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Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

An Overview of Genetics and Disease

JoVE 5543

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.


 Genetics

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Hyperpolarized 13C Metabolic Magnetic Resonance Spectroscopy and Imaging

1Department of Nuclear Medicine, Klinikum rechts der Isar, Technische Universität München, 2Department of Chemistry, Technische Universität München, 3GE Global Research, 4Zentralinstitut für Medizintechnik der Technischen Universität München (IMETUM), Technische Universität München, 5Institute for Biological and Medical Imaging (IBMI), Helmholtz Zentrum München, 6IDG Institute of Developmental Genetics, Helmholtz Zentrum München

JoVE 54751


 Cancer Research

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Two Algorithms for High-throughput and Multi-parametric Quantification of Drosophila Neuromuscular Junction Morphology

1Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 2Microscopical Imaging Centre (MIC), Radboud University Medical Center, 3Department of Biology, Universidad Autónoma de Madrid, 4Department of Clinical and Experimental Medicine, Linköping University, 5Department of Pathology, Radboud University Medical Center

JoVE 55395


 Neuroscience

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Ultrasound Images of the Tongue: A Tutorial for Assessment and Remediation of Speech Sound Errors

1Department of Communication Sciences and Disorders, Syracuse University, 2Haskins Laboratories, 3Department of Communicative Sciences and Disorders, New York University, 4Department of Communication Sciences and Disorders, University of Cincinnati, 5Program in Speech-Language-Hearing Sciences, City University of New York Graduate Center, 6Department of Linguistics, Yale University

JoVE 55123


 Behavior

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A Simple Flow Cytometric Method to Measure Glucose Uptake and Glucose Transporter Expression for Monocyte Subpopulations in Whole Blood

1Centre for Biomedical Research, Macfarlane Burnet Institute for Medical Research and Public Health, 2Department of Infectious Diseases, Monash University, 3Department of Microbiology and Immunology, University of Melbourne, 4Department of Microbiology, The University of the West Indies, 5Division of Experimental Medicine, Department of Medicine, University of California, San Francisco, 6Department of Medicine, Monash University

JoVE 54255


 Immunology and Infection

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Open Source High Content Analysis Utilizing Automated Fluorescence Lifetime Imaging Microscopy

1Photonics Group, Department of Physics, Imperial College London, 2Institute for Chemical Biology, Department of Chemistry, Imperial College London, 3MRC Clinical Sciences Centre, Hammersmith Hospital, 4Chemical Biology Section, Department of Chemistry, Imperial College London, 5Retroscreen Virology Ltd, 6Pfizer Global Research and Development, Pfizer Limited, Sandwich, Kent, UK, 7Centre for Histopathology, Imperial College London

JoVE 55119


 Biology

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LC-MS Analysis of Human Platelets as a Platform for Studying Mitochondrial Metabolism

1Center for Cancer Pharmacology, University of Pennsylvania, 2Center for Excellence in Environmental Toxicology, University of Pennsylvania, 3Penn SRP and Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania, 4Division of Traumatology, Department of Surgery, Critical Care and Acute Care Surgery, University of Pennsylvania, 5A.J. Drexel Autism Institute, Drexel University

JoVE 53941


 Environment

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Phage Phenomics: Physiological Approaches to Characterize Novel Viral Proteins

1Department of Biology, San Diego State University, 2Computational Science Research Center, San Diego State University, 3Bioinformatics and Medical Informatics Research Center, San Diego State University, 4Department of Mathematics and Statistics, San Diego State University, 5Department of Computer Science, San Diego State University, 6Mathematics and Computer Science Division, Argonne National Laboratory, 7SPARC Committee, Broad Institute

JoVE 52854


 Immunology and Infection

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Internal Standards

JoVE 10225

Source: Laboratory of Dr. B. Jill Venton - University of Virginia

The goal of many chemical analyses is a quantitative analysis, where the amount of a substance in a sample is determined. In order to accurately calculate the concentration of an unknown from a sample, careful sample preparation is key. Every time a sample is handled or transferred, some of the sample can be lost. There are strategies however, for minimizing sample loss. There are also strategies for coping with sample loss and still making accurate measurements of concentration. To minimize sample loss, the ideal is to minimize the number of sample handling and transfer steps. For example, massing a solid sample directly into a flask that a solution will be made in reduces a transfer step. If it's necessary to transfer from one flask to another and a dilution is being made, then triple rinsing the glassware helps ensure all the sample is transferred. Other strategies are more specific to the sample. For example, samples that adsorb to glass, such as proteins, might better be handled in polypropylene disposable tubes. The tubes are not hydrophilic, so if a small amount of sample is to be pipetted in water, it is best to have already added the water to the tube, so the sample can be pipetted directly into the solve


 Analytical Chemistry

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Improved Method for the Establishment of an In Vitro Blood-Brain Barrier Model Based on Porcine Brain Endothelial Cells

1Lundbeck Foundation Research Initiative on Brain Barriers and Drug Delivery, Department of Biomedicine, Aarhus University, 2Institute of Pharmaceutical Science, King's College London, 3HICoE Centre for Drug Research, Universiti Sains Malaysia

JoVE 56277


 Medicine

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Creating Dynamic Images of Short-lived Dopamine Fluctuations with lp-ntPET: Dopamine Movies of Cigarette Smoking

1Diagnostic Radiology, Yale University, 2Psychiatry, Yale University, 3Yale PET Center, Yale University, 4Biomedical Engineering, Yale University, 5Nuclear Medicine, Massachusetts General Hospital, 6Radiological Sciences, University of California, Irvine

JoVE 50358


 Behavior

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Studying the Hypothalamic Insulin Signal to Peripheral Glucose Intolerance with a Continuous Drug Infusion System into the Mouse Brain

1The Ph.D. Program for Neural Regenerative Medicine, College of Medical Science and Technology, Taipei Medical University and National Health Research, 2Graduate Institute of Neural Regenerative Medicine, College of Medical Science and Technology, Taipei Medical University, 3TMU research center for Neurotrauma and Neuroregeneration, College of Medical Science and Technology, Taipei Medical University

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JoVE 56410


 JoVE In-Press

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Non-invasive Optical Measurement of Cerebral Metabolism and Hemodynamics in Infants

1Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, 2Lab. PALM, Université de Caen Basse-Normandie, 3Fetal-Neonatal Neuroimaging and Developmental Science Center, Boston Children's Hospital, Harvard Medical School, 4ISS, INC.

JoVE 4379


 Medicine

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