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  • Alan Baer Lab

    Research in the Alan Baer Lab focuses on Sjogren's syndrome. Previously, we conducted the Sjogren's International Registry (SICCA), enrolling 300 patients and creating a valuable source of clinical data and biospecimens for research we're conducting with colleagues at Johns Hopkins and the University of California-San Francisco. Currently, we're conducting a longitudinal observational study of patients with Sjogren's syndrome. We're also collaborating with Dr. Ben Larman in the Department of Pathology, using phage immuno-precipation sequencing to work on a characterization of the complete autoantibody repertoire in Sjogren's syndrome patients.

    Research Areas: autoantibodies, Sjogren's syndrome, autoimmune rheumatic diseases, observational data

    Principal Investigator

    Alan Baer, M.D.

    Department

    Medicine

  • 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

  • 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.
    view more

    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

  • 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

  • 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

  • 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

  • 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

  • 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

  • Rasika Mathias Lab

    Research in the Rasika Mathias Lab focuses on the genetics of asthma in people of African ancestry. 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.

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

    Principal Investigator

    Rasika Mathias, Sc.D.

    Department

    Medicine

  • Ryuya Fukunaga Lab

    The Fukunaga Lab uses multidisciplinary approaches to understand the cell biology, biogenesis and 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.

    Research Areas: biophysics, biochemistry, cell biology, cell culture, genomics, RNA

    Principal Investigator

    Ryuya Fukunaga, Ph.D.

    Department

    Biological Chemistry

  • Salzberg Lab

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

    Research Areas: computational biology, DNA, genomics, sequencing technology, biostatistics, RNA

  • Saraswati Sukumar Lab

    Our lab is focused on using comprehensive gene expression, methylation and sequencing and metabolomics analysis to identify alterations in breast cancer, and exploiting these for early detection and therapy. Among deferentially expressed genes, our lab has focused on the HOX genes. HOX genes are intimately involved in the development of resistance to both chemotherapy and to agents targeting the estrogen receptor. Our work explores the alternate pathways that are activated by HOX proteins leading to this resistance and novel treatments to overcome resistance in both tissue culture and xenograft models. In addition, epigenetically silenced genes and a metabolic reprogramming in tumors also trigger novel early detection and therapeutic strategies. We are testing the utility of differentiation therapy through reactivating RAR-beta in breast cancer using histone deacetylase inhibitors with great success. Also, we are targeting enzymes involved in gluconeogenesis and glycolysis with small ...molecule FDA-approved antimetabolites to achieve antitumor effects. view more

    Research Areas: breast cancer, genetics

    Lab Website

    Principal Investigator

    Saraswati Sukumar, Ph.D.

    Department

    Oncology

  • Srinivasan Yegnasubramanian Lab

    Dr. Yegnasubramanian directs a Laboratory of Cancer Molecular Genetics and Epigenetics at the Sidney 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.

    Research Areas: cancer therapies, biomarkers, genetics, cancer, epigenetics

  • The Laboratory for Precision Immunology

    We are devoted to developing and deploying cutting edge technologies that can be used to define human immune responses. Much of our work leverages ‘next generation’ DNA sequencing, which enables massively parallel molecular measurements. Examples of our technologies include:
    - bacteriophage display of synthetic peptidome libraries for comprehensive, quantitative profiling of antibodies;
    - display of ORFeome libraries for antigen discovery, protein-protein interaction studies, and drug target identification;
    - ultrasensitive, multiplex RNA quantification techniques to monitor gene expression and detect microbes;
    - pooled genetic screening to elucidate immune cell function and identify new therapeutic targets.

    The Larman Laboratory uses these and other approaches to identify opportunities for monitoring and manipulating immune responses.

    Research Areas: immunology, precision immunology

    Lab Website

    Principal Investigator

    H. Larman, Ph.D.

    Department

    Pathology

  • Wheelan Lab

    The Wheelan Lab focuses on DNA sequence analysis. Her team creates new techniques to mathematically analyze and biologically interpret high-throughput sequencing data and other high-dimensional biological datasets. The team examines spatial relationships across genomes and uses transposons to query genomic sequence/structure relationships.

    Research Areas: computational biology, DNA, genomics, sequencing

    Principal Investigator

    Sarah Wheelan, M.D., Ph.D.

    Department

    Oncology

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