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Research Lab Results for phenotypes

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  • 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
  • Clifton O. Bingham III Lab

    Principal Investigator:
    Clifton O. Bingham, M.D.
    Medicine

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

    Research Areas: biochemistry, imaging, osteoarthritis, clinical trials, inflammation, oral health, rheumatoid arthritis
  • 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
  • Gabsang Lee Lab

    Principal Investigator:
    Gabsang Lee, Ph.D.
    Neurology

    Human induced pluripotent stem cells (hiPSCs) provide unprecedented opportunities for cell repl...acement 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 neural 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
  • Mohamed Atta Lab

    Dr. Atta and his research team explore the epidemiological and clinical interventions of a vari...ety of kidney diseases. Our goal is not only to advance the understanding of many kidney diseases but also to capitalize on novel discoveries of basic science to treat a wide range of rare and common kidney disorders.




    • Multi-international observational study of a rare form of amyloid (LECT2 amyloid) to understand its natural history with the ultimate interest of treating this condition.

    • Our group has launched a project investigating the impact of COVID19 on the kidney to identify risk factors influencing outcome across different clinical phenotypes

    • In collaboration with the Division of Infectious Diseases and the School of Public Health, our research has focused on the epidemiology of HIV and kidney disease. We also study clinical markers and contributing factors in the progression of kidney disease, and the association between kidney disease and heart disease.

    • Our research group is participating in a multicenter consortium serving as a clinical core site to study the pathogenesis of HIV-associated kidney disease by providing well-characterized clinical specimens and corresponding clinical and laboratory data.

    view more

    Research Areas: kidney diseases, HIV, hepatitis C
  • Nauder Faraday Lab

    Lab Website

    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. view more

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