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Hemophilia A: The classic hemophilia resulting from a deficiency of factor Viii. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
 JoVE Medicine

A Novel Surgical Approach for Intratracheal Administration of Bioactive Agents in a Fetal Mouse Model

1Molecular Virology and Gene Therapy, KU Leuven, 2Department of Woman and Child, KU Leuven, 3Neurobiology and Gene Therapy, KU Leuven, 4Division of Nuclear Medicine, KU Leuven, 5Biomedical NMR Unit/ MoSAIC, KU Leuven


JoVE 4219

 Science Education: Essentials of Genetics

An Overview of Genetics and Disease

JoVE Science Education

Many human diseases are associated with mutations or variations in genetic sequences. Some of these genetic variants are heritable, passed down from generation to generation, while others arise sporadically during an organism’s life and cause diseases such as cancer. Researchers are trying to identify and characterize these genetic alterations in the hopes of improving diagnosis and therapeutic options for patients.In this video, we will examine the history of genetic disease research, and explore key questions asked by medical geneticists. Various tools used to identify the genetic basis of diseases are then discussed, including genotyping techniques and genome-wide association studies (GWAS). Finally, several current examples of medical genetics research are presented.

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 JoVE Genetics

Genetic Manipulation of the Plant Pathogen Ustilago maydis to Study Fungal Biology and Plant Microbe Interactions

1Institute for Microbiology, Heinrich-Heine University Düsseldorf, 2Bioeconomy Science Center (BioSC), 3Department of Genetics, Institute of Applied Biosciences, Karlsruhe Institute of Technology, 4Cluster of Excellence in Plant Sciences (CEPLAS), Heinrich-Heine University Düsseldorf


JoVE 54522

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 JoVE Bioengineering

Rapid Scan Electron Paramagnetic Resonance Opens New Avenues for Imaging Physiologically Important Parameters In Vivo

1Department of Chemistry and Biochemistry, University of Denver, 2Magnetic Imaging Group, Applied Physics Division, Physical Measurements Laboratory, National Institute of Standards and Technology, 3Department of Radiology, Geisel School of Medicine, Dartmouth University, 4Department of Biochemistry, West Virginia University, 5Department of Electrical and Computer Engineering, University of Denver, 6Department of Engineering, University of Denver


JoVE 54068

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 JoVE Cancer Research

Intra-iliac Artery Injection for Efficient and Selective Modeling of Microscopic Bone Metastasis

1Lester and Sue Smith Breast Center, Baylor College of Medicine, 2Department of Molecular and Cellular Biology, Baylor College of Medicine, 3Graduate Program in Developmental Biology, Baylor College of Medicine, 4Department of Molecular and Human Genetics, Baylor College of Medicine, 5McNair Medical Institute, Baylor College of Medicine, 6Dan L. Duncan Cancer Center, Baylor College of Medicine


JoVE 53982

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 JoVE Medicine

Combined Near-infrared Fluorescent Imaging and Micro-computed Tomography for Directly Visualizing Cerebral Thromboemboli

1Molecular Imaging and Neurovascular Research Laboratory, Dongguk University College of Medicine, 2Biomedical Research Center, Korea Institute of Science and Technology, 3Research Institute of Advanced Materials, Department of Materials Science and Engineering, Seoul National University, 4Departments of Radiology and Cancer Systems Imaging, University of Texas M.D. Anderson Cancer Center


JoVE 54294

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 JoVE Cancer Research

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

1Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, 2Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, 3Abramson Cancer Center


JoVE 52758

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 JoVE Cancer Research

How to Study Basement Membrane Stiffness as a Biophysical Trigger in Prostate Cancer and Other Age-related Pathologies or Metabolic Diseases

1Departamento de Genética, Facultad de Medicina, Universidad de la República (UDELAR), 2Department of Mechanistic Cell Biology, Max Planck Institute of Molecular Physiology, 3School of Biological, Biomedical & Environmental Sciences, University of Hull


JoVE 54230

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 JoVE Genetics

Genetic Engineering of an Unconventional Yeast for Renewable Biofuel and Biochemical Production

1Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, 2NUS Synthetic Biology for Clinical and Technological Innovation (SynCTI), Life Sciences Institute, National University of Singapore, 3Food Science and Chemical Engineering, Singapore Institute of Technology


JoVE 54371

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