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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

    • APR 07, 2016 | 1:30 PM
      Introduction to exosomes and other extracellular vesicles the "the bodies molecular internet" for personalized & precision medicine.
      Introduction to exosomes and other extracellular vesicles the...
      A recently discovered communication system used by cells to send messages across the human body promises to revolutionize our understanding of disease and how we treat it. Technologies based...
      Speaker: Rey Magana
      Presented at: Molecular Diagnostics Virtual Event Series 2016
      2 1
      APR 07, 2016 | 10:00 AM
      Molecular Medicine in Healthcare: The Personalized Medicine Initiative
      Molecular Medicine in Healthcare: The Personalized Medicine Initiative
      The Personalized Medicine Initiative (PMI) is a non-profit enterprise based in Vancouver, Canada that is focused on introducing personalized, molecularly-based medicine into the front lines o...
      Speaker: Pieter Cullis, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2016
      4
      APR 06, 2016 | 1:30 PM
      Validation and Implementation of Whole-Exome Sequencing to Guide Precision Cancer Care
      Validation and Implementation of Whole-Exome Sequencing to Guide...
      Cancer remains the second leading cause of death in the United States.  Most tumors arise from a myriad of genetic changes that dysregulate cell growth and prompt survival.  Ident...
      Speaker: Hanna Rennert, PhD, F.A.C.M.G
      Presented at: Molecular Diagnostics Virtual Event Series 2016
      4
      APR 06, 2016 | 9:00 AM
      Liquid biopsy and NGS: moving from sample to insight
      Liquid biopsy and NGS: moving from sample to insight
      Success of the personalized medicine strategy depends on our ability to access the genetic variance landscape continuously before, during and after treatment.  Liquid biopsies provide us...
      Speaker: Raed Samara, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2016
      4
      MAR 29, 2016 | 8:00 AM
      WEBINAR: Applications of Targeted Gene Panels in Inherited Disease Research
      WEBINAR: Applications of Targeted Gene Panels in Inherited Disease...
      Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes...
      Speaker: Brian Meyer, PhD , Robert Sebra, PhD
      Sponsored By: Thermo Fisher Scientific - Ion Torrent, Thermo Fisher Scientific - Ion Torrent
      11 3
      MAR 22, 2016 | 11:30 AM
      Tu nuevo mejor amigo: Tu relación con el laboratorio de genética
      Tu nuevo mejor amigo: Tu relación con el laboratorio de genética
      Esta sesión le brindara ejemplos de estudios genéticos que son frecuentemente solicitados y que información pueden brindar al medico y al paciente. Los conferencistas ex...
      Speaker: Carlos Bacino, MD
      Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
      2
      MAR 22, 2016 | 9:30 AM
      Tales from the Clinic
      Tales from the Clinic
      Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been ...
      Speaker: Fuki Hisama, MD, FACMG, FAAN , Eric Konnick, MD, MS , Laura Amendola, MS CGC
      Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
      3
      MAR 22, 2016 | 8:15 AM
      The Top Ten Laboratory Tests
      The Top Ten Laboratory Tests
      Genetic testing has been an important component of medical care for decades but the breadth and impact of testing has been steadily increasing as medical knowledge increases, appreciation of ...
      Speaker: Katherine Rauen, MD, MS, PhD , Robert Nussbaum, MD
      Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
      2
      MAR 22, 2016 | 7:00 AM
      C.E. CREDITS
      From History to Action
      From History to Action
      Family history can be viewed as the first stop in the assessment of genetic risks for any individual. For many genetic disorders there will be no obvious signs of symptoms until significant m...
      Speaker: Bruce R. Korf, MD, PhD
      Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
      3 2
      MAR 17, 2016 | 1:30 PM
      Special Lecturer - Unlocking the power of the infant brain
      Special Lecturer - Unlocking the power of the infant brain
      Maturing neural circuits are dramatically shaped by the environment, but this timing varies across brain regions and plasticity declines with age. Focusing on cellular/molecular mechanisms un...
      Speaker: Takao Hensch, PhD
      Presented at: Neuroscience Virtual Event Series 2016
      3
      MAR 17, 2016 | 10:30 AM
      Special Lecturer - The Teen Brain: Insights from Neuroimaging
      Special Lecturer - The Teen Brain: Insights from Neuroimaging
      The adolescent brain has been forged by evolution to have different features than those of a child or an adult, but it is not broken or defective.  Phenomenal ability to adapt to environ...
      Speaker: Jay Giedd, PhD
      Presented at: Neuroscience Virtual Event Series 2016
      2
      MAR 17, 2016 | 10:30 AM
      Promise and challenges of iPSC modeling in Parkinson's disease
      Promise and challenges of iPSC modeling in Parkinson's disease
      Given the challenges of replicating Parkinson’s disease in animal models, returning to models that are human-based and highly clinically characterized may provide the most successful pa...
      Speaker: Birgitt Schuele, MD
      Presented at: Neuroscience Virtual Event Series 2016
      2
      MAR 17, 2016 | 7:30 AM
      Special Lecturer - NMDAR dysfunction in schizophrenia:  Implications for pathophysiology and basic neuroscience
      Special Lecturer - NMDAR dysfunction in schizophrenia: Implications...
      Schizophrenia (Sz) is a major mental disorder that affects ~1% of the population.  Although traditional models of Sz focused on dopaminergic dysfunction, newer models increasingly implic...
      Speaker: Daniel Javitt, MD, PhD
      Presented at: Neuroscience Virtual Event Series 2016
      2
      MAR 16, 2016 | 10:30 AM
      Future of Psychopharmacology:  Is New Treatment Innovation "Dead?"
      Future of Psychopharmacology: Is New Treatment Innovation "Dead?"
      Innovation in Psychopharmacology is Dead. Long Live Innovation in Psychopharmacology!  What’s going on in our field?  Priorities of Big Pharma shifting away fr...
      Speaker: Stephen Stahl, PhD
      Presented at: Neuroscience Virtual Event Series 2016
      2
      MAR 16, 2016 | 10:30 AM
      Keynote Speaker - Regulation and Function of Neurogenesis in the Adult Hippocampus
      Keynote Speaker - Regulation and Function of Neurogenesis in the...
      In the adult central nervous system (CNS) small populations of neurons are formed in the adult olfactory bulb and dentate gyrus of the hippocampus. In the adult hippocampus, newly born neuron...
      Speaker: Fred Gage, PhD
      Presented at: Neuroscience Virtual Event Series 2016
      4
      MAR 16, 2016 | 7:30 AM
      The Benefits of Combining Optogenetics, Microscopy and Electrophysiology
      The Benefits of Combining Optogenetics, Microscopy and Electrophysiology
      Optogenetics or optophysiology is a rapidly growing technique used across an ever broadening array of research fields. Investigators now genetically modify many signalling pathway elements to...
      Speaker: Geraint Wilde, PhD
      Presented at: Neuroscience Virtual Event Series 2016
      2
      FEB 24, 2016 | 3:00 PM
      Bringing precision medicine in oncology to South Africa
      Bringing precision medicine in oncology to South Africa
      The greatest health epidemic of our time is cancer. Deaths from cancer worldwide outnumber the combined deaths from HIV/AIDS, tuberculosis and malaria by a wide margin. There are at least 100...
      Speaker: Musa Mhlanga, PhD
      Presented at: Precision Medicine Virtual Event Series 2016
      2
      FEB 24, 2016 | 2:00 PM
      Why we should clinically classify genotypes, not variants
      Why we should clinically classify genotypes, not variants
      A century and a half after we first probed heritability, we risk forgetting one of Mendel's own basic findings, in rushing to broaden clinical genomics to lifelong care for all. Embracing...
      Speaker: Nathaniel Pearson, PhD
      Presented at: Precision Medicine Virtual Event Series 2016
      2
      FEB 24, 2016 | 1:00 PM
      From genomics to precision medicine: Uncovering and manipulating the genetic circuits underlying common disease
      From genomics to precision medicine: Uncovering and manipulating...
      Precision medicine requires understanding the mechanistic basis of complex disorders, and to precisely manipulate these mechanisms to better human health. This is partly enabled by the recent...
      Speaker: Manolis Kellis, PhD
      Presented at: Precision Medicine Virtual Event Series 2016
      2
      FEB 24, 2016 | 12:00 PM
      G-DOC Plus: A Data Science Platform for Precision Medicine Research
      G-DOC Plus: A Data Science Platform for Precision Medicine Research
      The advent of the microarray technology in 2000 has paved the way for advanced translational research methods that use molecular markers such as microRNA, proteins, metabolites and copy numbe...
      Speaker: Subha Madhavan, PhD
      Presented at: Precision Medicine Virtual Event Series 2016
      2
      FEB 24, 2016 | 11:00 AM
      Precision Ferroptosis Inducers: Death by Lipid Peroxidation
      Precision Ferroptosis Inducers: Death by Lipid Peroxidation
      Cell death is involved in diseases such as cancer and neurodegeneration, and also has a natural role in the development of multicellular organisms. Although apoptosis has been well defined, a...
      Speaker: Brent Stockwell, PhD
      Presented at: Precision Medicine Virtual Event Series 2016
      2
      FEB 24, 2016 | 10:00 AM
      Harnessing the Power of Healthcare Data with Causal Machine Learning to drive Personalized and Effective Treatment Interventions
      Harnessing the Power of Healthcare Data with Causal Machine Learning...
      Every day, vast amounts of healthcare data are collected from clinical trials as well as real world medical visits on patient treatment regimens and subsequent clinical outcomes. This big dat...
      Speaker: Iya Khalil, PhD
      Presented at: Precision Medicine Virtual Event Series 2016
      2
      FEB 24, 2016 | 8:00 AM
      Keynote Presentation - Integrating the digital universe of data with consumer-driven mobile apps and large-scale panomics data to better understand, treat, and prevent disease
      Keynote Presentation - Integrating the digital universe of data...
      One of the primary goals of precision medicine is the aggregation and interpretation of deep, longitudinal patient-specific data in the context of the digital universe of information, using a...
      Speaker: Eric Schadt, PhD
      Presented at: Precision Medicine Virtual Event Series 2016
      2
      FEB 24, 2016 | 7:00 AM
      Towards precision medicine
      Towards precision medicine
      Understanding disease at a deeper level so that it can be targeted more precisely is the essence of precision medicine. Rapid technological advance, particularly in genomics and sensor-based...
      Speaker: Euan Ashley, MRCP, DPhil
      Presented at: Precision Medicine Virtual Event Series 2016
      2
    APR 07, 2016 | 1:30 PM
    Introduction to exosomes and other extracellular vesicles the "the bodies molecular internet" for personalized & precision medicine.
    Introduction to exosomes and other extracellular vesicles the...
    A recently discovered communication system used by cells to send messages across the human body promises to revolutionize our understanding of disease and how we treat it. Technologies based...
    Speaker: Rey Magana
    Presented at: Molecular Diagnostics Virtual Event Series 2016
    2 1
    APR 07, 2016 | 10:00 AM
    Molecular Medicine in Healthcare: The Personalized Medicine Initiative
    Molecular Medicine in Healthcare: The Personalized Medicine Initiative
    The Personalized Medicine Initiative (PMI) is a non-profit enterprise based in Vancouver, Canada that is focused on introducing personalized, molecularly-based medicine into the front lines o...
    Speaker: Pieter Cullis, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2016
    4
    APR 06, 2016 | 1:30 PM
    Validation and Implementation of Whole-Exome Sequencing to Guide Precision Cancer Care
    Validation and Implementation of Whole-Exome Sequencing to Guide...
    Cancer remains the second leading cause of death in the United States.  Most tumors arise from a myriad of genetic changes that dysregulate cell growth and prompt survival.  Ident...
    Speaker: Hanna Rennert, PhD, F.A.C.M.G
    Presented at: Molecular Diagnostics Virtual Event Series 2016
    4
    APR 06, 2016 | 9:00 AM
    Liquid biopsy and NGS: moving from sample to insight
    Liquid biopsy and NGS: moving from sample to insight
    Success of the personalized medicine strategy depends on our ability to access the genetic variance landscape continuously before, during and after treatment.  Liquid biopsies provide us...
    Speaker: Raed Samara, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2016
    4
    MAR 29, 2016 | 8:00 AM
    WEBINAR: Applications of Targeted Gene Panels in Inherited Disease Research
    WEBINAR: Applications of Targeted Gene Panels in Inherited Disease...
    Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes...
    Speaker: Brian Meyer, PhD , Robert Sebra, PhD
    Sponsored By: Thermo Fisher Scientific - Ion Torrent, Thermo Fisher Scientific - Ion Torrent
    11 3
     
     
  • MAR 22, 2016 | 11:30 AM
    Tu nuevo mejor amigo: Tu relación con el laboratorio de genética
    Tu nuevo mejor amigo: Tu relación con el laboratorio de genética
    Esta sesión le brindara ejemplos de estudios genéticos que son frecuentemente solicitados y que información pueden brindar al medico y al paciente. Los conferencistas ex...
    Speaker: Carlos Bacino, MD
    Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
    2
    MAR 22, 2016 | 9:30 AM
    Tales from the Clinic
    Tales from the Clinic
    Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been ...
    Speaker: Fuki Hisama, MD, FACMG, FAAN , Eric Konnick, MD, MS , Laura Amendola, MS CGC
    Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
    3
    MAR 22, 2016 | 8:15 AM
    The Top Ten Laboratory Tests
    The Top Ten Laboratory Tests
    Genetic testing has been an important component of medical care for decades but the breadth and impact of testing has been steadily increasing as medical knowledge increases, appreciation of ...
    Speaker: Katherine Rauen, MD, MS, PhD , Robert Nussbaum, MD
    Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
    2
    MAR 22, 2016 | 7:00 AM
    C.E. CREDITS
    From History to Action
    From History to Action
    Family history can be viewed as the first stop in the assessment of genetic risks for any individual. For many genetic disorders there will be no obvious signs of symptoms until significant m...
    Speaker: Bruce R. Korf, MD, PhD
    Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
    3 2
    MAR 17, 2016 | 1:30 PM
    Special Lecturer - Unlocking the power of the infant brain
    Special Lecturer - Unlocking the power of the infant brain
    Maturing neural circuits are dramatically shaped by the environment, but this timing varies across brain regions and plasticity declines with age. Focusing on cellular/molecular mechanisms un...
    Speaker: Takao Hensch, PhD
    Presented at: Neuroscience Virtual Event Series 2016
    3
     
     
  • MAR 17, 2016 | 10:30 AM
    Special Lecturer - The Teen Brain: Insights from Neuroimaging
    Special Lecturer - The Teen Brain: Insights from Neuroimaging
    The adolescent brain has been forged by evolution to have different features than those of a child or an adult, but it is not broken or defective.  Phenomenal ability to adapt to environ...
    Speaker: Jay Giedd, PhD
    Presented at: Neuroscience Virtual Event Series 2016
    2
    MAR 17, 2016 | 10:30 AM
    Promise and challenges of iPSC modeling in Parkinson's disease
    Promise and challenges of iPSC modeling in Parkinson's disease
    Given the challenges of replicating Parkinson’s disease in animal models, returning to models that are human-based and highly clinically characterized may provide the most successful pa...
    Speaker: Birgitt Schuele, MD
    Presented at: Neuroscience Virtual Event Series 2016
    2
    MAR 17, 2016 | 7:30 AM
    Special Lecturer - NMDAR dysfunction in schizophrenia:  Implications for pathophysiology and basic neuroscience
    Special Lecturer - NMDAR dysfunction in schizophrenia: Implications...
    Schizophrenia (Sz) is a major mental disorder that affects ~1% of the population.  Although traditional models of Sz focused on dopaminergic dysfunction, newer models increasingly implic...
    Speaker: Daniel Javitt, MD, PhD
    Presented at: Neuroscience Virtual Event Series 2016
    2
    MAR 16, 2016 | 10:30 AM
    Future of Psychopharmacology:  Is New Treatment Innovation "Dead?"
    Future of Psychopharmacology: Is New Treatment Innovation "Dead?"
    Innovation in Psychopharmacology is Dead. Long Live Innovation in Psychopharmacology!  What’s going on in our field?  Priorities of Big Pharma shifting away fr...
    Speaker: Stephen Stahl, PhD
    Presented at: Neuroscience Virtual Event Series 2016
    2
    MAR 16, 2016 | 10:30 AM
    Keynote Speaker - Regulation and Function of Neurogenesis in the Adult Hippocampus
    Keynote Speaker - Regulation and Function of Neurogenesis in the...
    In the adult central nervous system (CNS) small populations of neurons are formed in the adult olfactory bulb and dentate gyrus of the hippocampus. In the adult hippocampus, newly born neuron...
    Speaker: Fred Gage, PhD
    Presented at: Neuroscience Virtual Event Series 2016
    4
     
     
  • MAR 16, 2016 | 7:30 AM
    The Benefits of Combining Optogenetics, Microscopy and Electrophysiology
    The Benefits of Combining Optogenetics, Microscopy and Electrophysiology
    Optogenetics or optophysiology is a rapidly growing technique used across an ever broadening array of research fields. Investigators now genetically modify many signalling pathway elements to...
    Speaker: Geraint Wilde, PhD
    Presented at: Neuroscience Virtual Event Series 2016
    2
    FEB 24, 2016 | 3:00 PM
    Bringing precision medicine in oncology to South Africa
    Bringing precision medicine in oncology to South Africa
    The greatest health epidemic of our time is cancer. Deaths from cancer worldwide outnumber the combined deaths from HIV/AIDS, tuberculosis and malaria by a wide margin. There are at least 100...
    Speaker: Musa Mhlanga, PhD
    Presented at: Precision Medicine Virtual Event Series 2016
    2
    FEB 24, 2016 | 2:00 PM
    Why we should clinically classify genotypes, not variants
    Why we should clinically classify genotypes, not variants
    A century and a half after we first probed heritability, we risk forgetting one of Mendel's own basic findings, in rushing to broaden clinical genomics to lifelong care for all. Embracing...
    Speaker: Nathaniel Pearson, PhD
    Presented at: Precision Medicine Virtual Event Series 2016
    2
    FEB 24, 2016 | 1:00 PM
    From genomics to precision medicine: Uncovering and manipulating the genetic circuits underlying common disease
    From genomics to precision medicine: Uncovering and manipulating...
    Precision medicine requires understanding the mechanistic basis of complex disorders, and to precisely manipulate these mechanisms to better human health. This is partly enabled by the recent...
    Speaker: Manolis Kellis, PhD
    Presented at: Precision Medicine Virtual Event Series 2016
    2
    FEB 24, 2016 | 12:00 PM
    G-DOC Plus: A Data Science Platform for Precision Medicine Research
    G-DOC Plus: A Data Science Platform for Precision Medicine Research
    The advent of the microarray technology in 2000 has paved the way for advanced translational research methods that use molecular markers such as microRNA, proteins, metabolites and copy numbe...
    Speaker: Subha Madhavan, PhD
    Presented at: Precision Medicine Virtual Event Series 2016
    2
     
     
  • FEB 24, 2016 | 11:00 AM
    Precision Ferroptosis Inducers: Death by Lipid Peroxidation
    Precision Ferroptosis Inducers: Death by Lipid Peroxidation
    Cell death is involved in diseases such as cancer and neurodegeneration, and also has a natural role in the development of multicellular organisms. Although apoptosis has been well defined, a...
    Speaker: Brent Stockwell, PhD
    Presented at: Precision Medicine Virtual Event Series 2016
    2
    FEB 24, 2016 | 10:00 AM
    Harnessing the Power of Healthcare Data with Causal Machine Learning to drive Personalized and Effective Treatment Interventions
    Harnessing the Power of Healthcare Data with Causal Machine Learning...
    Every day, vast amounts of healthcare data are collected from clinical trials as well as real world medical visits on patient treatment regimens and subsequent clinical outcomes. This big dat...
    Speaker: Iya Khalil, PhD
    Presented at: Precision Medicine Virtual Event Series 2016
    2
    FEB 24, 2016 | 8:00 AM
    Keynote Presentation - Integrating the digital universe of data with consumer-driven mobile apps and large-scale panomics data to better understand, treat, and prevent disease
    Keynote Presentation - Integrating the digital universe of data...
    One of the primary goals of precision medicine is the aggregation and interpretation of deep, longitudinal patient-specific data in the context of the digital universe of information, using a...
    Speaker: Eric Schadt, PhD
    Presented at: Precision Medicine Virtual Event Series 2016
    2
    FEB 24, 2016 | 7:00 AM
    Towards precision medicine
    Towards precision medicine
    Understanding disease at a deeper level so that it can be targeted more precisely is the essence of precision medicine. Rapid technological advance, particularly in genomics and sensor-based...
    Speaker: Euan Ashley, MRCP, DPhil
    Presented at: Precision Medicine Virtual Event Series 2016
    2
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