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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 02, 2021 | 10:00 AM
      Recent advances for simultaneous analysis to determine embryo PGT-A and PGT-M status with NGS
      Recent advances for simultaneous analysis to determine embryo...
      Date: June 2, 2021 Time: 10:00am PDT Preimplantation genetic testing (PGT) is typically performed on a limited number of cells from an embryo biopsy and is used to prioritize embryos for tra...
      Speaker: Cengiz Cinnioglu, PhD
      Sponsored By: Thermo Fisher Scientific
      13
      JUN 02, 2021 | 12:00 AM
      Development of FGFR4 targeted Chimeric Antigen Receptors (CARs) for treatment of Rhabdomyosarcoma
      Development of FGFR4 targeted Chimeric Antigen Receptors (CARs)...
      Rhabdomyosarcoma (RMS) is a soft tissue cancer commonly arising in muscle and is the most common soft tissue cancer in children. Patients with metastatic RMS have a poor prognosis that has n...
      Speaker: Peter Sullivan, PhD
      Presented at: Immuno-Oncology Virtual Event Series 2021
      1
      JUN 02, 2021 | 12:00 AM
      Engineering universal chimeric antigen receptors (CARs) for cancer therapy
      Engineering universal chimeric antigen receptors (CARs) for cancer...
      Learning Objectives: 1. Define “universal CARs” and describe their mechanism of action. 2. Explain current challenges in CAR T cell therapy. 3. Describe potential benefits and ch...
      Speaker: Jason Lohmueller, Ph.D.
      Presented at: Immuno-Oncology Virtual Event Series 2021
      2
      JUN 02, 2021 | 12:00 AM
      EZH2 as an Actionable Therapeutic Target to Enhance Anti-Tumor Immune Response In Prostate Cancer
      EZH2 as an Actionable Therapeutic Target to Enhance Anti-Tumor...
      Prostate cancers are considered immunologically ‘cold’ tumors given the very few patients who respond to checkpoint inhibitor therapy (CPI). Recently, enrichment of interferon st...
      Speaker: Leigh Ellis, Ph.D.
      Presented at: Immuno-Oncology Virtual Event Series 2021
      1
      JUN 02, 2021 | 12:00 AM
      Using genetically engineered preclinical models to study T cell therapy against solid tumors
      Using genetically engineered preclinical models to study T cell...
      Immune checkpoint therapy (ICT) is a front-line treatment for lung cancer; however, low mutational burden and ‘non-T cell inflamed’ signatures predict poor responses to ICT in ~5...
      Speaker: Leah Schmidt, PhD
      Presented at: Immuno-Oncology Virtual Event Series 2021
      3
      MAY 27, 2021 | 9:00 AM
      Immunological profiling using multiple model systems to understand SARS-CoV-2 infection
      Immunological profiling using multiple model systems to understand...
      Date: May 27, 2021 Time: 9:00am PDT Since the current SARS-CoV-2 outbreak, there has been an urgent need to define the immune response and understand the relevant immunological mechanisms un...
      Speaker: Dr. Claudio Fenizia , Premnath Rajakannu
      Sponsored By: Thermo Fisher Scientific
      19
      MAY 19, 2021 | 12:00 AM
      From single-cell analysis towards a digital microfluidic point-of-care platform: a capillary journey
      From single-cell analysis towards a digital microfluidic point-of-care...
      For the past years, my laboratory has been working on microfluidic devices to enable the analysis of single cells. Our technology of choice has been droplet microfluidics that encapsulates s...
      Speaker: Eric Brouzes, PhD
      Presented at: Laboratory Automation Virtual Event Series 2021
      1
      MAY 18, 2021 | 8:00 AM
      Avoiding hurdles in molecular assay development
      Avoiding hurdles in molecular assay development
      Date: May 18, 2021 Time: 8:00am (PST) The global pandemic has caused an increased focus and scrutiny on molecular diagnostic assay development, resulting in a need for assays that provide qu...
      Speaker: Naeem Nathoo
      Sponsored By: Thermo Fisher Scientific
      7 2
      MAY 11, 2021 | 11:00 AM
      Teach 1 Reach 1: Academia's Roll Call
      Teach 1 Reach 1: Academia's Roll Call
      ...
      Speaker: Arthur P. Arnold, PhD , Ana Mari Cauce, PhD , Leslie Meltzer Henry, JD, PhD, MSc , Londa Schiebinger, PhD , Kim Templeton MD, FAAOS, FAOA
      Presented at: 5th Annual Vivian Pinn Symposium
      0
      MAY 05, 2021 | 8:00 AM
      The Impact of SARS-CoV-2 Genomic Surveillance Locally, Nationally, and Globally
      The Impact of SARS-CoV-2 Genomic Surveillance Locally, Nationally,...
      Date: May 5, 2021 Time: 8:00am PDT, 11:00am EDT Emergence of genetic mutations within the SARS-CoV-2 genome that may enhance transmissibility, increase symptom severity or improve the virus...
      Speaker: Dr. Jared Aulcair
      Sponsored By: Thermo Fisher Scientific
      17
      APR 29, 2021 | 1:35 PM
      Validation of combined DNA and RNA sequencing in Myeloid neoplasms
      Validation of combined DNA and RNA sequencing in Myeloid neoplasms
      Myeloid neoplasms represent a highly heterogeneous group of diseases that encompass myeloproliferative, myelodysplastic (myeloproliferative/myelodysplastic) syndrome and acute myeloid leukem...
      Speaker: Neeraj Arora, MD, PDF
      Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
      4 1
      APR 28, 2021 | 7:00 AM
      Host genome analysis of structural variations by Optical Genome Mapping in patients with severe COVID-19
      Host genome analysis of structural variations by Optical Genome...
      Date: April 28, 2021 Time: 7:00am (PDT), 10:00am (EDT) The varied clinical manifestations and outcomes in patients with SARS-CoV-2 infections implicate a role of host-genetics in the predisp...
      Speaker: Ravindra Kolhe, MD, PhD
      Sponsored By: Bionano
      9 2
      APR 22, 2021 | 6:00 AM
      Panel Presentation: Powering the precision in "precision medicine" - The role of curated data, databases and knowledge: Does a gold standard exist?
      Panel Presentation: Powering the precision in "precision medicine"...
      As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
      Speaker: Dominic John , Simon Forbes, PhD , Shawn Bauer , Lisa Barrow-Laing
      Presented at: Genetics Week Virtual Event Series 2021
      Sponsored By: QIAGEN
      2
      APR 21, 2021 | 10:30 AM
      Panel Presentation: Driving lab efficiency with PCR power
      Panel Presentation: Driving lab efficiency with PCR power
      Detection and/or amplification of target DNA sequences by polymerase chain reaction (PCR) is a prevalent method in molecular biology. PCR has a broad range of applications, including use in...
      Speaker: Kyle Hondorp , Marija NavickaitÄ—
      Presented at: Genetics Week Virtual Event Series 2021
      Sponsored By: Thermo Fisher Scientific
      3
      APR 21, 2021 | 7:30 AM
      Panel Presentation: Next-Generation Sequencing in the Global Response to the COVID-19 Pandemic
      Panel Presentation: Next-Generation Sequencing in the Global Response...
      The SARS-CoV-2 pandemic is challenging our health care systems and has profoundly impacted our society. Due to the poor global public health response, SARS-CoV-2 has developed many variants....
      Speaker: Eric Allen, MBA, M. Eng. Bioengineering , Michael Oberholzer, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      2
      APR 21, 2021 | 12:00 AM
      Hybrid Capture SARS-CoV-2 NGS Assay and COVID-Dx: a robust end to end solution for viral detection and surveillance of genetic variants
      Hybrid Capture SARS-CoV-2 NGS Assay and COVID-Dx: a robust end...
      As the SARS-CoV-2 continues to spread and evolve and vaccination efforts are under way, countries around the world are confronting new public health challenges due to the emergence and rapid...
      Speaker: Mara Couto-Rodriguez
      Presented at: Genetics Week Virtual Event Series 2021
      1
      APR 21, 2021 | 12:00 AM
      Flex Analysis: A Safe, Integrated and Flexible Approach to Non-Invasive Aneuploidy Analysis
      Flex Analysis: A Safe, Integrated and Flexible Approach to Non-Invasive...
      NGS Bioinformatics software has come of age. Our workflows need software solutions that don’t only carry out the correct calculations to give the correct results reliably and unambiguo...
      Speaker: Matthew C. Forman, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      1
      APR 21, 2021 | 12:00 AM
      High Throughput Testing for SARS-CoV-2 and SNP Analysis for Variants of Concern
      High Throughput Testing for SARS-CoV-2 and SNP Analysis for Variants...
      As part of Healthy Davis Together, we have implemented rapid, inexpensive, high throughput testing for SARS-Cov-2 using technology repurposed from the agricultural biotechnology sector. This...
      Speaker: Richard Michelmore
      Presented at: Genetics Week Virtual Event Series 2021
      1
      APR 21, 2021 | 12:00 AM
      Past, Present and Future of Engineered Cell Therapy
      Past, Present and Future of Engineered Cell Therapy
      Engineered cell therapy is an emerging field of science to target and treat cancer. Current strategies include utilizing immune cells such as T cells, NK cells and Macrophages or other cells...
      Speaker: Janani Krishnamurthy, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      2
      APR 20, 2021 | 4:30 PM
      C.E. CREDITS
      High-throughput clinical and environmental viral extraction and sequencing
      High-throughput clinical and environmental viral extraction and...
      COVID-19 is a severe disease that has caused >1 million deaths in under one year. As this disease is novel, the molecular and cellular underpinnings of the progressive tissue injury are p...
      Speaker: Christopher Mason, Ph.D
      Presented at: Genetics Week Virtual Event Series 2021
      Sponsored By: Tecan
      2
      APR 20, 2021 | 4:30 PM
      Advancing AAV: Novel Synthesis and Sequencing Solutions for Gene Therapy Research
      Advancing AAV: Novel Synthesis and Sequencing Solutions for Gene...
      Interest in cell and gene therapy-based disease prevention and treatment has increased rapidly over the last few decades, however there are still many hurdles to overcome and further progres...
      Speaker: Andrea O'Hara, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      Sponsored By: GENEWIZ
      3
      APR 20, 2021 | 7:30 AM
      C.E. CREDITS
      Keynote Presentation: A structural variation map of 499 Han Chinese individuals using long-read sequencing data
      Keynote Presentation: A structural variation map of 499 Han Chinese...
      Structural variants (SVs) are essential in human evolution and genetic disease but remain understudied. This is especially the case for non-Caucasian ethnicities. We report, for the first ti...
      Speaker: Fritz Sedlazeck, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      1
      APR 20, 2021 | 12:00 AM
      Epigenetic Aging Studies in Mammals
      Epigenetic Aging Studies in Mammals
      In mammals, DNA methylation is an epigenetic mark that regulates gene expression by serving as a maintainable mark whose absence marks promoters and enhancers. Recent epidemiological studies...
      Speaker: Steve Horvath
      Presented at: Genetics Week Virtual Event Series 2021
      6
      APR 20, 2021 | 12:00 AM
      The Structure, Function, and Evolution of Human Chromosome 8
      The Structure, Function, and Evolution of Human Chromosome 8
      The complete assembly of each human chromosome is essential for understanding human biology and evolution. Using complementary long-read sequencing technologies, we complete the first linear...
      Speaker: Glennis Logsdon, PhD
      Presented at: Genetics Week Virtual Event Series 2021
      2
    JUN 02, 2021 | 10:00 AM
    Recent advances for simultaneous analysis to determine embryo PGT-A and PGT-M status with NGS
    Recent advances for simultaneous analysis to determine embryo...
    Date: June 2, 2021 Time: 10:00am PDT Preimplantation genetic testing (PGT) is typically performed on a limited number of cells from an embryo biopsy and is used to prioritize embryos for tra...
    Speaker: Cengiz Cinnioglu, PhD
    Sponsored By: Thermo Fisher Scientific
    13
    JUN 02, 2021 | 12:00 AM
    Development of FGFR4 targeted Chimeric Antigen Receptors (CARs) for treatment of Rhabdomyosarcoma
    Development of FGFR4 targeted Chimeric Antigen Receptors (CARs)...
    Rhabdomyosarcoma (RMS) is a soft tissue cancer commonly arising in muscle and is the most common soft tissue cancer in children. Patients with metastatic RMS have a poor prognosis that has n...
    Speaker: Peter Sullivan, PhD
    Presented at: Immuno-Oncology Virtual Event Series 2021
    1
    JUN 02, 2021 | 12:00 AM
    Engineering universal chimeric antigen receptors (CARs) for cancer therapy
    Engineering universal chimeric antigen receptors (CARs) for cancer...
    Learning Objectives: 1. Define “universal CARs” and describe their mechanism of action. 2. Explain current challenges in CAR T cell therapy. 3. Describe potential benefits and ch...
    Speaker: Jason Lohmueller, Ph.D.
    Presented at: Immuno-Oncology Virtual Event Series 2021
    2
    JUN 02, 2021 | 12:00 AM
    EZH2 as an Actionable Therapeutic Target to Enhance Anti-Tumor Immune Response In Prostate Cancer
    EZH2 as an Actionable Therapeutic Target to Enhance Anti-Tumor...
    Prostate cancers are considered immunologically ‘cold’ tumors given the very few patients who respond to checkpoint inhibitor therapy (CPI). Recently, enrichment of interferon st...
    Speaker: Leigh Ellis, Ph.D.
    Presented at: Immuno-Oncology Virtual Event Series 2021
    1
    JUN 02, 2021 | 12:00 AM
    Using genetically engineered preclinical models to study T cell therapy against solid tumors
    Using genetically engineered preclinical models to study T cell...
    Immune checkpoint therapy (ICT) is a front-line treatment for lung cancer; however, low mutational burden and ‘non-T cell inflamed’ signatures predict poor responses to ICT in ~5...
    Speaker: Leah Schmidt, PhD
    Presented at: Immuno-Oncology Virtual Event Series 2021
    3
     
     
  • MAY 27, 2021 | 9:00 AM
    Immunological profiling using multiple model systems to understand SARS-CoV-2 infection
    Immunological profiling using multiple model systems to understand...
    Date: May 27, 2021 Time: 9:00am PDT Since the current SARS-CoV-2 outbreak, there has been an urgent need to define the immune response and understand the relevant immunological mechanisms un...
    Speaker: Dr. Claudio Fenizia , Premnath Rajakannu
    Sponsored By: Thermo Fisher Scientific
    19
    MAY 19, 2021 | 12:00 AM
    From single-cell analysis towards a digital microfluidic point-of-care platform: a capillary journey
    From single-cell analysis towards a digital microfluidic point-of-care...
    For the past years, my laboratory has been working on microfluidic devices to enable the analysis of single cells. Our technology of choice has been droplet microfluidics that encapsulates s...
    Speaker: Eric Brouzes, PhD
    Presented at: Laboratory Automation Virtual Event Series 2021
    1
    MAY 18, 2021 | 8:00 AM
    Avoiding hurdles in molecular assay development
    Avoiding hurdles in molecular assay development
    Date: May 18, 2021 Time: 8:00am (PST) The global pandemic has caused an increased focus and scrutiny on molecular diagnostic assay development, resulting in a need for assays that provide qu...
    Speaker: Naeem Nathoo
    Sponsored By: Thermo Fisher Scientific
    7 2
    MAY 11, 2021 | 11:00 AM
    Teach 1 Reach 1: Academia's Roll Call
    Teach 1 Reach 1: Academia's Roll Call
    ...
    Speaker: Arthur P. Arnold, PhD , Ana Mari Cauce, PhD , Leslie Meltzer Henry, JD, PhD, MSc , Londa Schiebinger, PhD , Kim Templeton MD, FAAOS, FAOA
    Presented at: 5th Annual Vivian Pinn Symposium
    0
    MAY 05, 2021 | 8:00 AM
    The Impact of SARS-CoV-2 Genomic Surveillance Locally, Nationally, and Globally
    The Impact of SARS-CoV-2 Genomic Surveillance Locally, Nationally,...
    Date: May 5, 2021 Time: 8:00am PDT, 11:00am EDT Emergence of genetic mutations within the SARS-CoV-2 genome that may enhance transmissibility, increase symptom severity or improve the virus...
    Speaker: Dr. Jared Aulcair
    Sponsored By: Thermo Fisher Scientific
    17
     
     
  • APR 29, 2021 | 1:35 PM
    Validation of combined DNA and RNA sequencing in Myeloid neoplasms
    Validation of combined DNA and RNA sequencing in Myeloid neoplasms
    Myeloid neoplasms represent a highly heterogeneous group of diseases that encompass myeloproliferative, myelodysplastic (myeloproliferative/myelodysplastic) syndrome and acute myeloid leukem...
    Speaker: Neeraj Arora, MD, PDF
    Presented at: OncomineWorld 2022: A Virtual NGS Education Meeting
    4 1
    APR 28, 2021 | 7:00 AM
    Host genome analysis of structural variations by Optical Genome Mapping in patients with severe COVID-19
    Host genome analysis of structural variations by Optical Genome...
    Date: April 28, 2021 Time: 7:00am (PDT), 10:00am (EDT) The varied clinical manifestations and outcomes in patients with SARS-CoV-2 infections implicate a role of host-genetics in the predisp...
    Speaker: Ravindra Kolhe, MD, PhD
    Sponsored By: Bionano
    9 2
    APR 22, 2021 | 6:00 AM
    Panel Presentation: Powering the precision in "precision medicine" - The role of curated data, databases and knowledge: Does a gold standard exist?
    Panel Presentation: Powering the precision in "precision medicine"...
    As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
    Speaker: Dominic John , Simon Forbes, PhD , Shawn Bauer , Lisa Barrow-Laing
    Presented at: Genetics Week Virtual Event Series 2021
    Sponsored By: QIAGEN
    2
    APR 21, 2021 | 10:30 AM
    Panel Presentation: Driving lab efficiency with PCR power
    Panel Presentation: Driving lab efficiency with PCR power
    Detection and/or amplification of target DNA sequences by polymerase chain reaction (PCR) is a prevalent method in molecular biology. PCR has a broad range of applications, including use in...
    Speaker: Kyle Hondorp , Marija NavickaitÄ—
    Presented at: Genetics Week Virtual Event Series 2021
    Sponsored By: Thermo Fisher Scientific
    3
    APR 21, 2021 | 7:30 AM
    Panel Presentation: Next-Generation Sequencing in the Global Response to the COVID-19 Pandemic
    Panel Presentation: Next-Generation Sequencing in the Global Response...
    The SARS-CoV-2 pandemic is challenging our health care systems and has profoundly impacted our society. Due to the poor global public health response, SARS-CoV-2 has developed many variants....
    Speaker: Eric Allen, MBA, M. Eng. Bioengineering , Michael Oberholzer, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    2
     
     
  • APR 21, 2021 | 12:00 AM
    Hybrid Capture SARS-CoV-2 NGS Assay and COVID-Dx: a robust end to end solution for viral detection and surveillance of genetic variants
    Hybrid Capture SARS-CoV-2 NGS Assay and COVID-Dx: a robust end...
    As the SARS-CoV-2 continues to spread and evolve and vaccination efforts are under way, countries around the world are confronting new public health challenges due to the emergence and rapid...
    Speaker: Mara Couto-Rodriguez
    Presented at: Genetics Week Virtual Event Series 2021
    1
    APR 21, 2021 | 12:00 AM
    Flex Analysis: A Safe, Integrated and Flexible Approach to Non-Invasive Aneuploidy Analysis
    Flex Analysis: A Safe, Integrated and Flexible Approach to Non-Invasive...
    NGS Bioinformatics software has come of age. Our workflows need software solutions that don’t only carry out the correct calculations to give the correct results reliably and unambiguo...
    Speaker: Matthew C. Forman, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    1
    APR 21, 2021 | 12:00 AM
    High Throughput Testing for SARS-CoV-2 and SNP Analysis for Variants of Concern
    High Throughput Testing for SARS-CoV-2 and SNP Analysis for Variants...
    As part of Healthy Davis Together, we have implemented rapid, inexpensive, high throughput testing for SARS-Cov-2 using technology repurposed from the agricultural biotechnology sector. This...
    Speaker: Richard Michelmore
    Presented at: Genetics Week Virtual Event Series 2021
    1
    APR 21, 2021 | 12:00 AM
    Past, Present and Future of Engineered Cell Therapy
    Past, Present and Future of Engineered Cell Therapy
    Engineered cell therapy is an emerging field of science to target and treat cancer. Current strategies include utilizing immune cells such as T cells, NK cells and Macrophages or other cells...
    Speaker: Janani Krishnamurthy, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    2
    APR 20, 2021 | 4:30 PM
    C.E. CREDITS
    High-throughput clinical and environmental viral extraction and sequencing
    High-throughput clinical and environmental viral extraction and...
    COVID-19 is a severe disease that has caused >1 million deaths in under one year. As this disease is novel, the molecular and cellular underpinnings of the progressive tissue injury are p...
    Speaker: Christopher Mason, Ph.D
    Presented at: Genetics Week Virtual Event Series 2021
    Sponsored By: Tecan
    2
     
     
  • APR 20, 2021 | 4:30 PM
    Advancing AAV: Novel Synthesis and Sequencing Solutions for Gene Therapy Research
    Advancing AAV: Novel Synthesis and Sequencing Solutions for Gene...
    Interest in cell and gene therapy-based disease prevention and treatment has increased rapidly over the last few decades, however there are still many hurdles to overcome and further progres...
    Speaker: Andrea O'Hara, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    Sponsored By: GENEWIZ
    3
    APR 20, 2021 | 7:30 AM
    C.E. CREDITS
    Keynote Presentation: A structural variation map of 499 Han Chinese individuals using long-read sequencing data
    Keynote Presentation: A structural variation map of 499 Han Chinese...
    Structural variants (SVs) are essential in human evolution and genetic disease but remain understudied. This is especially the case for non-Caucasian ethnicities. We report, for the first ti...
    Speaker: Fritz Sedlazeck, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    1
    APR 20, 2021 | 12:00 AM
    Epigenetic Aging Studies in Mammals
    Epigenetic Aging Studies in Mammals
    In mammals, DNA methylation is an epigenetic mark that regulates gene expression by serving as a maintainable mark whose absence marks promoters and enhancers. Recent epidemiological studies...
    Speaker: Steve Horvath
    Presented at: Genetics Week Virtual Event Series 2021
    6
    APR 20, 2021 | 12:00 AM
    The Structure, Function, and Evolution of Human Chromosome 8
    The Structure, Function, and Evolution of Human Chromosome 8
    The complete assembly of each human chromosome is essential for understanding human biology and evolution. Using complementary long-read sequencing technologies, we complete the first linear...
    Speaker: Glennis Logsdon, PhD
    Presented at: Genetics Week Virtual Event Series 2021
    2
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