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    Genetic Disease

    Genetic diseases are disorders stemming from mutations in an individual's DNA sequence. These conditions can be a result of mutations in a single or multiple genes. An example of a genetic disease is cystic fibrosis: an inherited, progressive disease that affects the respiratory system.

    Webinars

    • AUG 20, 2014 | 8:00 AM
      Exploring Complex Structural Genomic Variation using Next-Gen Sequencing
      Exploring Complex Structural Genomic Variation using Next-Gen...
      Structural variants (SVs), defined as the deletion, duplication, insertion, inversion or translocation of genomic regions, are both a major source of genetic diversity in human populations an...
      Speaker: Ryan E. Mills, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      12
      JUN 26, 2014 | 10:00 AM
      Immunoassay Serology Treponemal Screen
      Immunoassay Serology Treponemal Screen
      Serology testing continues to be an indispensable tool for the management of several disease states, especially treponemal screening to monitor syphilis infection in the US. Come to this edu...
      Speaker: Tiffany MacKenzie, PhD
      Presented at: Discover More; Your Virtual Resource
      Diasorin
      53
      MAY 28, 2014 | 10:30 AM
      Early infantile rickets: A new look at an old disease and mimic of child abuse
      Early infantile rickets: A new look at an old disease and mimic...
      Early infantile rickets is the least appreciated form of this ancient disease of children. Although it is usually subclinical, the high prevalence recently reported at autopsy (87% < 1 yea...
      Speaker: David Ayoub, MD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2014
      198
      MAY 28, 2014 | 10:30 AM
      Heavy/Light Chain Combination Assays: What Laboratories should know about M-Protein detection
      Heavy/Light Chain Combination Assays: What Laboratories should...
      Traditional testing methods for monoclonal protein in Plasma Cell Dyscrasias correctly identify a majority of patients. However, limitations in these methods can cause patients to be missed...
      Speaker: Richard O'Hara, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2014
      87
      MAY 28, 2014 | 6:00 AM
      How to Improve Healthcare with More Effective Clinical Laboratory Test Utilization
      How to Improve Healthcare with More Effective Clinical Laboratory...
      Due to the large increase in the number and complexity of clinical laboratory tests, optimal use of laboratory testing services has presented many challenges. The Clinical Laboratory Integrat...
      Speaker: Julie R Taylor, PhD, MS
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2014
      184
      MAY 28, 2014 | 6:00 AM
      The new role for HPV DNA testing: cobas HPV Test as a first-line cervical cancer screen
      The new role for HPV DNA testing: cobas HPV Test as a first-line...
      For the last 60 years the primary method of preventing cervical cancer in both the U.S. and Europe has been cervical cytology -- if it is negative, women are rescreen in three years and if po...
      Speaker: Julia Engstrom-Melnyk, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2014
      13
      MAR 20, 2014 | 2:00 PM
      Genetics of Parkinsons disease
      Genetics of Parkinsons disease
      Parkinsons disease is the most common neurodegenerative movement disorder. Over the past few years, studies have identified a number of genes that cause or contribute to the pathogenesis of t...
      Speaker: Katerina Venderova, PhD
      Presented at: Neuroscience Virtual Event Series 2014
      0
      MAR 20, 2014 | 2:00 PM
      Cross-talk &amp; Developmental Programs A Key to Translational Stem Cell Biology
      Cross-talk &amp; Developmental Programs A Key to Translational...
      The therapeutic utility of stem cells is rooted in an understanding -- and exploitation -- of their natural role from earliest development to lifes end. Their job is first to participate in o...
      Speaker: Evan W. Snyder, M.D., Ph.D., F.A.A.P
      Presented at: Neuroscience Virtual Event Series 2014
      94
      MAR 20, 2014 | 1:00 PM
      The role of high throughput sequencing in the research and diagnosis of neurodegenerative disorders
      The role of high throughput sequencing in the research and diagnosis...
      Using high throughput next-generation sequencing to simultaneously search large number of genes for pathogenic mutations has numerous advantages. It decreases the pressure to narrow the dif...
      Speaker: Peter L Nagy, MD, PhD
      Presented at: Neuroscience Virtual Event Series 2014
      0
      MAR 20, 2014 | 1:00 PM
      Neurogenesis, cognitive dysfunction and Alzheimer's disease
      Neurogenesis, cognitive dysfunction and Alzheimer's disease
      Neural stem cells exist in the adult mammalian brain throughout life. They reside in the subgranular layer of the dentate gyrus and in the subventricular zone. Neural stem cells have the capa...
      Speaker: Orly Lazarov, PhD
      Presented at: Neuroscience Virtual Event Series 2014
      124
      MAR 20, 2014 | 12:00 PM
      The Genetics of Alzheimer's disease
      The Genetics of Alzheimer's disease
      Alzheimers disease (AD) is a common neurodegenerative disorder characterized clinically by progress decline in memory and thinking and pathologically by the presence of senile plaques and neu...
      Speaker: Alison Goate, D.Phil
      Presented at: Neuroscience Virtual Event Series 2014
      68
      MAR 20, 2014 | 10:00 AM
      Impairments of brain network connectivity in autism
      Impairments of brain network connectivity in autism
      With a rising prevalence recently exceeding 1%, autism spectrum disorder (ASD) has become a pressing public health issue. Crucial hurdles on the way to targeted treatments are (i) the relianc...
      Speaker: Ralph-Axel Mueller, PhD
      Presented at: Neuroscience Virtual Event Series 2014
      94
      MAR 20, 2014 | 10:00 AM
      Neuroimaging Informatics: Distributed Resources for 'Big' Cognition
      Neuroimaging Informatics: Distributed Resources for 'Big' Cognition
      Neuroimaging plays a large role in our pursuit of the understanding of behavior and cognition in health and disease. The past decade has seen the emergence of a wealth of resources that suppo...
      Speaker: David N. Kennedy, PhD
      Presented at: Neuroscience Virtual Event Series 2014
      40
      MAR 20, 2014 | 9:00 AM
      BRAIN Initiative Panel Discussion - funding overview
      BRAIN Initiative Panel Discussion - funding overview
      The Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative is part of a new Presidential focus aimed at revolutionizing our understanding of the human brain. By acce...
      Speaker: Story Landis, PhD, Thomas R. Insel, MD, Justin Sanchez, PhD, John C. Wingfield
      Presented at: Neuroscience Virtual Event Series 2014
      102
      MAR 20, 2014 | 8:00 AM
      Cross-talk & Developmental Programs A Key to Translational Stem Cell Biology
      Cross-talk & Developmental Programs A Key to Translational Stem...
      The therapeutic utility of stem cells is rooted in an understanding -- and exploitation -- of their natural role from earliest development to lifes end. Their job is first to participate in o...
      Speaker: Evan W. Snyder, M.D., Ph.D., F.A.A.P
      Presented at: Beckman Coulter Life Sciences Virtual Trade Show
      Sponsored By: Beckman Coulter Life Sciences, Beckman Coulter Life Sciences
      1
      MAR 20, 2014 | 7:00 AM
      Huntingtons Disease: Twenty years and counting
      Huntingtons Disease: Twenty years and counting
      Huntington's disease (HD) is a progressive, inherited, degenerative brain disorder that produces physical, mental and emotional changes. Named for George Huntington, the physician who fi...
      Speaker: Margaret Sutherland, PhD
      Presented at: Neuroscience Virtual Event Series 2014
      106
      MAR 20, 2014 | 7:00 AM
      Tools for Mapping Brain Computations
      Tools for Mapping Brain Computations
      The brain is a complex, densely wired circuit made out of heterogeneous cells, which vary in their shapes, molecular composition, and patterns of connectivity. In order to help discover how n...
      Speaker: Edward S. Boyden, PhD
      Presented at: Neuroscience Virtual Event Series 2014
      62
      MAR 20, 2014 | 6:00 AM
      Connectomics - Defining Neural Circuits to Understand Brain Function
      Connectomics - Defining Neural Circuits to Understand Brain Function
      Connectomics is a new field of research that aims to map the synapses of the nervous system in order to construct a wiring diagram of all the neural circuits. It is necessary to use the elect...
      Speaker: Scott W. Emmons, PhD
      Presented at: Neuroscience Virtual Event Series 2014
      54
      MAR 19, 2014 | 1:00 PM
      ABCA1 and APOE: Intertwined roles in Alzheimers disease
      ABCA1 and APOE: Intertwined roles in Alzheimers disease
      ATP-binding cassette transporter A1 (ABCA1) mediates cholesterol efflux to lipid-free apolipoproteins such as apolipoprotein A-I (apoA-I) and apolipoprotein E (apoE). ABCA1 is essential regul...
      Speaker: Radosveta Koldamova, MD, PhD
      Presented at: Neuroscience Virtual Event Series 2014
      56
      MAR 19, 2014 | 10:00 AM
      MS Bioscreen: From the Bedside to the Bench and Back
      MS Bioscreen: From the Bedside to the Bench and Back
      We present a personalized medicine suite of software applications developed at UCSF for multiple sclerosis (MS): the MS Bioscreen. This new tool addresses the challenges of the dynamic manage...
      Speaker: Pierre-Antoine Gourraud, PhD, MPH
      Presented at: Neuroscience Virtual Event Series 2014
      25
      FEB 28, 2014 | 9:00 AM
      C.E. CREDITS
      A Comprehensive Array of Gene Panels Targeting Rare Inherited Disease Research
      A Comprehensive Array of Gene Panels Targeting Rare Inherited...
      ...
      Speaker: Corina Shtir, PhD
      Presented at: Advanced Genomics in Clinical and Translational Research - Rare Disease Day
      44
      FEB 28, 2014 | 8:00 AM
      C.E. CREDITS
      Panel - Universal Newborn Screening Research for Severe Combined Immunodeficiency
      Panel - Universal Newborn Screening Research for Severe Combined...
      ...
      Speaker: Jelili Ojodu, MPH, Mei Baker, MD, Anne Comeau, PhD
      Presented at: Advanced Genomics in Clinical and Translational Research - Rare Disease Day
      30
      FEB 05, 2014 | 5:00 PM
      Designing a health - monitoring programme for laboratory mice
      Designing a health - monitoring programme for laboratory mice
      Monitoring the health of laboratory rodents is an important tool for improving the quality of animals used in research. However not all animal facilities have the same requirements, and an ex...
      Speaker: Jenny Kingham, BVSc, MACVSc ( Lab Anim)
      Presented at: Laboratory Animal Sciences Virtual Event Series 2014
      0
      FEB 05, 2014 | 4:00 PM
      Cryopreservation: a cold solution
      Cryopreservation: a cold solution
      The popularity reached by the genetic manipulation of laboratory animals to create new models for studying human diseases, produced in turn, that the techniques for assisted reproduction cons...
      Speaker: Jorge Sztein, DVM, PhD
      Presented at: Laboratory Animal Sciences Virtual Event Series 2014
      0
    AUG 20, 2014 | 8:00 AM
    Exploring Complex Structural Genomic Variation using Next-Gen Sequencing
    Exploring Complex Structural Genomic Variation using Next-Gen...
    Structural variants (SVs), defined as the deletion, duplication, insertion, inversion or translocation of genomic regions, are both a major source of genetic diversity in human populations an...
    Speaker: Ryan E. Mills, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    12
    JUN 26, 2014 | 10:00 AM
    Immunoassay Serology Treponemal Screen
    Immunoassay Serology Treponemal Screen
    Serology testing continues to be an indispensable tool for the management of several disease states, especially treponemal screening to monitor syphilis infection in the US. Come to this edu...
    Speaker: Tiffany MacKenzie, PhD
    Presented at: Discover More; Your Virtual Resource
    Diasorin
    53
    MAY 28, 2014 | 10:30 AM
    Early infantile rickets: A new look at an old disease and mimic of child abuse
    Early infantile rickets: A new look at an old disease and mimic...
    Early infantile rickets is the least appreciated form of this ancient disease of children. Although it is usually subclinical, the high prevalence recently reported at autopsy (87% < 1 yea...
    Speaker: David Ayoub, MD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2014
    198
    MAY 28, 2014 | 10:30 AM
    Heavy/Light Chain Combination Assays: What Laboratories should know about M-Protein detection
    Heavy/Light Chain Combination Assays: What Laboratories should...
    Traditional testing methods for monoclonal protein in Plasma Cell Dyscrasias correctly identify a majority of patients. However, limitations in these methods can cause patients to be missed...
    Speaker: Richard O'Hara, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2014
    87
    MAY 28, 2014 | 6:00 AM
    How to Improve Healthcare with More Effective Clinical Laboratory Test Utilization
    How to Improve Healthcare with More Effective Clinical Laboratory...
    Due to the large increase in the number and complexity of clinical laboratory tests, optimal use of laboratory testing services has presented many challenges. The Clinical Laboratory Integrat...
    Speaker: Julie R Taylor, PhD, MS
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2014
    184
     
     
  • MAY 28, 2014 | 6:00 AM
    The new role for HPV DNA testing: cobas HPV Test as a first-line cervical cancer screen
    The new role for HPV DNA testing: cobas HPV Test as a first-line...
    For the last 60 years the primary method of preventing cervical cancer in both the U.S. and Europe has been cervical cytology -- if it is negative, women are rescreen in three years and if po...
    Speaker: Julia Engstrom-Melnyk, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2014
    13
    MAR 20, 2014 | 2:00 PM
    Genetics of Parkinsons disease
    Genetics of Parkinsons disease
    Parkinsons disease is the most common neurodegenerative movement disorder. Over the past few years, studies have identified a number of genes that cause or contribute to the pathogenesis of t...
    Speaker: Katerina Venderova, PhD
    Presented at: Neuroscience Virtual Event Series 2014
    0
    MAR 20, 2014 | 2:00 PM
    Cross-talk &amp; Developmental Programs A Key to Translational Stem Cell Biology
    Cross-talk &amp; Developmental Programs A Key to Translational...
    The therapeutic utility of stem cells is rooted in an understanding -- and exploitation -- of their natural role from earliest development to lifes end. Their job is first to participate in o...
    Speaker: Evan W. Snyder, M.D., Ph.D., F.A.A.P
    Presented at: Neuroscience Virtual Event Series 2014
    94
    MAR 20, 2014 | 1:00 PM
    The role of high throughput sequencing in the research and diagnosis of neurodegenerative disorders
    The role of high throughput sequencing in the research and diagnosis...
    Using high throughput next-generation sequencing to simultaneously search large number of genes for pathogenic mutations has numerous advantages. It decreases the pressure to narrow the dif...
    Speaker: Peter L Nagy, MD, PhD
    Presented at: Neuroscience Virtual Event Series 2014
    0
    MAR 20, 2014 | 1:00 PM
    Neurogenesis, cognitive dysfunction and Alzheimer's disease
    Neurogenesis, cognitive dysfunction and Alzheimer's disease
    Neural stem cells exist in the adult mammalian brain throughout life. They reside in the subgranular layer of the dentate gyrus and in the subventricular zone. Neural stem cells have the capa...
    Speaker: Orly Lazarov, PhD
    Presented at: Neuroscience Virtual Event Series 2014
    124
     
     
  • MAR 20, 2014 | 12:00 PM
    The Genetics of Alzheimer's disease
    The Genetics of Alzheimer's disease
    Alzheimers disease (AD) is a common neurodegenerative disorder characterized clinically by progress decline in memory and thinking and pathologically by the presence of senile plaques and neu...
    Speaker: Alison Goate, D.Phil
    Presented at: Neuroscience Virtual Event Series 2014
    68
    MAR 20, 2014 | 10:00 AM
    Impairments of brain network connectivity in autism
    Impairments of brain network connectivity in autism
    With a rising prevalence recently exceeding 1%, autism spectrum disorder (ASD) has become a pressing public health issue. Crucial hurdles on the way to targeted treatments are (i) the relianc...
    Speaker: Ralph-Axel Mueller, PhD
    Presented at: Neuroscience Virtual Event Series 2014
    94
    MAR 20, 2014 | 10:00 AM
    Neuroimaging Informatics: Distributed Resources for 'Big' Cognition
    Neuroimaging Informatics: Distributed Resources for 'Big' Cognition
    Neuroimaging plays a large role in our pursuit of the understanding of behavior and cognition in health and disease. The past decade has seen the emergence of a wealth of resources that suppo...
    Speaker: David N. Kennedy, PhD
    Presented at: Neuroscience Virtual Event Series 2014
    40
    MAR 20, 2014 | 9:00 AM
    BRAIN Initiative Panel Discussion - funding overview
    BRAIN Initiative Panel Discussion - funding overview
    The Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative is part of a new Presidential focus aimed at revolutionizing our understanding of the human brain. By acce...
    Speaker: Story Landis, PhD, Thomas R. Insel, MD, Justin Sanchez, PhD, John C. Wingfield
    Presented at: Neuroscience Virtual Event Series 2014
    102
    MAR 20, 2014 | 8:00 AM
    Cross-talk & Developmental Programs A Key to Translational Stem Cell Biology
    Cross-talk & Developmental Programs A Key to Translational Stem...
    The therapeutic utility of stem cells is rooted in an understanding -- and exploitation -- of their natural role from earliest development to lifes end. Their job is first to participate in o...
    Speaker: Evan W. Snyder, M.D., Ph.D., F.A.A.P
    Presented at: Beckman Coulter Life Sciences Virtual Trade Show
    Sponsored By: Beckman Coulter Life Sciences, Beckman Coulter Life Sciences
    1
     
     
  • MAR 20, 2014 | 7:00 AM
    Huntingtons Disease: Twenty years and counting
    Huntingtons Disease: Twenty years and counting
    Huntington's disease (HD) is a progressive, inherited, degenerative brain disorder that produces physical, mental and emotional changes. Named for George Huntington, the physician who fi...
    Speaker: Margaret Sutherland, PhD
    Presented at: Neuroscience Virtual Event Series 2014
    106
    MAR 20, 2014 | 7:00 AM
    Tools for Mapping Brain Computations
    Tools for Mapping Brain Computations
    The brain is a complex, densely wired circuit made out of heterogeneous cells, which vary in their shapes, molecular composition, and patterns of connectivity. In order to help discover how n...
    Speaker: Edward S. Boyden, PhD
    Presented at: Neuroscience Virtual Event Series 2014
    62
    MAR 20, 2014 | 6:00 AM
    Connectomics - Defining Neural Circuits to Understand Brain Function
    Connectomics - Defining Neural Circuits to Understand Brain Function
    Connectomics is a new field of research that aims to map the synapses of the nervous system in order to construct a wiring diagram of all the neural circuits. It is necessary to use the elect...
    Speaker: Scott W. Emmons, PhD
    Presented at: Neuroscience Virtual Event Series 2014
    54
    MAR 19, 2014 | 1:00 PM
    ABCA1 and APOE: Intertwined roles in Alzheimers disease
    ABCA1 and APOE: Intertwined roles in Alzheimers disease
    ATP-binding cassette transporter A1 (ABCA1) mediates cholesterol efflux to lipid-free apolipoproteins such as apolipoprotein A-I (apoA-I) and apolipoprotein E (apoE). ABCA1 is essential regul...
    Speaker: Radosveta Koldamova, MD, PhD
    Presented at: Neuroscience Virtual Event Series 2014
    56
    MAR 19, 2014 | 10:00 AM
    MS Bioscreen: From the Bedside to the Bench and Back
    MS Bioscreen: From the Bedside to the Bench and Back
    We present a personalized medicine suite of software applications developed at UCSF for multiple sclerosis (MS): the MS Bioscreen. This new tool addresses the challenges of the dynamic manage...
    Speaker: Pierre-Antoine Gourraud, PhD, MPH
    Presented at: Neuroscience Virtual Event Series 2014
    25
     
     
  • FEB 28, 2014 | 9:00 AM
    C.E. CREDITS
    A Comprehensive Array of Gene Panels Targeting Rare Inherited Disease Research
    A Comprehensive Array of Gene Panels Targeting Rare Inherited...
    ...
    Speaker: Corina Shtir, PhD
    Presented at: Advanced Genomics in Clinical and Translational Research - Rare Disease Day
    44
    FEB 28, 2014 | 8:00 AM
    C.E. CREDITS
    Panel - Universal Newborn Screening Research for Severe Combined Immunodeficiency
    Panel - Universal Newborn Screening Research for Severe Combined...
    ...
    Speaker: Jelili Ojodu, MPH, Mei Baker, MD, Anne Comeau, PhD
    Presented at: Advanced Genomics in Clinical and Translational Research - Rare Disease Day
    30
    FEB 05, 2014 | 5:00 PM
    Designing a health - monitoring programme for laboratory mice
    Designing a health - monitoring programme for laboratory mice
    Monitoring the health of laboratory rodents is an important tool for improving the quality of animals used in research. However not all animal facilities have the same requirements, and an ex...
    Speaker: Jenny Kingham, BVSc, MACVSc ( Lab Anim)
    Presented at: Laboratory Animal Sciences Virtual Event Series 2014
    0
    FEB 05, 2014 | 4:00 PM
    Cryopreservation: a cold solution
    Cryopreservation: a cold solution
    The popularity reached by the genetic manipulation of laboratory animals to create new models for studying human diseases, produced in turn, that the techniques for assisted reproduction cons...
    Speaker: Jorge Sztein, DVM, PhD
    Presented at: Laboratory Animal Sciences Virtual Event Series 2014
    0
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