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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

    • MAY 10, 2017 | 12:00 PM
      C.E. CREDITS
      Not all variants are created equal: what went wrong in the prediction of functional effects of exomic variation
      Not all variants are created equal: what went wrong in the prediction...
      Many computational approaches exist for predicting the effects of amino acid substitutions from protein sequence. These are often (incorrectly) used for judging disease predisposition from in...
      Speaker: Yana Bromberg, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
      MAY 10, 2017 | 12:00 PM
      Identifying genes "related to" or "specific for" a disease of interest
      Identifying genes "related to" or "specific for" a disease of...
      A plethora of methods and tools have been developed to identify genes differentially expressed between two compared conditions, such as "diseased versus healthy". For many scientist...
      Speaker: Philip Zimmerman, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      2
      MAY 10, 2017 | 9:00 AM
      C.E. CREDITS
      Keynote Presentation: Using Networks to Understand the Genotype-Phenotype Connection
      Keynote Presentation: Using Networks to Understand the Genotype-Phenotype...
      Genome Wide Association Studies (GWAS) and expression quantitative trait locus (eQTL) analyses have identified genetic associations with a wide range of human phenotypes. However, many of the...
      Speaker: John Quackenbush, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      2
      MAY 09, 2017 | 8:00 AM
      WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges and Opportunities
      WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges...
      DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
      Speaker: Hela Azaiez, PhD
      Sponsored By: Agilent
      11 8
      MAY 09, 2017 | 7:00 AM
      WEBINAR: Advanced assays for high-throughput assessment of ion channel inhibition and cardiac toxicity
      WEBINAR: Advanced assays for high-throughput assessment of ion...
      DATE: May 9th, 2017TIME: 7:00AM PDT, 10:00AM ET, 2:00PM GMT Early detection and elimination of new chemical entities with cardiac or hERG liability could substantially improve...
      Speaker: Beiyan Zou, PhD , Oksana Sirenko, PhD
      Sponsored By: Molecular Devices
      6
      MAY 01, 2017 | 8:00 AM
      Improved differentiation of stem cell-derived neurons and downstream applications through the reduction of progenitor proliferation with CultureOneâ„¢ Supplement
      Improved differentiation of stem cell-derived neurons and downstream...
      Neurons derived from human pluripotent stem cells (hPSCs) and primary rodent neurons both are excellent resources for disease modeling and drug screening.  Human PSCs derived neural stem...
      Speaker: David Kuninger, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      1
      APR 25, 2017 | 10:00 AM
      WEBINAR: Discover Potentially Predictive Immuno-Oncology Biomarkers using Next-Gen Sequencing
      WEBINAR: Discover Potentially Predictive Immuno-Oncology Biomarkers...
      DATE: April 25, 2017TIME: 10:00am PT, 1:00pm ETImmunotherapy has emerged as one of the most promising options for the future treatment of a growing number of cancers and is to...
      Speaker: Fiona Hyland , Carl Morrison MD, DVM
      Sponsored By: Thermo Fisher Scientific - Ion Torrent
      6 1
      APR 19, 2017 | 4:00 AM
      WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards improved testing systems
      WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards...
      DATE: April 20th, 2017TIME: 10:00AM SGT, 11:00AM KST, 12:00PM AEST, 2:00PM NZSTWith increasing breadth and depth of genomics studies across a range of cancers, it is now apparent that t...
      Speaker: Giridharan Periyasamy, PhD
      Sponsored By: Revvity
      8
      APR 13, 2017 | 9:00 AM
      Keynote Presentation - DNA Standards and Bioinformatics Benchmarks for Metagenomics
      Keynote Presentation - DNA Standards and Bioinformatics Benchmarks...
      Genomics and metagenomics have become ubiquitous research efforts.  Here we will show details of the development of physical, computational, and even space-based standards for metagenomi...
      Speaker: Christopher Mason, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2017
      2
      APR 12, 2017 | 7:30 AM
      Keynote Presentation - Variant interpretation in Molecular Diagnostics: Challenges and Knowledge Gaps
      Keynote Presentation - Variant interpretation in Molecular Diagnostics:...
      As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
      Speaker: Robert Nussbaum MD, FACP, FACMG
      Presented at: Molecular Diagnostics Virtual Event Series 2017
      5
      MAR 21, 2017 | 10:00 AM
      WEBINAR: Application of combined RNA in situ hybridization and multiplex immunohistochemistry to unravel tumor heterogeneity in prostate cancer
      WEBINAR: Application of combined RNA in situ hybridization and...
      DATE: March 21, 2017TIME: 10:00am PT, 1:00pm ETSponsored By:      Prostate cancer is a complex disease with multiple tumors originating independent...
      Speaker: Nallasivam Palanisamy, PhD , Courtney Anderson, PhD
      Sponsored By: Novus Biologicals a Bio-Techne Brand
      20 9
      MAR 16, 2017 | 1:30 PM
      Humans and fish to study the cellular mechanisms of neuromuscular development
      Humans and fish to study the cellular mechanisms of neuromuscular...
      Studying the genetics of rare congenital disorders disrupting cognitive function has led to the identification of multiple disease genes that helped us better understand the mechanisms underl...
      Speaker: Chiara Manzini, PhD
      Presented at: Neuroscience Virtual Event Series 2017
      1
      MAR 16, 2017 | 10:30 AM
      Refinement of epigenetic approaches in neuroscience
      Refinement of epigenetic approaches in neuroscience
      Epigenetics refers to the study of nuclear architecture and gene regulation. Epigenetic mechanisms govern many physiological processes such as cell differentiation, x-inactivation, and genomi...
      Speaker: Richard Lee, PhD
      Presented at: Neuroscience Virtual Event Series 2017
      Sponsored By: Agilent
      2
      MAR 15, 2017 | 1:30 PM
      New generation open source miniaturized microscopes for network dynamic imaging in freely moving mice
      New generation open source miniaturized microscopes for network...
      Miniaturized microscopes in combination with genetically encoded calcium indicators now allow recordings of activity from hundreds of neurons simultaneously in freely moving animals. We are b...
      Speaker: Peyman Golshani, MD, PhD
      Presented at: Neuroscience Virtual Event Series 2017
      2
      MAR 15, 2017 | 6:00 AM
      Prefrontal control of learned fear and avoidance
      Prefrontal control of learned fear and avoidance
      We are nearing three decades of research on the neural circuits of Pavlovian fear conditioning. The advent of new techniques such as genetic and optogenetic manipulations have greatly advance...
      Speaker: Gregory Quirk, PhD
      Presented at: Neuroscience Virtual Event Series 2017
      3
      FEB 23, 2017 | 1:30 PM
      Mining Dense, Dynamic Personal Data Clouds to Enhance Health
      Mining Dense, Dynamic Personal Data Clouds to Enhance Health
      Healthcare is becoming more proactive and data-rich than anything before possible – and will increasingly focus on maintaining and enhancing wellness more than just reacting to disease....
      Speaker: Nathan Price, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      4
      FEB 23, 2017 | 12:00 PM
      Recent progress in cellular medicine with an eye to precision medicine
      Recent progress in cellular medicine with an eye to precision...
      Despite vast investment for decades in cancer research and development, cancer is still among the leading causes of death worldwide and its toll is expected to rise by about 70% over the next...
      Speaker: Giacinto Scoles, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      2
      FEB 23, 2017 | 12:00 PM
      Novel Precision medicines that exploit Proximity
      Novel Precision medicines that exploit Proximity
      Cell growth and regulation involve vast networks of interacting DNAs, RNAs, proteins, lipids and sugars. Through a fundamental strategy of life, these interactions push multiple cellular proc...
      Speaker: James Prudent, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      3
      FEB 23, 2017 | 10:30 AM
      Clinical Whole Genome Sequencing In a Healthy Population
      Clinical Whole Genome Sequencing In a Healthy Population
      Clinical whole genome sequencing (cWGS) is rapidly gaining acceptance as cost is decreasing and success rates in identifying disease-causing variants are increasing. While the application of...
      Speaker: Erica Ramos, MS, CGC
      Presented at: Precision Medicine Virtual Event Series 2017
      3
      FEB 23, 2017 | 9:00 AM
      Metabolomics and its Role in Precision Medicine
      Metabolomics and its Role in Precision Medicine
      Although there have been enormous advances in gene sequencing, the results give massive amounts of data that only point to disease risk. Major health factors, including diet, lifestyle, envir...
      Speaker: John Ryals, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      4
      FEB 22, 2017 | 1:30 PM
      Integrating genomics platforms and data in Biobanks
      Integrating genomics platforms and data in Biobanks
      Biobanks are a powerful resource in the advancement of precision medicine, and integrating large scale genomics data across Biobank cohorts offer opportunities to further enhance and expedite...
      Speaker: Sami Amr, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      2
      FEB 22, 2017 | 12:00 PM
      From Bits to Bedside: Translating Big Data into Precision Medicine and Digital Health
      From Bits to Bedside: Translating Big Data into Precision Medicine...
      In this talk, I will use examples from my research using big data analytics to define ideals of precision medicine and digital health across a variety of diseases. Specifically, I will i...
      Speaker: Dexter Hadley, MD, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      3
      FEB 22, 2017 | 10:30 AM
      NGS live in your lab in 30 days
      NGS live in your lab in 30 days
      Identification of the many complex genetic aberrations associated with cancers, and deciphering their role in disease progression and response to treatment is one of the major challenges face...
      Speaker: Salim Essakali , Yi Kong, Ph.D.
      Presented at: Precision Medicine Virtual Event Series 2017
      2 2
      FEB 22, 2017 | 10:30 AM
      Beyond the hype: the evidence behind the role of genetics in drug response
      Beyond the hype: the evidence behind the role of genetics in drug...
      Much has been made in the popular press about importance of our "genes" in everything from our weight, intelligence, and our risk of disease.  While there is a scientific basis...
      Speaker: Matt Nelson, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      5
    MAY 10, 2017 | 12:00 PM
    C.E. CREDITS
    Not all variants are created equal: what went wrong in the prediction of functional effects of exomic variation
    Not all variants are created equal: what went wrong in the prediction...
    Many computational approaches exist for predicting the effects of amino acid substitutions from protein sequence. These are often (incorrectly) used for judging disease predisposition from in...
    Speaker: Yana Bromberg, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
    MAY 10, 2017 | 12:00 PM
    Identifying genes "related to" or "specific for" a disease of interest
    Identifying genes "related to" or "specific for" a disease of...
    A plethora of methods and tools have been developed to identify genes differentially expressed between two compared conditions, such as "diseased versus healthy". For many scientist...
    Speaker: Philip Zimmerman, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    2
    MAY 10, 2017 | 9:00 AM
    C.E. CREDITS
    Keynote Presentation: Using Networks to Understand the Genotype-Phenotype Connection
    Keynote Presentation: Using Networks to Understand the Genotype-Phenotype...
    Genome Wide Association Studies (GWAS) and expression quantitative trait locus (eQTL) analyses have identified genetic associations with a wide range of human phenotypes. However, many of the...
    Speaker: John Quackenbush, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    2
    MAY 09, 2017 | 8:00 AM
    WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges and Opportunities
    WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges...
    DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
    Speaker: Hela Azaiez, PhD
    Sponsored By: Agilent
    11 8
    MAY 09, 2017 | 7:00 AM
    WEBINAR: Advanced assays for high-throughput assessment of ion channel inhibition and cardiac toxicity
    WEBINAR: Advanced assays for high-throughput assessment of ion...
    DATE: May 9th, 2017TIME: 7:00AM PDT, 10:00AM ET, 2:00PM GMT Early detection and elimination of new chemical entities with cardiac or hERG liability could substantially improve...
    Speaker: Beiyan Zou, PhD , Oksana Sirenko, PhD
    Sponsored By: Molecular Devices
    6
     
     
  • MAY 01, 2017 | 8:00 AM
    Improved differentiation of stem cell-derived neurons and downstream applications through the reduction of progenitor proliferation with CultureOneâ„¢ Supplement
    Improved differentiation of stem cell-derived neurons and downstream...
    Neurons derived from human pluripotent stem cells (hPSCs) and primary rodent neurons both are excellent resources for disease modeling and drug screening.  Human PSCs derived neural stem...
    Speaker: David Kuninger, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    1
    APR 25, 2017 | 10:00 AM
    WEBINAR: Discover Potentially Predictive Immuno-Oncology Biomarkers using Next-Gen Sequencing
    WEBINAR: Discover Potentially Predictive Immuno-Oncology Biomarkers...
    DATE: April 25, 2017TIME: 10:00am PT, 1:00pm ETImmunotherapy has emerged as one of the most promising options for the future treatment of a growing number of cancers and is to...
    Speaker: Fiona Hyland , Carl Morrison MD, DVM
    Sponsored By: Thermo Fisher Scientific - Ion Torrent
    6 1
    APR 19, 2017 | 4:00 AM
    WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards improved testing systems
    WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards...
    DATE: April 20th, 2017TIME: 10:00AM SGT, 11:00AM KST, 12:00PM AEST, 2:00PM NZSTWith increasing breadth and depth of genomics studies across a range of cancers, it is now apparent that t...
    Speaker: Giridharan Periyasamy, PhD
    Sponsored By: Revvity
    8
    APR 13, 2017 | 9:00 AM
    Keynote Presentation - DNA Standards and Bioinformatics Benchmarks for Metagenomics
    Keynote Presentation - DNA Standards and Bioinformatics Benchmarks...
    Genomics and metagenomics have become ubiquitous research efforts.  Here we will show details of the development of physical, computational, and even space-based standards for metagenomi...
    Speaker: Christopher Mason, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2017
    2
    APR 12, 2017 | 7:30 AM
    Keynote Presentation - Variant interpretation in Molecular Diagnostics: Challenges and Knowledge Gaps
    Keynote Presentation - Variant interpretation in Molecular Diagnostics:...
    As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
    Speaker: Robert Nussbaum MD, FACP, FACMG
    Presented at: Molecular Diagnostics Virtual Event Series 2017
    5
     
     
  • MAR 21, 2017 | 10:00 AM
    WEBINAR: Application of combined RNA in situ hybridization and multiplex immunohistochemistry to unravel tumor heterogeneity in prostate cancer
    WEBINAR: Application of combined RNA in situ hybridization and...
    DATE: March 21, 2017TIME: 10:00am PT, 1:00pm ETSponsored By:      Prostate cancer is a complex disease with multiple tumors originating independent...
    Speaker: Nallasivam Palanisamy, PhD , Courtney Anderson, PhD
    Sponsored By: Novus Biologicals a Bio-Techne Brand
    20 9
    MAR 16, 2017 | 1:30 PM
    Humans and fish to study the cellular mechanisms of neuromuscular development
    Humans and fish to study the cellular mechanisms of neuromuscular...
    Studying the genetics of rare congenital disorders disrupting cognitive function has led to the identification of multiple disease genes that helped us better understand the mechanisms underl...
    Speaker: Chiara Manzini, PhD
    Presented at: Neuroscience Virtual Event Series 2017
    1
    MAR 16, 2017 | 10:30 AM
    Refinement of epigenetic approaches in neuroscience
    Refinement of epigenetic approaches in neuroscience
    Epigenetics refers to the study of nuclear architecture and gene regulation. Epigenetic mechanisms govern many physiological processes such as cell differentiation, x-inactivation, and genomi...
    Speaker: Richard Lee, PhD
    Presented at: Neuroscience Virtual Event Series 2017
    Sponsored By: Agilent
    2
    MAR 15, 2017 | 1:30 PM
    New generation open source miniaturized microscopes for network dynamic imaging in freely moving mice
    New generation open source miniaturized microscopes for network...
    Miniaturized microscopes in combination with genetically encoded calcium indicators now allow recordings of activity from hundreds of neurons simultaneously in freely moving animals. We are b...
    Speaker: Peyman Golshani, MD, PhD
    Presented at: Neuroscience Virtual Event Series 2017
    2
    MAR 15, 2017 | 6:00 AM
    Prefrontal control of learned fear and avoidance
    Prefrontal control of learned fear and avoidance
    We are nearing three decades of research on the neural circuits of Pavlovian fear conditioning. The advent of new techniques such as genetic and optogenetic manipulations have greatly advance...
    Speaker: Gregory Quirk, PhD
    Presented at: Neuroscience Virtual Event Series 2017
    3
     
     
  • FEB 23, 2017 | 1:30 PM
    Mining Dense, Dynamic Personal Data Clouds to Enhance Health
    Mining Dense, Dynamic Personal Data Clouds to Enhance Health
    Healthcare is becoming more proactive and data-rich than anything before possible – and will increasingly focus on maintaining and enhancing wellness more than just reacting to disease....
    Speaker: Nathan Price, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    4
    FEB 23, 2017 | 12:00 PM
    Recent progress in cellular medicine with an eye to precision medicine
    Recent progress in cellular medicine with an eye to precision...
    Despite vast investment for decades in cancer research and development, cancer is still among the leading causes of death worldwide and its toll is expected to rise by about 70% over the next...
    Speaker: Giacinto Scoles, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    2
    FEB 23, 2017 | 12:00 PM
    Novel Precision medicines that exploit Proximity
    Novel Precision medicines that exploit Proximity
    Cell growth and regulation involve vast networks of interacting DNAs, RNAs, proteins, lipids and sugars. Through a fundamental strategy of life, these interactions push multiple cellular proc...
    Speaker: James Prudent, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    3
    FEB 23, 2017 | 10:30 AM
    Clinical Whole Genome Sequencing In a Healthy Population
    Clinical Whole Genome Sequencing In a Healthy Population
    Clinical whole genome sequencing (cWGS) is rapidly gaining acceptance as cost is decreasing and success rates in identifying disease-causing variants are increasing. While the application of...
    Speaker: Erica Ramos, MS, CGC
    Presented at: Precision Medicine Virtual Event Series 2017
    3
    FEB 23, 2017 | 9:00 AM
    Metabolomics and its Role in Precision Medicine
    Metabolomics and its Role in Precision Medicine
    Although there have been enormous advances in gene sequencing, the results give massive amounts of data that only point to disease risk. Major health factors, including diet, lifestyle, envir...
    Speaker: John Ryals, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    4
     
     
  • FEB 22, 2017 | 1:30 PM
    Integrating genomics platforms and data in Biobanks
    Integrating genomics platforms and data in Biobanks
    Biobanks are a powerful resource in the advancement of precision medicine, and integrating large scale genomics data across Biobank cohorts offer opportunities to further enhance and expedite...
    Speaker: Sami Amr, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    2
    FEB 22, 2017 | 12:00 PM
    From Bits to Bedside: Translating Big Data into Precision Medicine and Digital Health
    From Bits to Bedside: Translating Big Data into Precision Medicine...
    In this talk, I will use examples from my research using big data analytics to define ideals of precision medicine and digital health across a variety of diseases. Specifically, I will i...
    Speaker: Dexter Hadley, MD, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    3
    FEB 22, 2017 | 10:30 AM
    NGS live in your lab in 30 days
    NGS live in your lab in 30 days
    Identification of the many complex genetic aberrations associated with cancers, and deciphering their role in disease progression and response to treatment is one of the major challenges face...
    Speaker: Salim Essakali , Yi Kong, Ph.D.
    Presented at: Precision Medicine Virtual Event Series 2017
    2 2
    FEB 22, 2017 | 10:30 AM
    Beyond the hype: the evidence behind the role of genetics in drug response
    Beyond the hype: the evidence behind the role of genetics in drug...
    Much has been made in the popular press about importance of our "genes" in everything from our weight, intelligence, and our risk of disease.  While there is a scientific basis...
    Speaker: Matt Nelson, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    5
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