygen homeostasis. We have cloned and characterized hypoxia-inducible factor 1 (HIF-1), a basic helix-loop-helix transcription factor.

    Current research investigates the role of HIF-1 in the pathophysiology of cancer, cerebral and myocardial ischemia, and chronic lung disease, which are the most common causes of mortality in the U.S.

    Research Areas: cancer, oxygen, lung disease, genomics, HIF-1, pathogenesis, myocardial ischemia

    Principal Investigator

    Gregg Semenza, M.D., Ph.D.

    Department

    Pediatrics

  • Haig Kazazian Lab

    The Kazazian Lab focuses on the biology of LINE-1 (L1) retrotransposons. Retrotransposons are pieces of genomic DNA that have the ability to duplicate themselves and insert into a new genomic location. Current studies use innovative DNA sequencing to locate all human-specific L1s in any genome. By understanding L1 biology, we hope to better understand the role of these genomes and their behavior in complex human disease, such as cancer and mental disorders. The lab is also examining how to carry out gene therapy of hemophilia A using AAV vectors.

    Research Areas: cell biology, cancer, retrotransposons, DNA, genomics, mental disorders

    Lab Website

    Principal Investigator

    Haig Kazazian, M.D.

    Department

    Pediatrics

  • Herschel Wade Lab

    The emergence of structural genomics, proteomics and the large-scale sequencing of many genomes provides experimental access to regions of protein sequence-structure-function landscapes which have not been explored through traditional biochemical methods. Protein structure-function relationships can now be examined rigorously through the characterization of protein ensembles, which display structurally convergent--divergent solutions to analogous or very similar functional properties.

    In this modern biochemical context, the Herschel Wade Lab will use protein libraries, chemistry, biophysics, molecular biology and structural methods to examine the basis of molecular recognition in the context of several important biological problems, including structural and mechanistic aspects of multi-drug resistance, ligand-dependent molecular switches and metal ion homeostasis.

    Research Areas: biophysics, biochemistry, proteomics, genomics, drugs, molecular biology

  • Holland Lab

    Research in the Holland Lab focuses on the molecular mechanisms that control accurate chromosome distribution and the role that mitotic errors play in human health and disease. We use a combination of chemical biology, biochemistry, cell biology and genetically engineered mice to study pathways involved in mitosis and their effect on cell and organism physiology. One of our major goals is to develop cell and animal-based models to study the role of cell-division defects in genome instability and tumorigenesis.

    Research Areas: cancer, genomics, molecular biology

  • 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

  • J. Hunter Young Lab

    Research in the J. Hunter Young Lab focuses on the genetic epidemiology and physiology of cardiovascular disease and its risk factors, especially hypertension, diabetes and obesity. Current activities include an observational study of hypertension among African Americans; a genetic epidemiology study of worldwide cardiovascular disease susceptibility patterns; and several population-based observational studies of cardiovascular and renal disease. A recent focus group study found that changes in housing and city policies might lead to improved environmental health conditions for public housing residents.

    Research Areas: epidemiology, kidney diseases, obesity, hypertension, diabetes, genomics, physiology, cardiovascular diseases

    Principal Investigator

    Jeffery Young, M.D., M.H.S.

    Department

    Medicine

  • 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

  • Jeffry Corden Laboratory

    Jeffry Corden's lab is using genetic and biochemical approaches to investigate the functional role of the C-terminal domain (CTD) in the biogenesis of mRNA. We use both yeast and mammalian systems to conduct research.

    A major effort in the lab is directed at studies of proteins that bind the CTD. Using the yeast two-hybrid approach, we've identified a family of proteins that interact with the CTD. These proteins are similar to the serine/arginine-rich proteins involved in pre-mRNA splicing. A current focus of the laboratory is to determine how these proteins function in mRNA biogenesis and how CTD phosphorylation regulates this function. Other research in our lab investigates the mechanism by which RNA sequences in the nascent transcript trigger Pol II termination.

    Research Areas: biochemistry, C-terminal domain (CTD), genomics, yeast, RNA

    Principal Investigator

    Jeffry Corden, Ph.D.

    Department

    Molecular Biology and Genetics

  • Jeremy Nathans Laboratory

    The Jeremy Nathans Laboratory is focused on neural and vascular development, and the role of Frizzled receptors in mammalian development. We use gene manipulation in the mouse, cell culture models, and biochemical reconstitution to investigate the relevant molecular events underlying these processes, and to genetically mark and manipulate cells and tissues. Current experiments are aimed at defining additional Frizzled-regulated processes and elucidating the molecular mechanisms and cell biologic results of Frizzled signaling within these various contexts. Complementing these areas of biologic interest, we have ongoing technology development projects related to genetically manipulating and visualizing defined cell populations in the mouse, and quantitative analysis of mouse visual system function.

    Research Areas: vascular development, biochemistry, cell biology, neurodevelopment, genomics, Frizzled receptors, neuroscience

  • Joanna Peloquin Lab

    The Joanna Peloquin Lab focuses on inflammatory bowel disease (IBD). We're working on individualized care for IBD patients through functional genomic studies, specifically those related to diet, host and microbiota interactions.

    Research Areas: inflammatory bowel disease, gastroenterology, nutrition, microbiota, genomics

    Principal Investigator

    Joanna Melia, M.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

  • Katherine Wilson Lab

    Research in the Wilson Lab focuses on three components of nuclear lamina structure: lamins, LEM-domain proteins (emerin), and BAF.

    These three proteins all bind each other directly, and are collectively required to organize and regulate chromatin, efficiently segregate chromosomes and rebuild nuclear structure after mitosis. Mutations in one or more of these proteins cause a variety of diseases including Emery-Dreifuss muscular dystrophy (EDMD), cardiomyopathy, lipodystrophy and diabetes, and accelerated aging.

    We are examining emerin's role in mechanotransduction, how emerin and lamin A are regulated, and whether misregulation contributes to disease.

    Research Areas: cell biology, Emery-Dreifuss muscular dystrophy (EDMD), accelerated aging, chromatin, diabetes, genomics, emerin, nuclear lamina, lipodystrophy, cardiomyopathy

    Principal Investigator

    Katherine Wilson, Ph.D.

    Department

    Cell Biology

  • Lamichhane Lab

    The Lamichhane Lab strives to understand the fundamental mechanisms used by Mycobacterium tuberculosis to survive, grow and cause disease. Although our lab uses genetic and biochemical approaches to study this organism, we pursue questions irrespective of the expertise required to answer those questions. We work to identify the essential components of the peptidoglycan layer and how the physiology of this layer is maintained. We also explore what non-coding RNAs exist in M. tuberculosis and investigate what their relevance is to the physiology and virulence of this pathogen.

    Research Areas: biochemistry, infectious disease, Mycobacterium tuberculosis, genomics, tuberculosis, RNA

    Principal Investigator

    Gyanu Lamichhane, Ph.D.

    Department

    Medicine

  • 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

  • Liliana Florea Lab

    Research in the Liliana Florea Lab applies computational techniques toward modeling and problem solving in biology and genetic medicine. We work to develop computational methods for analyzing large-scale sequencing data to help characterize molecular mechanisms of diseases. The specific application areas of our research include genome analysis and comparison, cDNA-to-genome alignment, gene and alternative splicing annotation, RNA editing, microbial comparative genomics, miRNA genomics and computational vaccine design. Our most recent studies seek to achieve accurate and efficient RNA-seq correction and explore the role of HCV viral miRNA in hepatocellular carcinoma.

    Research Areas: evolutionary genomics, vaccines, carcinoma, cancer, genomics, bioinformatics, RNA, comparative genomics

    Principal Investigator

    Liliana Florea, M.Sc., Ph.D.

    Department

    Medicine

  • Loyal Goff Laboratory

    The Loyal Goff Laboratory seeks to answer a fundamental biological question: How is the genome properly interpreted to coordinate the diversity of cell types observed during neuronal development? We are focused on the acquisition of specific cellular identities in neuronal development and identifying the molecular determinants responsible for proper brain development. Using novel experimental approaches for the enrichment and purification of specific neuronal cell types and recent technological advances in single-cell RNA sequencing, we can discover and explore the cellular factors that contribute to neuronal cell fate decisions during mammalian brain development.

    Research Areas: brain, neuronal development, genomics, RNA

    Lab Website

    Principal Investigator

    Loyal Goff, Ph.D.

    Department

    Neuroscience

  • Margaret Daniele Fallin Lab

    Work in the Margaret Daniele Fallin Lab focuses on the genetic epidemiology of neuropsychiatric conditions. Our team primarily studies the genetic basis of autism spectrum disorder, Alzheimer’s disease, schizophrenia and bipolar disorder. We also explore the integration of genetic susceptibility and environmental risk. Our current research involves applying genetic epidemiology methods to develop applications and methods for epigenetic epidemiology, with a focus on mental health and development.

    Research Areas: autism, mental health, epidemiology, schizophrenia, genomics, bipolar disorder, neuropsychiatric disease, Alzheimer's disease

  • 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

  • Michael Wolfgang Laboratory

    The Wolfgang Laboratory is interested in understanding the metabolic properties of neurons and glia at a mechanistic level in situ. Some of the most interesting, enigmatic and understudied cells in metabolic biochemistry are those of the nervous system. Defects in these pathways can lead to devastating neurological disease. Conversely, altering the metabolic properties of the nervous system can have surprisingly beneficial effects on the progression of some diseases. However, the mechanisms of these interactions are largely unknown.

    We use biochemical and molecular genetic techniques to study the molecular mechanisms that the nervous system uses to sense and respond to metabolic cues. We seek to understand the neurometabolic regulation of behavior and physiology in obesity, diabetes and neurological disease.

    Current areas of study include deconstructing neurometabolic pathways to understand the biochemistry of the nervous system and how these metabolic pathways impact animal beh...avior and physiology, metabolic heterogeneity and the evolution of metabolic adaptation. view more

    Research Areas: metabolic biochemistry, obesity, diabetes, genomics, neurology, nervous system, molecular biology

    Principal Investigator

    Michael J. Wolfgang, Ph.D.

    Department

    Biological Chemistry

  • Mihaela Pertea Lab

    The Mihaela Pertea Lab develops computational tools for RNA sequence analysis, gene finding, splice-site prediction and sequence-motif finding. Previous research projects led to the development of open-source software systems related to finding genes.

    Research Areas: computational biology, DNA, genomics, RNA

    Lab Website

    Principal Investigator

    Mihaela Pertea, M.S., M.S.E., Ph.D.

    Department

    Medicine

  • Miho Iijima Laboratory

    The Miho Iijima Laboratory works to make a further connection between cells' signaling events and directional movement. Our researchers have identified 17 new PH domain-containing proteins in addition to 10 previously known genes in the Dictyostelium cDNA and genome database. Five of these genes contain both the Dbl and the PH domains, suggesting these proteins are involved in actin polymerization. A PTEN homologue has also been identified in Dictyostelium that is highly conserved with the human gene. We are disrupting all of these genes and studying their roles in chemotaxis.

    Research Areas: cell biology, chemotaxis, genomics

    Lab Website

    Principal Investigator

    Miho Iijima, M.S., Ph.D.

    Department

    Cell Biology

  • Mohamed Farah Lab

    The Mohamed Farah Lab studies axonal regeneration in the peripheral nervous system. We've found that genetic deletion and pharmacological inhibition of beta-amyloid cleaving enzyme (BACE1) markedly accelerate axonal regeneration in the injured peripheral nerves of mice. We postulate that accelerated nerve regeneration is due to blockade of BACE1 cleavage of two different BACE1 substrates. The two candidate substrates are the amyloid precursor protein (APP) in axons and tumor necrosis factor receptor 1 (TNFR1) on macrophages, which infiltrate injured nerves and clear the inhibitory myelin debris. In the coming years, we will systematically explore genetic manipulations of these two substrates in regard to accelerated axonal regeneration and rapid myelin debris removal seen in BACE1 KO mice. We also study axonal sprouting and regeneration in motor neuron disease models.

    Research Areas: genomics, nerve regeneration, nervous system

    Lab Website

    Principal Investigator

    Mohamed Farah, Ph.D.

    Department

    Neurology

  • Mollie Meffert Lab

    The Mollie Meffert Lab studies mechanisms underlying enduring changes in brain function. We are interested in understanding how programs of gene expression are coordinated and maintained to produce changes in synaptic, neuronal and cognitive function. Rather than concentrating on single genes, our research is particularly focused on understanding the upstream processes that allow neuronal stimuli to synchronously orchestrate both up and down-regulation of the many genes required to mediate changes in growth and excitation. This process of gene target specificity is implicit to the appropriate production of gene expression programs that control lasting alterations in brain function.

    Research Areas: cognition, neuronal function, synaptic function, brain, genomics

  • 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

  • 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

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