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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 22, 2020 | 12:00 AM
      The Cardean Transistor Infrastructure: using cloud-analysis software and "lab on a chip" technology to develop handheld readers for rapid virus detection
      The Cardean Transistor Infrastructure: using cloud-analysis software...
      Graphene-based Biology-gated Transistors (Cardean Transistors) directly read molecular signals of active biology using advanced electronics. This proprietary tech breakthrough can be used as...
      Speaker: Brett Goldsmith, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 22, 2020 | 12:00 AM
      Population Health and Genetic Testing
      Population Health and Genetic Testing
      With the completion of the human genome nearly two decades ago, consumers, patients, and physicians are wondering when genetic testing will go PRIME TIME. While the diagnostic utility of gen...
      Speaker: Matthew Ferber, PhD, FACMG
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 22, 2020 | 12:00 AM
      Genomic Landscapes: Leveraging Genetic Evidence throughout the Pharma Pipeline
      Genomic Landscapes: Leveraging Genetic Evidence throughout the...
      Realizing the promise of Precision Medicine requires both a deep understanding of the landscape of genomic evidence and an understanding of the molecular drivers that influence all aspects o...
      Speaker: Mark Kiel, MD, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 22, 2020 | 12:00 AM
      Priming the Precision Medicine Pipeline: New Models for Applied Genomics Education
      Priming the Precision Medicine Pipeline: New Models for Applied...
      As genomics plays an ever expanding role in healthcare and research, educational programs focused on applied genomics have not kept pace with the demand for trained students. In this talk, w...
      Speaker: Barbara Kraatz Fortini, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 1:30 PM
      Spatially Resolved Molecular Investigation of Triple Negative Breast Cancer
      Spatially Resolved Molecular Investigation of Triple Negative...
      Triple-negative breast cancer (TNBC) is an aggressive disease that accounts for 10-20% of all breast cancer cases diagnosed annually in the U.S.1. Despite its prevalence, TNBC remains resist...
      Speaker: Dina Finan, PhD , Stephen Williams, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 12:00 PM
      Expanding the Hi-C toolbox: New high-resolution approaches for diploid genome phasing, protein-directed chromatin architecture mapping and more
      Expanding the Hi-C toolbox: New high-resolution approaches for...
      Careful and deliberate packaging of the genome is essential to ensuring correct and timely transcriptional programs. Chromatin conformation capture (3C and Hi-C) is a powerful approach for c...
      Speaker: Iain Russell, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      Sponsored By: Dovetail Genomics
      1
      APR 21, 2020 | 12:00 PM
      SNVs to Large Structural Variation: Capturing nucleotide through inter-chromosomal variants through a powerful three-dimensional data type
      SNVs to Large Structural Variation: Capturing nucleotide through...
      Within the clinical arena, the oncology community has led the way in the early adoption of next generation sequencing. NGS is in widespread use in clinical cancer research and is now beginni...
      Speaker: Cory Padilla, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 10:30 AM
      Long HiFi Reads for High-Quality Genome Assemblies
      Long HiFi Reads for High-Quality Genome Assemblies
      The introduction of PacBio HiFi sequence reads, which are both long (up to 25 kb currently) and accurate (>99%) at the individual single-molecule sequence read level, has allowed for adva...
      Speaker: Jonas Korlach, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      Sponsored By: PacBio
      1
      APR 21, 2020 | 10:30 AM
      Optimizing human karyomapping to phase single lgene defects with improved DNA amplification
      Optimizing human karyomapping to phase single lgene defects with...
      Karyomapping, a technique for preimplantation genetic diagnosis (PGD) of single gene disorders, involves using very few or single cells, and comes with challenges due to limited amounts of s...
      Speaker: Samuel Rulli, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      Sponsored By: QIAGEN
      1
      APR 21, 2020 | 7:30 AM
      Novel CRISPR Knock-In Technology for the Robust Analysis of Cells and Tissue
      Novel CRISPR Knock-In Technology for the Robust Analysis of Cells...
      Modern biomedical research is being driven by large scale genetic and proteomic research to identify new targets for the study of disease mechanisms. While these techniques have been incredi...
      Speaker: Scott Soderling, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      Sponsored By: CasTag Biosciences
      1 1
      APR 21, 2020 | 6:00 AM
      Advantages of digital PCR and its applications - the power of partitioning
      Advantages of digital PCR and its applications - the power of...
      The versatility of standard PCR and qPCR is well known. Digital PCR is now taking this to a whole new level. The power of partitioning enables you to explore new frontiers which have been li...
      Speaker: Daniel Löfgren, MSc.
      Presented at: Genetics Week Virtual Event Series 2020
      Sponsored By: QIAGEN
      1
      APR 21, 2020 | 5:30 AM
      PRINCESS: A Framework for Comprehensive Detection and Haplotype Phasing of SNPs and Structural Variants
      PRINCESS: A Framework for Comprehensive Detection and Haplotype...
      Long-read DNA sequencing technologies such as the Pacific Biosciences (PacBio) and Oxford Nanopore (ONT) platforms, have demonstrated enhanced detection of genomic variation, including Singl...
      Speaker: Medhat Mahmoud, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 12:00 AM
      Bionano Genome Imaging: unbiased, genome-wide structural variation detection in genetic disease and cancer, down to 1% allele fraction
      Bionano Genome Imaging: unbiased, genome-wide structural variation...
      Learning Objectives: 1. Learn why the complexity and repetitive structure of the human genome makes it impossible to detect all structural variants using short-read sequencing 2. Learn how h...
      Speaker: Sven Bocklandt, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 12:00 AM
      Single Cell Multi-omics: Solving the Jigsaw
      Single Cell Multi-omics: Solving the Jigsaw
      Since the introduction of single cell sequencing techniques to the genomics community, interest in its use has grown exponentially and the number of single cell publications has exploded. Th...
      Speaker: Ivan Lukić, MD, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 12:00 AM
      Contribution of transposons to structural variation and phenotypic diversity in tomato
      Contribution of transposons to structural variation and phenotypic...
      Structural variation within plant genomes has fueled domestication and selection of traits critical for modern breeding of crop plants. Nevertheless, dissecting the diversity of structural v...
      Speaker: Matthias Benoit, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 21, 2020 | 12:00 AM
      Single cell gene expression: new insights through the lens of full length mRNA isoform resolution
      Single cell gene expression: new insights through the lens of...
      Single cell RNA sequencing (scRNA-seq) emerged to characterize gene expression differences between individual cells, allowing a higher resolution look at mRNA abundance than bulk RNA- seq. H...
      Speaker: Jason Underwood, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 20, 2020 | 8:00 AM
      C.E. CREDITS
      Emergency patient management using coagulation assays
      Emergency patient management using coagulation assays
      Explore emergency hemostasis testing approaches, from rapid lab assays to viscoelastic methods, for managing bleeding patients....
      Speaker: Wayne Chandler, MD
      Presented at: Stago EdVantage Virtual University
      Sponsored By: Diagnostica Stago, Inc.
      17 5
      APR 16, 2020 | 9:00 AM
      Visualize more biomarkers and extract more insights: Moving from single marker IHC to multiplex IF
      Visualize more biomarkers and extract more insights: Moving from...
      DATE: April 16, 2020 TIME: 9:00am PT, 12:00pm ET There is an increasing need to evaluate and understand unique phenotypes and mechanisms of action within the tumor microenvironment. Existing...
      Speaker: Scott Lawrence (M.S., HT(ASCP)) [C] , Katir Patel, PhD
      Sponsored By: Ultivue
      5
      APR 14, 2020 | 9:00 AM
      Gibco Cell Culture Heroes: Work From Home Edition
      Gibco Cell Culture Heroes: Work From Home Edition
      DATE: April 14, 2020 TIME: 9:00am PDT, 12:00pm EDT Besides being Gibco Cell Culture Heroes, what do Vivek, Sandra, Daisy, Ameet and Kristine all have in common? They are all stuck at home fo...
      Speaker: Kristine Wadosky, PhD , Ameet Chimote, PhD , Elizabeth Delery, PhD , Daisy Shu, B.Optom, PhD , Vivek Kamat, PhD , Sandra Hammer, PhD
      Sponsored By: Thermo Fisher Scientific/Gibco
      12 1
      APR 08, 2020 | 7:30 AM
      Keynote Presentation: New Paradigms in moving toward Point-of-Care Cell Therapy Services in the Hospital
      Keynote Presentation: New Paradigms in moving toward Point-of-Care...
      Genetically-modified cell therapies are revolutionizing medicine, offering new opportunities to treat cancer patients and potentially many other diseases. The process of producing gene-modif...
      Speaker: Robert Kruse, MD, PhD
      Presented at: BioProcessing Virtual Event Series 2020
      1
      APR 08, 2020 | 12:00 AM
      Directed Evolution of Next-Generation AAV Vector Systems for Clinical Gene Therapy
      Directed Evolution of Next-Generation AAV Vector Systems for Clinical...
      There has been an increasing number of successful gene therapy clinical trials, leading to regulatory approvals of numerous gene therapy products, in particular ones based on the adeno-assoc...
      Speaker: David Schaffer, PhD
      Presented at: BioProcessing Virtual Event Series 2020
      2
      APR 02, 2020 | 2:30 PM
      Opportunities for using PacBio Long-read Sequencing for COVID-19 Research
      Opportunities for using PacBio Long-read Sequencing for COVID-19...
      Scientists worldwide are actively working to tame the COVID-19 pandemic by developing therapies for patients with severe disease and a vaccine to stem transmission. Accomplishing these two g...
      Speaker: Meredith Ashby, PhD
      Presented at: Coronavirus Series
      Sponsored By: PacBio
      1
      APR 02, 2020 | 10:00 AM
      SARS-CoV-2 (CoVID-19: Emergence, Biology,  and Countermeasures)
      SARS-CoV-2 (CoVID-19: Emergence, Biology, and Countermeasures)
      ...
      Speaker: Mark Denison, MD
      Presented at: Coronavirus Series
      1
      APR 02, 2020 | 6:00 AM
      A Multi-Omic Approach to Detection and Characterization of Viral Pathogens and Their Impact on the Immune System
      A Multi-Omic Approach to Detection and Characterization of Viral...
      A growing body of researchers around the world is working to mount an aggressive and sustained response to the COVID-19 pandemic. By building on past successes and harnessing insights from c...
      Speaker: Bill Hunt, MS , Andrew Quong, PhD
      Presented at: Coronavirus Series
      Sponsored By: Standard BioTools
      2 1
    APR 22, 2020 | 12:00 AM
    The Cardean Transistor Infrastructure: using cloud-analysis software and "lab on a chip" technology to develop handheld readers for rapid virus detection
    The Cardean Transistor Infrastructure: using cloud-analysis software...
    Graphene-based Biology-gated Transistors (Cardean Transistors) directly read molecular signals of active biology using advanced electronics. This proprietary tech breakthrough can be used as...
    Speaker: Brett Goldsmith, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 22, 2020 | 12:00 AM
    Population Health and Genetic Testing
    Population Health and Genetic Testing
    With the completion of the human genome nearly two decades ago, consumers, patients, and physicians are wondering when genetic testing will go PRIME TIME. While the diagnostic utility of gen...
    Speaker: Matthew Ferber, PhD, FACMG
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 22, 2020 | 12:00 AM
    Genomic Landscapes: Leveraging Genetic Evidence throughout the Pharma Pipeline
    Genomic Landscapes: Leveraging Genetic Evidence throughout the...
    Realizing the promise of Precision Medicine requires both a deep understanding of the landscape of genomic evidence and an understanding of the molecular drivers that influence all aspects o...
    Speaker: Mark Kiel, MD, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 22, 2020 | 12:00 AM
    Priming the Precision Medicine Pipeline: New Models for Applied Genomics Education
    Priming the Precision Medicine Pipeline: New Models for Applied...
    As genomics plays an ever expanding role in healthcare and research, educational programs focused on applied genomics have not kept pace with the demand for trained students. In this talk, w...
    Speaker: Barbara Kraatz Fortini, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 21, 2020 | 1:30 PM
    Spatially Resolved Molecular Investigation of Triple Negative Breast Cancer
    Spatially Resolved Molecular Investigation of Triple Negative...
    Triple-negative breast cancer (TNBC) is an aggressive disease that accounts for 10-20% of all breast cancer cases diagnosed annually in the U.S.1. Despite its prevalence, TNBC remains resist...
    Speaker: Dina Finan, PhD , Stephen Williams, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
     
     
  • APR 21, 2020 | 12:00 PM
    Expanding the Hi-C toolbox: New high-resolution approaches for diploid genome phasing, protein-directed chromatin architecture mapping and more
    Expanding the Hi-C toolbox: New high-resolution approaches for...
    Careful and deliberate packaging of the genome is essential to ensuring correct and timely transcriptional programs. Chromatin conformation capture (3C and Hi-C) is a powerful approach for c...
    Speaker: Iain Russell, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    Sponsored By: Dovetail Genomics
    1
    APR 21, 2020 | 12:00 PM
    SNVs to Large Structural Variation: Capturing nucleotide through inter-chromosomal variants through a powerful three-dimensional data type
    SNVs to Large Structural Variation: Capturing nucleotide through...
    Within the clinical arena, the oncology community has led the way in the early adoption of next generation sequencing. NGS is in widespread use in clinical cancer research and is now beginni...
    Speaker: Cory Padilla, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 21, 2020 | 10:30 AM
    Long HiFi Reads for High-Quality Genome Assemblies
    Long HiFi Reads for High-Quality Genome Assemblies
    The introduction of PacBio HiFi sequence reads, which are both long (up to 25 kb currently) and accurate (>99%) at the individual single-molecule sequence read level, has allowed for adva...
    Speaker: Jonas Korlach, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    Sponsored By: PacBio
    1
    APR 21, 2020 | 10:30 AM
    Optimizing human karyomapping to phase single lgene defects with improved DNA amplification
    Optimizing human karyomapping to phase single lgene defects with...
    Karyomapping, a technique for preimplantation genetic diagnosis (PGD) of single gene disorders, involves using very few or single cells, and comes with challenges due to limited amounts of s...
    Speaker: Samuel Rulli, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    Sponsored By: QIAGEN
    1
    APR 21, 2020 | 7:30 AM
    Novel CRISPR Knock-In Technology for the Robust Analysis of Cells and Tissue
    Novel CRISPR Knock-In Technology for the Robust Analysis of Cells...
    Modern biomedical research is being driven by large scale genetic and proteomic research to identify new targets for the study of disease mechanisms. While these techniques have been incredi...
    Speaker: Scott Soderling, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    Sponsored By: CasTag Biosciences
    1 1
     
     
  • APR 21, 2020 | 6:00 AM
    Advantages of digital PCR and its applications - the power of partitioning
    Advantages of digital PCR and its applications - the power of...
    The versatility of standard PCR and qPCR is well known. Digital PCR is now taking this to a whole new level. The power of partitioning enables you to explore new frontiers which have been li...
    Speaker: Daniel Löfgren, MSc.
    Presented at: Genetics Week Virtual Event Series 2020
    Sponsored By: QIAGEN
    1
    APR 21, 2020 | 5:30 AM
    PRINCESS: A Framework for Comprehensive Detection and Haplotype Phasing of SNPs and Structural Variants
    PRINCESS: A Framework for Comprehensive Detection and Haplotype...
    Long-read DNA sequencing technologies such as the Pacific Biosciences (PacBio) and Oxford Nanopore (ONT) platforms, have demonstrated enhanced detection of genomic variation, including Singl...
    Speaker: Medhat Mahmoud, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 21, 2020 | 12:00 AM
    Bionano Genome Imaging: unbiased, genome-wide structural variation detection in genetic disease and cancer, down to 1% allele fraction
    Bionano Genome Imaging: unbiased, genome-wide structural variation...
    Learning Objectives: 1. Learn why the complexity and repetitive structure of the human genome makes it impossible to detect all structural variants using short-read sequencing 2. Learn how h...
    Speaker: Sven Bocklandt, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 21, 2020 | 12:00 AM
    Single Cell Multi-omics: Solving the Jigsaw
    Single Cell Multi-omics: Solving the Jigsaw
    Since the introduction of single cell sequencing techniques to the genomics community, interest in its use has grown exponentially and the number of single cell publications has exploded. Th...
    Speaker: Ivan Lukić, MD, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 21, 2020 | 12:00 AM
    Contribution of transposons to structural variation and phenotypic diversity in tomato
    Contribution of transposons to structural variation and phenotypic...
    Structural variation within plant genomes has fueled domestication and selection of traits critical for modern breeding of crop plants. Nevertheless, dissecting the diversity of structural v...
    Speaker: Matthias Benoit, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
     
     
  • APR 21, 2020 | 12:00 AM
    Single cell gene expression: new insights through the lens of full length mRNA isoform resolution
    Single cell gene expression: new insights through the lens of...
    Single cell RNA sequencing (scRNA-seq) emerged to characterize gene expression differences between individual cells, allowing a higher resolution look at mRNA abundance than bulk RNA- seq. H...
    Speaker: Jason Underwood, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 20, 2020 | 8:00 AM
    C.E. CREDITS
    Emergency patient management using coagulation assays
    Emergency patient management using coagulation assays
    Explore emergency hemostasis testing approaches, from rapid lab assays to viscoelastic methods, for managing bleeding patients....
    Speaker: Wayne Chandler, MD
    Presented at: Stago EdVantage Virtual University
    Sponsored By: Diagnostica Stago, Inc.
    17 5
    APR 16, 2020 | 9:00 AM
    Visualize more biomarkers and extract more insights: Moving from single marker IHC to multiplex IF
    Visualize more biomarkers and extract more insights: Moving from...
    DATE: April 16, 2020 TIME: 9:00am PT, 12:00pm ET There is an increasing need to evaluate and understand unique phenotypes and mechanisms of action within the tumor microenvironment. Existing...
    Speaker: Scott Lawrence (M.S., HT(ASCP)) [C] , Katir Patel, PhD
    Sponsored By: Ultivue
    5
    APR 14, 2020 | 9:00 AM
    Gibco Cell Culture Heroes: Work From Home Edition
    Gibco Cell Culture Heroes: Work From Home Edition
    DATE: April 14, 2020 TIME: 9:00am PDT, 12:00pm EDT Besides being Gibco Cell Culture Heroes, what do Vivek, Sandra, Daisy, Ameet and Kristine all have in common? They are all stuck at home fo...
    Speaker: Kristine Wadosky, PhD , Ameet Chimote, PhD , Elizabeth Delery, PhD , Daisy Shu, B.Optom, PhD , Vivek Kamat, PhD , Sandra Hammer, PhD
    Sponsored By: Thermo Fisher Scientific/Gibco
    12 1
    APR 08, 2020 | 7:30 AM
    Keynote Presentation: New Paradigms in moving toward Point-of-Care Cell Therapy Services in the Hospital
    Keynote Presentation: New Paradigms in moving toward Point-of-Care...
    Genetically-modified cell therapies are revolutionizing medicine, offering new opportunities to treat cancer patients and potentially many other diseases. The process of producing gene-modif...
    Speaker: Robert Kruse, MD, PhD
    Presented at: BioProcessing Virtual Event Series 2020
    1
     
     
  • APR 08, 2020 | 12:00 AM
    Directed Evolution of Next-Generation AAV Vector Systems for Clinical Gene Therapy
    Directed Evolution of Next-Generation AAV Vector Systems for Clinical...
    There has been an increasing number of successful gene therapy clinical trials, leading to regulatory approvals of numerous gene therapy products, in particular ones based on the adeno-assoc...
    Speaker: David Schaffer, PhD
    Presented at: BioProcessing Virtual Event Series 2020
    2
    APR 02, 2020 | 2:30 PM
    Opportunities for using PacBio Long-read Sequencing for COVID-19 Research
    Opportunities for using PacBio Long-read Sequencing for COVID-19...
    Scientists worldwide are actively working to tame the COVID-19 pandemic by developing therapies for patients with severe disease and a vaccine to stem transmission. Accomplishing these two g...
    Speaker: Meredith Ashby, PhD
    Presented at: Coronavirus Series
    Sponsored By: PacBio
    1
    APR 02, 2020 | 10:00 AM
    SARS-CoV-2 (CoVID-19: Emergence, Biology,  and Countermeasures)
    SARS-CoV-2 (CoVID-19: Emergence, Biology, and Countermeasures)
    ...
    Speaker: Mark Denison, MD
    Presented at: Coronavirus Series
    1
    APR 02, 2020 | 6:00 AM
    A Multi-Omic Approach to Detection and Characterization of Viral Pathogens and Their Impact on the Immune System
    A Multi-Omic Approach to Detection and Characterization of Viral...
    A growing body of researchers around the world is working to mount an aggressive and sustained response to the COVID-19 pandemic. By building on past successes and harnessing insights from c...
    Speaker: Bill Hunt, MS , Andrew Quong, PhD
    Presented at: Coronavirus Series
    Sponsored By: Standard BioTools
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