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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 12, 2020 | 9:00 AM
      Analytical Quality Control for the Pharmaceutical Industry
      Analytical Quality Control for the Pharmaceutical Industry
      NEW DATE: Date: May 12, 2020 Time: 9:00am PDT, 12:00pm EDT...
      Speaker: Joy McElroy
      Sponsored By: Sartorius
      29 9
      MAY 08, 2020 | 10:00 AM
      TCR-seq & BCR-seq Solutions: Applications to Clinical Research Projects
      TCR-seq & BCR-seq Solutions: Applications to Clinical Research...
      DATE: May 8, 2020 TIME: 10:00am PT, 11:00am MT, 1:00pm ET The application of next generation sequencing to interrogate immune repertoires and methods in which these highly complex dataset...
      Speaker: Brian O'Connor, PhD
      Sponsored By: Thermo Fisher Scientific - Ion Torrent
      16 10
      MAY 06, 2020 | 7:30 AM
      Keynote Presentation: Complexities of characterizing mineral particle toxicity at the pulmonary interface
      Keynote Presentation: Complexities of characterizing mineral particle...
      The toxicology of particulate matter is complicated by characteristics not normally encountered when addressing poisonings associated with chemical substances. Particle shape, surface reacti...
      Speaker: Christopher Weis, PhD, DABT
      Presented at: Forensic Sciences Virtual Event Series 2020
      1
      MAY 06, 2020 | 12:00 AM
      Deciphering the Necrobiome and Postmortem Microbiomes for Use in Forensics
      Deciphering the Necrobiome and Postmortem Microbiomes for Use...
      The necrobiome is the community of organisms that use or are affected by decomposing organic matter. Decomposing organic matter comes in the form of dead plant matter (biomass) or that of de...
      Speaker: M. Eric Benbow, PhD, AAFS-F
      Presented at: Forensic Sciences Virtual Event Series 2020
      1
      APR 30, 2020 | 9:00 AM
      Tools and methods for CRISPR-Cas9 screening for functional genomics and drug discovery
      Tools and methods for CRISPR-Cas9 screening for functional genomics...
      DATE: April 30, 2020 TIME: 9:00am PT, 12:00pm ET Loss-of-function studies are an established method for uncovering a gene’s role in a biological pathway or disease state. The advent of...
      Speaker: Louise Baskin, M.S. Molecular Biology and Genetics
      Sponsored By: Thermo Fisher Scientific
      23 1
      APR 30, 2020 | 7:00 AM
      Nucleic Acid Purification - Understand the details, tackle the routines!
      Nucleic Acid Purification - Understand the details, tackle the...
      DATE: April 30, 2020 TIME: 7am PT, 10am ET, 4pm CEST Aged more than one century, nucleic acid purification is anything but ordinary. Nucleic Acid Purification, also termed Nucleic Acid Extra...
      Speaker: Andreas von Bohl, PhD , Milan Dieris, PhD , Tim Schommartz, PhD
      Sponsored By: Eppendorf, Macherey-Nagel
      45 13
      APR 29, 2020 | 6:00 AM
      High-Throughput assessment of ChIP-grade capability with Luminex xMAP technology
      High-Throughput assessment of ChIP-grade capability with Luminex...
      Histone post-translational modifications (PTMs) play pivotal roles in chromatin dynamics and function, with alterations in the healthy profile associated with diverse human pathologies. The...
      Speaker: Michael-Christopher Keogh, PhD
      Presented at: xMAP® Connect Virtual Conference (On-Demand)
      1
      APR 29, 2020 | 6:00 AM
      Precision Coupling for Determining Antibody Titers and Screening Antibody Specificity
      Precision Coupling for Determining Antibody Titers and Screening...
      ...
      Speaker: Steve Angeloni
      Presented at: xMAP® Connect Virtual Conference (On-Demand)
      1
      APR 29, 2020 | 6:00 AM
      Development of a bovine/ovine cytokine 15-plex assay for immunoprofiling of the cellular response
      Development of a bovine/ovine cytokine 15-plex assay for immunoprofiling...
      Background and aim: Immune response must be measured in highly controlled conditions for reproducibility. Furthermore, whereas the cellular response plays a major role, only antibody product...
      Speaker: Gilles Foucras, PhD
      Presented at: xMAP® Connect Virtual Conference (On-Demand)
      1
      APR 24, 2020 | 8:00 AM
      Isolating Ultra-high Molecular Weight (UHMW) DNA for Genome-wide Structural Variant Analysis
      Isolating Ultra-high Molecular Weight (UHMW) DNA for Genome-wide...
      DATE: April 24, 2020 TIME: 8:00am PT, 11:00am ET, 5:00pm CET...
      Speaker: Ben Clifford, PhD , Sven Bocklandt, PhD
      Sponsored By: Bionano
      11
      APR 24, 2020 | 8:00 AM
      The International Council for Standardisation in Hematology (ICSH) recommendations for Hemostasis Critical Values, Tests, and Reporting - a stepwise description for the committee's decisions
      The International Council for Standardisation in Hematology (ICSH)...
      The International Council for Standardization in Haematology (ICSH) is a nonprofit organization dedicated to providing open-access guidance documents to enhance the quality of laboratory tes...
      Speaker: Bob Gosselin
      Sponsored By: Diagnostica Stago, Inc.
      10
      APR 23, 2020 | 10:30 AM
      Keynote Presentation: Systematic identification of therapeutic strategies that leverage tumor evolution
      Keynote Presentation: Systematic identification of therapeutic...
      Our laboratory uses tools from pharmacology, genomics, and cell signaling to identify new precision anticancer therapeutic strategies. Under this broad heading, our work involves three key a...
      Speaker: Kris C. Wood, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 23, 2020 | 9:00 AM
      Keynote Presentation: Individualized Health
      Keynote Presentation: Individualized Health
      Learning Objectives: 1. What is wrong with healthcare today 2. What kinds of omics and wearables data can be used to best predict disease risk and manage health...
      Speaker: Michael Snyder, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 23, 2020 | 7:30 AM
      Keynote Presentation: The Massively Parallel Sequencing (MPS) Revolution
      Keynote Presentation: The Massively Parallel Sequencing (MPS)...
      The development of automated DNA sequencers using fluorescent di-deoxy nucleotide sequencing and capillary electrophoresis made it possible to generate the first draft sequences of the human...
      Speaker: David Smith, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 23, 2020 | 6:00 AM
      Latest Applications of PacBio Sequencing for Clinical Research
      Latest Applications of PacBio Sequencing for Clinical Research
      Resolving the genetics of underlying Mendelian diseases as well as host immune responses to infectious diseases is an important prerequisite for understanding their biology and for ultimate...
      Speaker: Jonas Korlach, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      Sponsored By: PacBio
      1
      APR 22, 2020 | 8:00 AM
      C.E. CREDITS
      The NEW Coag Value Playbook...Embrace the Power of Local Testing
      The NEW Coag Value Playbook...Embrace the Power of Local Testing
      Discover strategies for labs to optimize coagulation testing, improve patient outcomes, and strengthen their role in clinical care teams....
      Speaker: Eleanor Herriman, MD, MBA , Oksana Volod, MD
      Presented at: Stago EdVantage Virtual University
      Sponsored By: Diagnostica Stago, Inc.
      7
      APR 22, 2020 | 6:00 AM
      Improved Genome Editing Using Single-Stranded DNA
      Improved Genome Editing Using Single-Stranded DNA
      CRISPR-Cas9 gene editing is a powerful technique that enables genetic modification with greater speed and accuracy than previous approaches. In this webinar, Dr. Chen highlights the advantag...
      Speaker: Ye Chen, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      Sponsored By: GENEWIZ
      1
      APR 22, 2020 | 12:00 AM
      Long-range technologies resolve complex genomic regions overlooked by short-read sequencing
      Long-range technologies resolve complex genomic regions overlooked...
      Complex genomes, including the human genome, contain ‘dark’ regions that standard short-read sequencing technologies do not adequately resolve—overlooking many variants tha...
      Speaker: Mark Ebbert, 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 22, 2020 | 12:00 AM
      Nanotherapeutics: An insight into healthcare and future multi-dimensional clinical applications
      Nanotherapeutics: An insight into healthcare and future multi-dimensional...
      In recent years Nanotherapeutics has revolutionized the healthcare strategies and envisioned to have a tremendous impact to offer better health facilities. It involves design, fabrication, r...
      Speaker: Pratibha Kakadia, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 22, 2020 | 12:00 AM
      Rapid Diagnosis of Complex Rare Disease Cases Using Exome Sequencing
      Rapid Diagnosis of Complex Rare Disease Cases Using Exome Sequencing
      Achieving a diagnosis in rare disease patients can be challenging for even the most experienced clinician or scientist, creating a barrier to delivering truly personalised care. An exome seq...
      Speaker: Louisa Ive, MSc HCPC
      Presented at: Genetics Week Virtual Event Series 2020
      2
      APR 22, 2020 | 12:00 AM
      RNA-seq for the Detection of Gene Fusions in Tumors
      RNA-seq for the Detection of Gene Fusions in Tumors
      In this presentation Dr. Kevin Halling describes the use of RNA-seq testing for identifying clinically significant gene fusions in tumors that can be used to help establish diagnosis and gui...
      Speaker: Kevin Halling, MD, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 22, 2020 | 12:00 AM
      Aggregating and Sharing Clinical Evidence to Improve the Diagnosis of Rare Diseases
      Aggregating and Sharing Clinical Evidence to Improve the Diagnosis...
      The introduction of improved, more cost efficient target capture technologies has accelerated the adoption of Whole Exome Sequencing (WES) in clinical diagnostics. The ability to provide mor...
      Speaker: Ben Liesfeld, PhD
      Presented at: Genetics Week Virtual Event Series 2020
      1
      APR 22, 2020 | 12:00 AM
      Clinical Applications of Estrogen Metabolism Genetic Testing: Improving Estrogen Health, Preventing Breast Cancer and Prescribing Estrogenic Medications with Precision
      Clinical Applications of Estrogen Metabolism Genetic Testing:...
      Estrogen metabolism is the ability to favorably excrete potentially toxic estrogens through urine and sweat. Impaired estrogen metabolism is associated with Endometriosis and Polycystic Ovar...
      Speaker: T.J. Hills
      Presented at: Genetics Week Virtual Event Series 2020
      3 1
    MAY 12, 2020 | 9:00 AM
    Analytical Quality Control for the Pharmaceutical Industry
    Analytical Quality Control for the Pharmaceutical Industry
    NEW DATE: Date: May 12, 2020 Time: 9:00am PDT, 12:00pm EDT...
    Speaker: Joy McElroy
    Sponsored By: Sartorius
    29 9
    MAY 08, 2020 | 10:00 AM
    TCR-seq & BCR-seq Solutions: Applications to Clinical Research Projects
    TCR-seq & BCR-seq Solutions: Applications to Clinical Research...
    DATE: May 8, 2020 TIME: 10:00am PT, 11:00am MT, 1:00pm ET The application of next generation sequencing to interrogate immune repertoires and methods in which these highly complex dataset...
    Speaker: Brian O'Connor, PhD
    Sponsored By: Thermo Fisher Scientific - Ion Torrent
    16 10
    MAY 06, 2020 | 7:30 AM
    Keynote Presentation: Complexities of characterizing mineral particle toxicity at the pulmonary interface
    Keynote Presentation: Complexities of characterizing mineral particle...
    The toxicology of particulate matter is complicated by characteristics not normally encountered when addressing poisonings associated with chemical substances. Particle shape, surface reacti...
    Speaker: Christopher Weis, PhD, DABT
    Presented at: Forensic Sciences Virtual Event Series 2020
    1
    MAY 06, 2020 | 12:00 AM
    Deciphering the Necrobiome and Postmortem Microbiomes for Use in Forensics
    Deciphering the Necrobiome and Postmortem Microbiomes for Use...
    The necrobiome is the community of organisms that use or are affected by decomposing organic matter. Decomposing organic matter comes in the form of dead plant matter (biomass) or that of de...
    Speaker: M. Eric Benbow, PhD, AAFS-F
    Presented at: Forensic Sciences Virtual Event Series 2020
    1
    APR 30, 2020 | 9:00 AM
    Tools and methods for CRISPR-Cas9 screening for functional genomics and drug discovery
    Tools and methods for CRISPR-Cas9 screening for functional genomics...
    DATE: April 30, 2020 TIME: 9:00am PT, 12:00pm ET Loss-of-function studies are an established method for uncovering a gene’s role in a biological pathway or disease state. The advent of...
    Speaker: Louise Baskin, M.S. Molecular Biology and Genetics
    Sponsored By: Thermo Fisher Scientific
    23 1
     
     
  • APR 30, 2020 | 7:00 AM
    Nucleic Acid Purification - Understand the details, tackle the routines!
    Nucleic Acid Purification - Understand the details, tackle the...
    DATE: April 30, 2020 TIME: 7am PT, 10am ET, 4pm CEST Aged more than one century, nucleic acid purification is anything but ordinary. Nucleic Acid Purification, also termed Nucleic Acid Extra...
    Speaker: Andreas von Bohl, PhD , Milan Dieris, PhD , Tim Schommartz, PhD
    Sponsored By: Eppendorf, Macherey-Nagel
    45 13
    APR 29, 2020 | 6:00 AM
    High-Throughput assessment of ChIP-grade capability with Luminex xMAP technology
    High-Throughput assessment of ChIP-grade capability with Luminex...
    Histone post-translational modifications (PTMs) play pivotal roles in chromatin dynamics and function, with alterations in the healthy profile associated with diverse human pathologies. The...
    Speaker: Michael-Christopher Keogh, PhD
    Presented at: xMAP® Connect Virtual Conference (On-Demand)
    1
    APR 29, 2020 | 6:00 AM
    Precision Coupling for Determining Antibody Titers and Screening Antibody Specificity
    Precision Coupling for Determining Antibody Titers and Screening...
    ...
    Speaker: Steve Angeloni
    Presented at: xMAP® Connect Virtual Conference (On-Demand)
    1
    APR 29, 2020 | 6:00 AM
    Development of a bovine/ovine cytokine 15-plex assay for immunoprofiling of the cellular response
    Development of a bovine/ovine cytokine 15-plex assay for immunoprofiling...
    Background and aim: Immune response must be measured in highly controlled conditions for reproducibility. Furthermore, whereas the cellular response plays a major role, only antibody product...
    Speaker: Gilles Foucras, PhD
    Presented at: xMAP® Connect Virtual Conference (On-Demand)
    1
    APR 24, 2020 | 8:00 AM
    Isolating Ultra-high Molecular Weight (UHMW) DNA for Genome-wide Structural Variant Analysis
    Isolating Ultra-high Molecular Weight (UHMW) DNA for Genome-wide...
    DATE: April 24, 2020 TIME: 8:00am PT, 11:00am ET, 5:00pm CET...
    Speaker: Ben Clifford, PhD , Sven Bocklandt, PhD
    Sponsored By: Bionano
    11
     
     
  • APR 24, 2020 | 8:00 AM
    The International Council for Standardisation in Hematology (ICSH) recommendations for Hemostasis Critical Values, Tests, and Reporting - a stepwise description for the committee's decisions
    The International Council for Standardisation in Hematology (ICSH)...
    The International Council for Standardization in Haematology (ICSH) is a nonprofit organization dedicated to providing open-access guidance documents to enhance the quality of laboratory tes...
    Speaker: Bob Gosselin
    Sponsored By: Diagnostica Stago, Inc.
    10
    APR 23, 2020 | 10:30 AM
    Keynote Presentation: Systematic identification of therapeutic strategies that leverage tumor evolution
    Keynote Presentation: Systematic identification of therapeutic...
    Our laboratory uses tools from pharmacology, genomics, and cell signaling to identify new precision anticancer therapeutic strategies. Under this broad heading, our work involves three key a...
    Speaker: Kris C. Wood, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 23, 2020 | 9:00 AM
    Keynote Presentation: Individualized Health
    Keynote Presentation: Individualized Health
    Learning Objectives: 1. What is wrong with healthcare today 2. What kinds of omics and wearables data can be used to best predict disease risk and manage health...
    Speaker: Michael Snyder, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 23, 2020 | 7:30 AM
    Keynote Presentation: The Massively Parallel Sequencing (MPS) Revolution
    Keynote Presentation: The Massively Parallel Sequencing (MPS)...
    The development of automated DNA sequencers using fluorescent di-deoxy nucleotide sequencing and capillary electrophoresis made it possible to generate the first draft sequences of the human...
    Speaker: David Smith, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 23, 2020 | 6:00 AM
    Latest Applications of PacBio Sequencing for Clinical Research
    Latest Applications of PacBio Sequencing for Clinical Research
    Resolving the genetics of underlying Mendelian diseases as well as host immune responses to infectious diseases is an important prerequisite for understanding their biology and for ultimate...
    Speaker: Jonas Korlach, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    Sponsored By: PacBio
    1
     
     
  • APR 22, 2020 | 8:00 AM
    C.E. CREDITS
    The NEW Coag Value Playbook...Embrace the Power of Local Testing
    The NEW Coag Value Playbook...Embrace the Power of Local Testing
    Discover strategies for labs to optimize coagulation testing, improve patient outcomes, and strengthen their role in clinical care teams....
    Speaker: Eleanor Herriman, MD, MBA , Oksana Volod, MD
    Presented at: Stago EdVantage Virtual University
    Sponsored By: Diagnostica Stago, Inc.
    7
    APR 22, 2020 | 6:00 AM
    Improved Genome Editing Using Single-Stranded DNA
    Improved Genome Editing Using Single-Stranded DNA
    CRISPR-Cas9 gene editing is a powerful technique that enables genetic modification with greater speed and accuracy than previous approaches. In this webinar, Dr. Chen highlights the advantag...
    Speaker: Ye Chen, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    Sponsored By: GENEWIZ
    1
    APR 22, 2020 | 12:00 AM
    Long-range technologies resolve complex genomic regions overlooked by short-read sequencing
    Long-range technologies resolve complex genomic regions overlooked...
    Complex genomes, including the human genome, contain ‘dark’ regions that standard short-read sequencing technologies do not adequately resolve—overlooking many variants tha...
    Speaker: Mark Ebbert, 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 22, 2020 | 12:00 AM
    Nanotherapeutics: An insight into healthcare and future multi-dimensional clinical applications
    Nanotherapeutics: An insight into healthcare and future multi-dimensional...
    In recent years Nanotherapeutics has revolutionized the healthcare strategies and envisioned to have a tremendous impact to offer better health facilities. It involves design, fabrication, r...
    Speaker: Pratibha Kakadia, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
     
     
  • APR 22, 2020 | 12:00 AM
    Rapid Diagnosis of Complex Rare Disease Cases Using Exome Sequencing
    Rapid Diagnosis of Complex Rare Disease Cases Using Exome Sequencing
    Achieving a diagnosis in rare disease patients can be challenging for even the most experienced clinician or scientist, creating a barrier to delivering truly personalised care. An exome seq...
    Speaker: Louisa Ive, MSc HCPC
    Presented at: Genetics Week Virtual Event Series 2020
    2
    APR 22, 2020 | 12:00 AM
    RNA-seq for the Detection of Gene Fusions in Tumors
    RNA-seq for the Detection of Gene Fusions in Tumors
    In this presentation Dr. Kevin Halling describes the use of RNA-seq testing for identifying clinically significant gene fusions in tumors that can be used to help establish diagnosis and gui...
    Speaker: Kevin Halling, MD, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 22, 2020 | 12:00 AM
    Aggregating and Sharing Clinical Evidence to Improve the Diagnosis of Rare Diseases
    Aggregating and Sharing Clinical Evidence to Improve the Diagnosis...
    The introduction of improved, more cost efficient target capture technologies has accelerated the adoption of Whole Exome Sequencing (WES) in clinical diagnostics. The ability to provide mor...
    Speaker: Ben Liesfeld, PhD
    Presented at: Genetics Week Virtual Event Series 2020
    1
    APR 22, 2020 | 12:00 AM
    Clinical Applications of Estrogen Metabolism Genetic Testing: Improving Estrogen Health, Preventing Breast Cancer and Prescribing Estrogenic Medications with Precision
    Clinical Applications of Estrogen Metabolism Genetic Testing:...
    Estrogen metabolism is the ability to favorably excrete potentially toxic estrogens through urine and sweat. Impaired estrogen metabolism is associated with Endometriosis and Polycystic Ovar...
    Speaker: T.J. Hills
    Presented at: Genetics Week Virtual Event Series 2020
    3 1
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