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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

    • JUN 18, 2019 | 4:00 PM
      Pluripotent stem cells:  How to raise the quality of your PSC culture
      Pluripotent stem cells: How to raise the quality of your PSC...
      DATE: June 18, 2019TIME: 7:00am PDT, 10:00 EDT, 4:00pm CET PSCs represent an important tool in a wide range of applications, including basic research, disease modeling, drug...
      Speaker: Jessica Wagener, PhD , Nadine Mellies, PhD
      Sponsored By: Eppendorf
      13
      JUN 05, 2019 | 5:00 PM
      Everyday culture practice - Improving reproducibility in cell culture
      Everyday culture practice - Improving reproducibility in cell...
      DATE: June 5, 2019TIME: 8:00am PDT, 11:00am EDT, 5:00pm CEST Eukaryotic cell cultures respond to the most subtle influence. Apart from the risk of contamination, minimal chan...
      Speaker: Jessica Wagener, PhD
      Sponsored By: Eppendorf
      23 2
      MAY 21, 2019 | 7:00 AM
      Genome-wide CRISPR Screens in Primary Human T Cells Reveal Key Regulators of Immune Function
      Genome-wide CRISPR Screens in Primary Human T Cells Reveal Key...
      DATE: May 21, 2019TIMEL 7:00am PT, 10:00am ET Human T cells are central effectors of immunity and cancer immunotherapy. CRISPR-based functional studies in T cells could prioriti...
      Speaker: Eric Shifrut, PhD
      Sponsored By: Thermo Fisher Scientific
      10 1
      MAY 16, 2019 | 4:00 PM
      Towards Standardized Workflows - A focus on microbiome insights
      Towards Standardized Workflows - A focus on microbiome insights
      DATE: May 16, 2019TIME: 7:00am PDT, 10:00am EDT, 4:00pm CEST The emergence of NGS is revolutionizing the microbiological sciences and transforming medicine. Deep sequencing has...
      Speaker: Rita Colwell, PhD , Christiane Honisch, PhD
      Sponsored By: Eppendorf
      10 2
      MAY 09, 2019 | 1:30 PM
      C.E. CREDITS
      The NIH Rare Disease Undiagnosed Diseases Network; Lessons Learnt and Challenges Faced in the First Four Years
      The NIH Rare Disease Undiagnosed Diseases Network; Lessons Learnt...
      In 2014, the Undiagnosed Diseases Network (UDN), which is funded by the NIH, was established as a network of seven clinical sites, two sequencing cores, and a coordinating center. Later, a ce...
      Speaker: Liz Worthey, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      2
      MAY 09, 2019 | 12:00 PM
      A Metagenomic Assay to Interrogate the Role of Virome and Microbiome in Cancer
      A Metagenomic Assay to Interrogate the Role of Virome and Microbiome...
      Screening to identify all known viruses and other pathogenic microorganisms including bacteria, fungus and parasites in human tumor tissues will provide a more comprehensive understanding of...
      Speaker: Erle Robertson, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      Sponsored By: Agilent
      3
      MAY 09, 2019 | 10:30 AM
      Somatic Gene Recombination in the Brain
      Somatic Gene Recombination in the Brain
      Speculations that some form DNA alteration might be utilized by the brain date to the 1960s [1] wherein hypotheses for genomic alterations of germline DNA were proposed for immunoglobulins an...
      Speaker: Jerold Chun, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      2
      MAY 09, 2019 | 9:00 AM
      Polygenic Risk Scores: PheWas and GWAS and Utility of Biobank Information
      Polygenic Risk Scores: PheWas and GWAS and Utility of Biobank...
      The advent of precision medicine largely depends on the creation of precise and accurate predictive tools. While most late-onset diseases are moderately to highly heritable, using genetic inf...
      Speaker: Guillaume Paré, MD, MSc, FRCPC
      Presented at: Genetics and Genomics Virtual Event Series 2019
      Sponsored By: Illumina
      2 1
      MAY 09, 2019 | 9:00 AM
      Completing the Human Genome: The Progress and Challenge of Satellite DNA Assembly
      Completing the Human Genome: The Progress and Challenge of Satellite...
      Release of the first human genome assembly was a landmark achievement, and after nearly two decades of improvements, the current human reference genome (GRCh38) is the most accurate and compl...
      Speaker: Karen Miga, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      1
      MAY 09, 2019 | 7:30 AM
      C.E. CREDITS
      Keynote Presentation: Big Data and Health
      Keynote Presentation: Big Data and Health
      Recent technological advances as well as longitudinal monitoring not only have the potential to improve the treatment of disease (Precision Medicine) but also empower people to stay healthy (...
      Speaker: Michael Snyder, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      2
      MAY 09, 2019 | 6:00 AM
      AI-Driven Literature Curation for Determining Genomic Variant Pathogenicity
      AI-Driven Literature Curation for Determining Genomic Variant...
      Variant interpretation presents a bottleneck for many labs, posing a challenge to the broader adoption of precision medicine. The ACMG/AMP variant classification framework has provided a foun...
      Speaker: Mark Kiel, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      4
      MAY 08, 2019 | 10:30 AM
      C.E. CREDITS
      Using Networks to Understand Cancer Risk
      Using Networks to Understand Cancer Risk
      One of the central tenants of biology is that our genetics—our genotype—influences the physical characteristics we manifest—our phenotype. But with more than 25,000 human ge...
      Speaker: John Quackenbush, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      2
      MAY 08, 2019 | 7:30 AM
      C.E. CREDITS
      Keynote Presentation: Interpreting the Zero $ Genome via Base Editing, Organoids & in Situ Omics
      Keynote Presentation: Interpreting the Zero $ Genome via Base...
      To interpret genome sequence from telomere to telomere, it is helpful end-to-end haplotypes with single-molecule epigenetics overlays, via in situ omics at sub-cellular (20 nm) resolution an...
      Speaker: George Church, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      2
      MAY 08, 2019 | 6:00 AM
      C.E. CREDITS
      Novel DNA Methylation in Mammals
      Novel DNA Methylation in Mammals
      Genetic drivers of cancer can be dysregulated through epigenetic modifications of DNA. Although the critical role of DNA 5-methylcytosine (5mC) in the regulation of transcription is recognize...
      Speaker: Tao Wu, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      2
      MAY 08, 2019 | 6:00 AM
      Upgrading the CRISPR Toolbox - New Strategies Sharpen the CRISPR-Cas9 Scissors Utilizing Visualization and Chromatic Accessibility
      Upgrading the CRISPR Toolbox - New Strategies Sharpen the CRISPR-Cas9...
      In this webinar, we will discuss our most recent additions to our CRISPR protein portfolio, the GFP-SpCas9 and GFP-eCas9 fusion proteins. The two GFP-Cas9 fusion proteins offer great visualiz...
      Speaker: Michelle Ding, M.S. , Yanfang Jiang, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2019
      Sponsored By: MilliporeSigma
      1
      APR 25, 2019 | 1:30 PM
      In Vivo Models for Infectious Disease Research Through the Years
      In Vivo Models for Infectious Disease Research Through the Years
      Over the past 25 years many advances in techniques have been incorporated into infectious disease research. From genetically modified animals to advances in basic techniques that improve res...
      Speaker: Matthew Flegal, BS, SRS
      Presented at: Infectious Disease Virtual Event Series 2019
      4 1
      APR 25, 2019 | 12:00 PM
      Diagnosis and Treatment of Tuberculosis, a Case Study in Challenges and Threats Posed by Infectious Diseases
      Diagnosis and Treatment of Tuberculosis, a Case Study in Challenges...
      Tuberculosis has killed more than one billion people in the last 200 years. It is the oldest and the deadliest human pathogen, recently surpassing HIV. Its adaptation to host and drug pressur...
      Speaker: Faramarz Valafar, PhD
      Presented at: Infectious Disease Virtual Event Series 2019
      2
      APR 25, 2019 | 10:30 AM
      Overcoming Complexity to Elucidate the Role of Immunoglobulin Polymorphism in the Functional Antibody Response
      Overcoming Complexity to Elucidate the Role of Immunoglobulin...
      Recent evidence indicates that the immunoglobulin (IG) gene loci reside within the most complex and variable regions of the human genome, characterized by elevated levels of single nucleotide...
      Speaker: Corey Watson, PhD
      Presented at: Infectious Disease Virtual Event Series 2019
      1
      APR 25, 2019 | 6:00 AM
      Long-Read Sequencing and Infectious Disease: New Insights Into Longstanding Challenges
      Long-Read Sequencing and Infectious Disease: New Insights Into...
      To reduce the global burden diseases causes by infectious disease, including parasites and bacteria, scientists need better information about mechanisms of virulence, immune evasion, and drug...
      Speaker: Meredith Ashby, PhD
      Presented at: Infectious Disease Virtual Event Series 2019
      Sponsored By: PacBio
      2
      APR 23, 2019 | 9:00 AM
      Liquid Based Microbiology: Simplify Sample Collection and Transport to Improve Patient Care
      Liquid Based Microbiology: Simplify Sample Collection and Transport...
      DATE: April 23, 2019TIME: 9:00am PDT, 12:00pm EDT ABSTRACT: Learning Objectives: List benefits of liquid based collection and transport systems...
      Speaker: Susan Sharp, Ph.D., DABMM, FAAM
      Sponsored By: COPAN Diagnostics
      20
      APR 10, 2019 | 1:30 PM
      Laboratory Medicine Beyond The Box: Value Based Health Care & Diagnostic Evidence
      Laboratory Medicine Beyond The Box: Value Based Health Care &...
      Integration of technology is influencing practice in the clinical laboratory and treatment of patients in the clinical practice arena. As laboratories begin to move from a volume to value mod...
      Speaker: Elizabeth Marlowe, PhD, D(ABMM) , Joanna Sickler, MPH, MBA
      Presented at: Molecular Diagnostics Virtual Event Series 2019
      4
      APR 10, 2019 | 1:30 PM
      Detection and Interpretation of Complex Myeloid Leukemia Mutations
      Detection and Interpretation of Complex Myeloid Leukemia Mutations
      Myeloid leukemias encompass a group of different diseases that include myeloproliferative neoplasms (MPN), myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). These diseases are d...
      Speaker: Véronique Laloux, PhD , Beate Litzenburger, Ph.D.
      Presented at: Molecular Diagnostics Virtual Event Series 2019
      Sponsored By: QIAGEN
      6
      APR 10, 2019 | 1:30 PM
      Tools & Processes for Making Evidence-Based Policy Decisions
      Tools & Processes for Making Evidence-Based Policy Decisions
      The exponential advents of advances in techniques and types of molecular diagnostic testing, and modifying strategies for these tests, are encouraging; but these evolutions simultaneously con...
      Speaker: Eugean Jiwanmall, MPH, MBA
      Presented at: Molecular Diagnostics Virtual Event Series 2019
      3
      APR 10, 2019 | 12:00 PM
      Digital Biosensors and the Internet of Biology
      Digital Biosensors and the Internet of Biology
      The prevailing philosophy in biological testing has been to focus on simple tests with easy to interpret information such as ELISA or lateral flow assays. At the same time, there has been a d...
      Speaker: Brett Goldsmith, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2019
      4
    JUN 18, 2019 | 4:00 PM
    Pluripotent stem cells:  How to raise the quality of your PSC culture
    Pluripotent stem cells: How to raise the quality of your PSC...
    DATE: June 18, 2019TIME: 7:00am PDT, 10:00 EDT, 4:00pm CET PSCs represent an important tool in a wide range of applications, including basic research, disease modeling, drug...
    Speaker: Jessica Wagener, PhD , Nadine Mellies, PhD
    Sponsored By: Eppendorf
    13
    JUN 05, 2019 | 5:00 PM
    Everyday culture practice - Improving reproducibility in cell culture
    Everyday culture practice - Improving reproducibility in cell...
    DATE: June 5, 2019TIME: 8:00am PDT, 11:00am EDT, 5:00pm CEST Eukaryotic cell cultures respond to the most subtle influence. Apart from the risk of contamination, minimal chan...
    Speaker: Jessica Wagener, PhD
    Sponsored By: Eppendorf
    23 2
    MAY 21, 2019 | 7:00 AM
    Genome-wide CRISPR Screens in Primary Human T Cells Reveal Key Regulators of Immune Function
    Genome-wide CRISPR Screens in Primary Human T Cells Reveal Key...
    DATE: May 21, 2019TIMEL 7:00am PT, 10:00am ET Human T cells are central effectors of immunity and cancer immunotherapy. CRISPR-based functional studies in T cells could prioriti...
    Speaker: Eric Shifrut, PhD
    Sponsored By: Thermo Fisher Scientific
    10 1
    MAY 16, 2019 | 4:00 PM
    Towards Standardized Workflows - A focus on microbiome insights
    Towards Standardized Workflows - A focus on microbiome insights
    DATE: May 16, 2019TIME: 7:00am PDT, 10:00am EDT, 4:00pm CEST The emergence of NGS is revolutionizing the microbiological sciences and transforming medicine. Deep sequencing has...
    Speaker: Rita Colwell, PhD , Christiane Honisch, PhD
    Sponsored By: Eppendorf
    10 2
    MAY 09, 2019 | 1:30 PM
    C.E. CREDITS
    The NIH Rare Disease Undiagnosed Diseases Network; Lessons Learnt and Challenges Faced in the First Four Years
    The NIH Rare Disease Undiagnosed Diseases Network; Lessons Learnt...
    In 2014, the Undiagnosed Diseases Network (UDN), which is funded by the NIH, was established as a network of seven clinical sites, two sequencing cores, and a coordinating center. Later, a ce...
    Speaker: Liz Worthey, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    2
     
     
  • MAY 09, 2019 | 12:00 PM
    A Metagenomic Assay to Interrogate the Role of Virome and Microbiome in Cancer
    A Metagenomic Assay to Interrogate the Role of Virome and Microbiome...
    Screening to identify all known viruses and other pathogenic microorganisms including bacteria, fungus and parasites in human tumor tissues will provide a more comprehensive understanding of...
    Speaker: Erle Robertson, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    Sponsored By: Agilent
    3
    MAY 09, 2019 | 10:30 AM
    Somatic Gene Recombination in the Brain
    Somatic Gene Recombination in the Brain
    Speculations that some form DNA alteration might be utilized by the brain date to the 1960s [1] wherein hypotheses for genomic alterations of germline DNA were proposed for immunoglobulins an...
    Speaker: Jerold Chun, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    2
    MAY 09, 2019 | 9:00 AM
    Polygenic Risk Scores: PheWas and GWAS and Utility of Biobank Information
    Polygenic Risk Scores: PheWas and GWAS and Utility of Biobank...
    The advent of precision medicine largely depends on the creation of precise and accurate predictive tools. While most late-onset diseases are moderately to highly heritable, using genetic inf...
    Speaker: Guillaume Paré, MD, MSc, FRCPC
    Presented at: Genetics and Genomics Virtual Event Series 2019
    Sponsored By: Illumina
    2 1
    MAY 09, 2019 | 9:00 AM
    Completing the Human Genome: The Progress and Challenge of Satellite DNA Assembly
    Completing the Human Genome: The Progress and Challenge of Satellite...
    Release of the first human genome assembly was a landmark achievement, and after nearly two decades of improvements, the current human reference genome (GRCh38) is the most accurate and compl...
    Speaker: Karen Miga, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    1
    MAY 09, 2019 | 7:30 AM
    C.E. CREDITS
    Keynote Presentation: Big Data and Health
    Keynote Presentation: Big Data and Health
    Recent technological advances as well as longitudinal monitoring not only have the potential to improve the treatment of disease (Precision Medicine) but also empower people to stay healthy (...
    Speaker: Michael Snyder, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    2
     
     
  • MAY 09, 2019 | 6:00 AM
    AI-Driven Literature Curation for Determining Genomic Variant Pathogenicity
    AI-Driven Literature Curation for Determining Genomic Variant...
    Variant interpretation presents a bottleneck for many labs, posing a challenge to the broader adoption of precision medicine. The ACMG/AMP variant classification framework has provided a foun...
    Speaker: Mark Kiel, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    4
    MAY 08, 2019 | 10:30 AM
    C.E. CREDITS
    Using Networks to Understand Cancer Risk
    Using Networks to Understand Cancer Risk
    One of the central tenants of biology is that our genetics—our genotype—influences the physical characteristics we manifest—our phenotype. But with more than 25,000 human ge...
    Speaker: John Quackenbush, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    2
    MAY 08, 2019 | 7:30 AM
    C.E. CREDITS
    Keynote Presentation: Interpreting the Zero $ Genome via Base Editing, Organoids & in Situ Omics
    Keynote Presentation: Interpreting the Zero $ Genome via Base...
    To interpret genome sequence from telomere to telomere, it is helpful end-to-end haplotypes with single-molecule epigenetics overlays, via in situ omics at sub-cellular (20 nm) resolution an...
    Speaker: George Church, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    2
    MAY 08, 2019 | 6:00 AM
    C.E. CREDITS
    Novel DNA Methylation in Mammals
    Novel DNA Methylation in Mammals
    Genetic drivers of cancer can be dysregulated through epigenetic modifications of DNA. Although the critical role of DNA 5-methylcytosine (5mC) in the regulation of transcription is recognize...
    Speaker: Tao Wu, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    2
    MAY 08, 2019 | 6:00 AM
    Upgrading the CRISPR Toolbox - New Strategies Sharpen the CRISPR-Cas9 Scissors Utilizing Visualization and Chromatic Accessibility
    Upgrading the CRISPR Toolbox - New Strategies Sharpen the CRISPR-Cas9...
    In this webinar, we will discuss our most recent additions to our CRISPR protein portfolio, the GFP-SpCas9 and GFP-eCas9 fusion proteins. The two GFP-Cas9 fusion proteins offer great visualiz...
    Speaker: Michelle Ding, M.S. , Yanfang Jiang, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2019
    Sponsored By: MilliporeSigma
    1
     
     
  • APR 25, 2019 | 1:30 PM
    In Vivo Models for Infectious Disease Research Through the Years
    In Vivo Models for Infectious Disease Research Through the Years
    Over the past 25 years many advances in techniques have been incorporated into infectious disease research. From genetically modified animals to advances in basic techniques that improve res...
    Speaker: Matthew Flegal, BS, SRS
    Presented at: Infectious Disease Virtual Event Series 2019
    4 1
    APR 25, 2019 | 12:00 PM
    Diagnosis and Treatment of Tuberculosis, a Case Study in Challenges and Threats Posed by Infectious Diseases
    Diagnosis and Treatment of Tuberculosis, a Case Study in Challenges...
    Tuberculosis has killed more than one billion people in the last 200 years. It is the oldest and the deadliest human pathogen, recently surpassing HIV. Its adaptation to host and drug pressur...
    Speaker: Faramarz Valafar, PhD
    Presented at: Infectious Disease Virtual Event Series 2019
    2
    APR 25, 2019 | 10:30 AM
    Overcoming Complexity to Elucidate the Role of Immunoglobulin Polymorphism in the Functional Antibody Response
    Overcoming Complexity to Elucidate the Role of Immunoglobulin...
    Recent evidence indicates that the immunoglobulin (IG) gene loci reside within the most complex and variable regions of the human genome, characterized by elevated levels of single nucleotide...
    Speaker: Corey Watson, PhD
    Presented at: Infectious Disease Virtual Event Series 2019
    1
    APR 25, 2019 | 6:00 AM
    Long-Read Sequencing and Infectious Disease: New Insights Into Longstanding Challenges
    Long-Read Sequencing and Infectious Disease: New Insights Into...
    To reduce the global burden diseases causes by infectious disease, including parasites and bacteria, scientists need better information about mechanisms of virulence, immune evasion, and drug...
    Speaker: Meredith Ashby, PhD
    Presented at: Infectious Disease Virtual Event Series 2019
    Sponsored By: PacBio
    2
    APR 23, 2019 | 9:00 AM
    Liquid Based Microbiology: Simplify Sample Collection and Transport to Improve Patient Care
    Liquid Based Microbiology: Simplify Sample Collection and Transport...
    DATE: April 23, 2019TIME: 9:00am PDT, 12:00pm EDT ABSTRACT: Learning Objectives: List benefits of liquid based collection and transport systems...
    Speaker: Susan Sharp, Ph.D., DABMM, FAAM
    Sponsored By: COPAN Diagnostics
    20
     
     
  • APR 10, 2019 | 1:30 PM
    Laboratory Medicine Beyond The Box: Value Based Health Care & Diagnostic Evidence
    Laboratory Medicine Beyond The Box: Value Based Health Care &...
    Integration of technology is influencing practice in the clinical laboratory and treatment of patients in the clinical practice arena. As laboratories begin to move from a volume to value mod...
    Speaker: Elizabeth Marlowe, PhD, D(ABMM) , Joanna Sickler, MPH, MBA
    Presented at: Molecular Diagnostics Virtual Event Series 2019
    4
    APR 10, 2019 | 1:30 PM
    Detection and Interpretation of Complex Myeloid Leukemia Mutations
    Detection and Interpretation of Complex Myeloid Leukemia Mutations
    Myeloid leukemias encompass a group of different diseases that include myeloproliferative neoplasms (MPN), myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). These diseases are d...
    Speaker: Véronique Laloux, PhD , Beate Litzenburger, Ph.D.
    Presented at: Molecular Diagnostics Virtual Event Series 2019
    Sponsored By: QIAGEN
    6
    APR 10, 2019 | 1:30 PM
    Tools & Processes for Making Evidence-Based Policy Decisions
    Tools & Processes for Making Evidence-Based Policy Decisions
    The exponential advents of advances in techniques and types of molecular diagnostic testing, and modifying strategies for these tests, are encouraging; but these evolutions simultaneously con...
    Speaker: Eugean Jiwanmall, MPH, MBA
    Presented at: Molecular Diagnostics Virtual Event Series 2019
    3
    APR 10, 2019 | 12:00 PM
    Digital Biosensors and the Internet of Biology
    Digital Biosensors and the Internet of Biology
    The prevailing philosophy in biological testing has been to focus on simple tests with easy to interpret information such as ELISA or lateral flow assays. At the same time, there has been a d...
    Speaker: Brett Goldsmith, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2019
    4
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