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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

    • SEP 12, 2019 | 6:00 AM
      Using the NASA GeneLab Data System to Study the Metagenomes of Spaceships and Their Occupants
      Using the NASA GeneLab Data System to Study the Metagenomes of...
      With humans pushing to live further off Earth for longer periods of time, it is increasingly important to understand the changes that occur in biological systems during spaceflight whether th...
      Speaker: Jonathan Galazka, PhD , Daniela Bezdan, PhD , Peng Jiang, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2019
      1
      SEP 11, 2019 | 1:30 PM
      Development of Machine Learning Algorithms to Data Mine Meta-Omic Characterizations of Complex Microbiota
      Development of Machine Learning Algorithms to Data Mine Meta-Omic...
      Background: The vast majority of all genes are contained within the genomes of the prokaryotes, including the eubacteria and the archaea. These largely single-cellular domains of life thus...
      Speaker: Garth Ehrlich, PhD, FAAAS
      Presented at: Microbiology & Immunology Virtual Event Series 2019
      Sponsored By: PacBio
      4
      SEP 11, 2019 | 12:00 PM
      Understanding Astrovirus Pathogenesis: Who Knew Viruses Had Toxins?
      Understanding Astrovirus Pathogenesis: Who Knew Viruses Had Toxins?
      immunocompromised populations where the virus can cause systemic and even fatal infections. Indeed, we have shown that astrovirus infections are more prevalent than norovirus in our pediatric...
      Speaker: Stacey Schultz-Cherry, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2019
      5
      SEP 11, 2019 | 9:00 AM
      Microbial Detection Total Solution Based on MGISEQ High-Throughput Sequencing Platform - Accelerating the Application of Metagenomics in the Screening and Prevention of Infectious Disease
      Microbial Detection Total Solution Based on MGISEQ High-Throughput...
      Traditional pathogen detection methods rely on the identification of pathogens known to be associated with a particular syndrome. In many cases, it involves complex methodology, lengthy proce...
      Speaker: Kin Kuok, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2019
      2
      SEP 11, 2019 | 7:30 AM
      Keynote Presentation: Mining Athlete Microbiomes for Next Generation Probiotics
      Keynote Presentation: Mining Athlete Microbiomes for Next Generation...
      Jonathan is a co-founder and the CEO of FitBiomics, a biotechnology startup that is sequencing the microbiome of elite athletes to identify and isolate next-generation probiotics for applicat...
      Speaker: Jonathan Scheiman, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2019
      1
      SEP 11, 2019 | 6:00 AM
      Powerful Species-Level Identification and Quantification by Weighted Analysis of All, Rather Than One, 16S Hypervariable Regions
      Powerful Species-Level Identification and Quantification by Weighted...
      MVRSION is a bench and informatic system which employs simultaneous weighted analysis eight of nine 16S hyper variable regions. We use Fluidigm Juno to amplify and index the these regions in...
      Speaker: Seth Crosby, MD
      Presented at: Microbiology & Immunology Virtual Event Series 2019
      1
      SEP 10, 2019 | 9:00 AM
      Not Your Typical Flow Cytometry Panel Design Webinar: A tool kit for selecting antibodies with the complete panel in mind
      Not Your Typical Flow Cytometry Panel Design Webinar: A tool kit...
      DATE: September 10, 2019TIME: 9:00am PDTAfter new users become familiar with flow cytometry instrumentation and learn how to set up the instrument and acquire data, the next topic to ma...
      Speaker: Maria Gentile, MSc , Michael Kapinsky, PhD
      Sponsored By: Beckman Coulter Life Sciences
      14
      SEP 05, 2019 | 7:00 AM
      The bread and butter method of genomics: How to improve your (q)PCR
      The bread and butter method of genomics: How to improve your (q)PCR
      DATE: September 5, 2019TIME: 7:00am PT, 10:00am ET, 4:00pm CEST PCR (Polymerase Chain Reaction) has gone through a massive evolution since its development in 1983. Besides it...
      Speaker: Tim Schommartz, PhD
      Sponsored By: Eppendorf
      17 1
      AUG 29, 2019 | 9:00 AM
      Enabling Next-Generation Targeted siRNA Therapies with ExpiCHO
      Enabling Next-Generation Targeted siRNA Therapies with ExpiCHO
      DATE: August 29, 2019TIME: 9:00am PT/ 12:00pm ET Monoclonal antibodies (mAbs) are a cornerstone of modern biomedical research and biotherapeutics. Therefore, reproducibly obtai...
      Speaker: Ian Huggins, PhD
      Sponsored By: Thermo Fisher Scientific/Gibco
      6
      AUG 27, 2019 | 9:00 AM
      Akoya Biosciences Webinar Series:  Comprehensive Meta-analysis of Biomarker Technologies for Predictive Response of PD-1/PD-L1 Checkpoint Therapies
      Akoya Biosciences Webinar Series: Comprehensive Meta-analysis...
      DATE: August 27, 2019 TIME: 9:00am PDT, 12:00pm EDT Immunotherapies targeting PD-1 or PD-L1 have proven remarkably effective for treating cancer in some patients, with considerabl...
      Speaker: Cliff Hoyt, PhD , Steve Lu
      Sponsored By: Akoya Biosciences
      5
      AUG 22, 2019 | 7:30 AM
      Keynote Presentation: Health Impacts of Environmental Chemical Exposures
      Keynote Presentation: Health Impacts of Environmental Chemical...
      The incidence of conditions such as diabetes, obesity, asthma, and cancer have increased substantially in the past 30 years. The human genome has not changed in that period of time, so the en...
      Speaker: Linda Birnbaum, PhD
      Presented at: Forensics & Toxicology 2019
      5
      AUG 14, 2019 | 8:00 AM
      The Metagenomics of Dozens of Earth's Cities and One Space Station
      The Metagenomics of Dozens of Earth's Cities and One Space Station
      DATE: August 14, 2019TIME: 8:00am PDT Infectious disease surveillance and monitoring is critical in settings where disease outbreaks and antibiotic resistance can dramatically im...
      Speaker: Dr. Christopher Mason
      Sponsored By: Zymo Research
      2
      JUN 20, 2019 | 1:30 PM
      Single Cell CNV End-to-End Workflow to Dissect Tumor Heterogeneity
      Single Cell CNV End-to-End Workflow to Dissect Tumor Heterogeneity
      Tumor heterogeneity is a hallmark of cancer and can have significant impact on identifying drivers, including those that may be therapeutically relevant. Although, the traditional sequencing...
      Speaker: Lee Gibbs, PhD
      Presented at: Precision Medicine Virtual Event Series 2019
      1
      JUN 20, 2019 | 1:30 PM
      Introducing the therascreen FGFR RGQ RT-PCR Kit and Day-One Readiness at Insight Molecular Labs
      Introducing the therascreen FGFR RGQ RT-PCR Kit and Day-One Readiness...
      The practice of precision medicine utilizes advanced diagnostic tools to identify specific groups of patients on the basis of particular molecular characteristics, and guide their treatment w...
      Speaker: David Hout, PhD , Benjamin Chaffey, PhD
      Presented at: Precision Medicine Virtual Event Series 2019
      Sponsored By: QIAGEN
      1
      JUN 20, 2019 | 12:00 PM
      NGS Target Enrichment Solutions to Drive Discovery in Precision Medicine Research
      NGS Target Enrichment Solutions to Drive Discovery in Precision...
      The long term goal of our collaborative effort is to bring precision medicine to the practice of veterinary oncology, using the wealth of genomic data gathered in human cancers as a roadmap....
      Speaker: Duane Hassane, PhD , Guannan Wang, PhD
      Presented at: Precision Medicine Virtual Event Series 2019
      Sponsored By: Twist Bioscience
      2
      JUN 20, 2019 | 10:30 AM
      Outlier Kinases as Targets for Precision Therapy
      Outlier Kinases as Targets for Precision Therapy
      In this presentation, Dr. Kothari will provide an overview of the Precision Medicine Initiative from NIH and how NGS technologies have helped the researchers to look deep inside the human tra...
      Speaker: Vishal Kothari, PhD
      Presented at: Precision Medicine Virtual Event Series 2019
      1
      JUN 20, 2019 | 9:00 AM
      Precision Medicine & Health in Action: Practicing an N-of-1 Approach in the Clinic
      Precision Medicine & Health in Action: Practicing an N-of-1 Approach...
      The NIH put Precision Medicine on the map as a revolutionary way to manage disease, delivering the right treatment, to the right patient, at the right time. But what does Precision Medicine r...
      Speaker: Florence Comite, MD
      Presented at: Precision Medicine Virtual Event Series 2019
      1
      JUN 20, 2019 | 9:00 AM
      Keynote Presentation: Transforming Drug Discovery with Precision Medicine
      Keynote Presentation: Transforming Drug Discovery with Precision...
      Recent advances in genomic technologies have revealed enormous complexities and uniqueness of human physiology. Although enormous efforts are being made to apply this knowledge to enhance the...
      Speaker: Khyati Shah, PhD
      Presented at: Precision Medicine Virtual Event Series 2019
      1
      JUN 20, 2019 | 8:00 AM
      Use of Echo Acoustic Liquid Handling in Functional Genomic Screening of Retinal Ganglion Cells
      Use of Echo Acoustic Liquid Handling in Functional Genomic Screening...
      DATE: June 20, 2019TIME: 8:00am PDTRetinal ganglion cells (RGCs) are projection neurons that process and transmit visual information from the retina to the brain. In a group of disea...
      Speaker: Derek Welsbie, M.D., Ph.D. , Iain Russell, PhD
      Sponsored By: Labcyte
      4
      JUN 20, 2019 | 6:00 AM
      See Further: Expanded Carrier Screening Tools That Take You From Sample to Insight
      See Further: Expanded Carrier Screening Tools That Take You From...
      Inherited disorders affect millions of people globally. These diseases significantly impact lives of patients and their families, and in addition, also results in substantial socio-economic i...
      Speaker: Raed Samara, PhD , Rupert Yip, PhD
      Presented at: Precision Medicine Virtual Event Series 2019
      Sponsored By: QIAGEN
      1
      JUN 20, 2019 | 6:00 AM
      Connecting Genetic and Transcriptional Variation in Acute Myeloid Leukemia at Single-Cell Resolution
      Connecting Genetic and Transcriptional Variation in Acute Myeloid...
      Virtually all tumors are genetically heterogeneous, containing subclonal populations of cells that are defined by distinct mutations. Subclones can have unique phenotypes that influence disea...
      Speaker: Stephen Williams, PhD
      Presented at: Precision Medicine Virtual Event Series 2019
      2
      JUN 20, 2019 | 6:00 AM
      Precise DNA Sequencing: A Necessity for Precision Medicine
      Precise DNA Sequencing: A Necessity for Precision Medicine
      It has been noted by many in the community that for Precision Medicine to become a transformative reality, the underlying DNA and RNA sequence data have to become more precise. In my talk, I...
      Speaker: Jonas Korlach, PhD
      Presented at: Precision Medicine Virtual Event Series 2019
      1
      JUN 19, 2019 | 11:00 AM
      Selecting the right tools to build your pluripotent stem cell based disease models
      Selecting the right tools to build your pluripotent stem cell...
      DATE: June 19, 2019TIME: 11:00am PDT, 2:00pm EDT Abstract:...
      Speaker: Erik Willems, PhD
      Sponsored By: Thermo Fisher Scientific/Gibco
      3
      JUN 19, 2019 | 10:00 AM
      Getting started in 3D:  Ask an Expert
      Getting started in 3D: Ask an Expert
      DATE: June 19, 2019TIME: 10:00am PDT, 1:00pm EDT As we develop new methods to create more biologically relevant models for research in understanding disease etiology and in...
      Speaker: Mark Kennedy, Ph.D. , Richard Josephson, PhD
      Sponsored By: Thermo Fisher Scientific
      6
    SEP 12, 2019 | 6:00 AM
    Using the NASA GeneLab Data System to Study the Metagenomes of Spaceships and Their Occupants
    Using the NASA GeneLab Data System to Study the Metagenomes of...
    With humans pushing to live further off Earth for longer periods of time, it is increasingly important to understand the changes that occur in biological systems during spaceflight whether th...
    Speaker: Jonathan Galazka, PhD , Daniela Bezdan, PhD , Peng Jiang, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2019
    1
    SEP 11, 2019 | 1:30 PM
    Development of Machine Learning Algorithms to Data Mine Meta-Omic Characterizations of Complex Microbiota
    Development of Machine Learning Algorithms to Data Mine Meta-Omic...
    Background: The vast majority of all genes are contained within the genomes of the prokaryotes, including the eubacteria and the archaea. These largely single-cellular domains of life thus...
    Speaker: Garth Ehrlich, PhD, FAAAS
    Presented at: Microbiology & Immunology Virtual Event Series 2019
    Sponsored By: PacBio
    4
    SEP 11, 2019 | 12:00 PM
    Understanding Astrovirus Pathogenesis: Who Knew Viruses Had Toxins?
    Understanding Astrovirus Pathogenesis: Who Knew Viruses Had Toxins?
    immunocompromised populations where the virus can cause systemic and even fatal infections. Indeed, we have shown that astrovirus infections are more prevalent than norovirus in our pediatric...
    Speaker: Stacey Schultz-Cherry, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2019
    5
    SEP 11, 2019 | 9:00 AM
    Microbial Detection Total Solution Based on MGISEQ High-Throughput Sequencing Platform - Accelerating the Application of Metagenomics in the Screening and Prevention of Infectious Disease
    Microbial Detection Total Solution Based on MGISEQ High-Throughput...
    Traditional pathogen detection methods rely on the identification of pathogens known to be associated with a particular syndrome. In many cases, it involves complex methodology, lengthy proce...
    Speaker: Kin Kuok, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2019
    2
    SEP 11, 2019 | 7:30 AM
    Keynote Presentation: Mining Athlete Microbiomes for Next Generation Probiotics
    Keynote Presentation: Mining Athlete Microbiomes for Next Generation...
    Jonathan is a co-founder and the CEO of FitBiomics, a biotechnology startup that is sequencing the microbiome of elite athletes to identify and isolate next-generation probiotics for applicat...
    Speaker: Jonathan Scheiman, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2019
    1
     
     
  • SEP 11, 2019 | 6:00 AM
    Powerful Species-Level Identification and Quantification by Weighted Analysis of All, Rather Than One, 16S Hypervariable Regions
    Powerful Species-Level Identification and Quantification by Weighted...
    MVRSION is a bench and informatic system which employs simultaneous weighted analysis eight of nine 16S hyper variable regions. We use Fluidigm Juno to amplify and index the these regions in...
    Speaker: Seth Crosby, MD
    Presented at: Microbiology & Immunology Virtual Event Series 2019
    1
    SEP 10, 2019 | 9:00 AM
    Not Your Typical Flow Cytometry Panel Design Webinar: A tool kit for selecting antibodies with the complete panel in mind
    Not Your Typical Flow Cytometry Panel Design Webinar: A tool kit...
    DATE: September 10, 2019TIME: 9:00am PDTAfter new users become familiar with flow cytometry instrumentation and learn how to set up the instrument and acquire data, the next topic to ma...
    Speaker: Maria Gentile, MSc , Michael Kapinsky, PhD
    Sponsored By: Beckman Coulter Life Sciences
    14
    SEP 05, 2019 | 7:00 AM
    The bread and butter method of genomics: How to improve your (q)PCR
    The bread and butter method of genomics: How to improve your (q)PCR
    DATE: September 5, 2019TIME: 7:00am PT, 10:00am ET, 4:00pm CEST PCR (Polymerase Chain Reaction) has gone through a massive evolution since its development in 1983. Besides it...
    Speaker: Tim Schommartz, PhD
    Sponsored By: Eppendorf
    17 1
    AUG 29, 2019 | 9:00 AM
    Enabling Next-Generation Targeted siRNA Therapies with ExpiCHO
    Enabling Next-Generation Targeted siRNA Therapies with ExpiCHO
    DATE: August 29, 2019TIME: 9:00am PT/ 12:00pm ET Monoclonal antibodies (mAbs) are a cornerstone of modern biomedical research and biotherapeutics. Therefore, reproducibly obtai...
    Speaker: Ian Huggins, PhD
    Sponsored By: Thermo Fisher Scientific/Gibco
    6
    AUG 27, 2019 | 9:00 AM
    Akoya Biosciences Webinar Series:  Comprehensive Meta-analysis of Biomarker Technologies for Predictive Response of PD-1/PD-L1 Checkpoint Therapies
    Akoya Biosciences Webinar Series: Comprehensive Meta-analysis...
    DATE: August 27, 2019 TIME: 9:00am PDT, 12:00pm EDT Immunotherapies targeting PD-1 or PD-L1 have proven remarkably effective for treating cancer in some patients, with considerabl...
    Speaker: Cliff Hoyt, PhD , Steve Lu
    Sponsored By: Akoya Biosciences
    5
     
     
  • AUG 22, 2019 | 7:30 AM
    Keynote Presentation: Health Impacts of Environmental Chemical Exposures
    Keynote Presentation: Health Impacts of Environmental Chemical...
    The incidence of conditions such as diabetes, obesity, asthma, and cancer have increased substantially in the past 30 years. The human genome has not changed in that period of time, so the en...
    Speaker: Linda Birnbaum, PhD
    Presented at: Forensics & Toxicology 2019
    5
    AUG 14, 2019 | 8:00 AM
    The Metagenomics of Dozens of Earth's Cities and One Space Station
    The Metagenomics of Dozens of Earth's Cities and One Space Station
    DATE: August 14, 2019TIME: 8:00am PDT Infectious disease surveillance and monitoring is critical in settings where disease outbreaks and antibiotic resistance can dramatically im...
    Speaker: Dr. Christopher Mason
    Sponsored By: Zymo Research
    2
    JUN 20, 2019 | 1:30 PM
    Single Cell CNV End-to-End Workflow to Dissect Tumor Heterogeneity
    Single Cell CNV End-to-End Workflow to Dissect Tumor Heterogeneity
    Tumor heterogeneity is a hallmark of cancer and can have significant impact on identifying drivers, including those that may be therapeutically relevant. Although, the traditional sequencing...
    Speaker: Lee Gibbs, PhD
    Presented at: Precision Medicine Virtual Event Series 2019
    1
    JUN 20, 2019 | 1:30 PM
    Introducing the therascreen FGFR RGQ RT-PCR Kit and Day-One Readiness at Insight Molecular Labs
    Introducing the therascreen FGFR RGQ RT-PCR Kit and Day-One Readiness...
    The practice of precision medicine utilizes advanced diagnostic tools to identify specific groups of patients on the basis of particular molecular characteristics, and guide their treatment w...
    Speaker: David Hout, PhD , Benjamin Chaffey, PhD
    Presented at: Precision Medicine Virtual Event Series 2019
    Sponsored By: QIAGEN
    1
    JUN 20, 2019 | 12:00 PM
    NGS Target Enrichment Solutions to Drive Discovery in Precision Medicine Research
    NGS Target Enrichment Solutions to Drive Discovery in Precision...
    The long term goal of our collaborative effort is to bring precision medicine to the practice of veterinary oncology, using the wealth of genomic data gathered in human cancers as a roadmap....
    Speaker: Duane Hassane, PhD , Guannan Wang, PhD
    Presented at: Precision Medicine Virtual Event Series 2019
    Sponsored By: Twist Bioscience
    2
     
     
  • JUN 20, 2019 | 10:30 AM
    Outlier Kinases as Targets for Precision Therapy
    Outlier Kinases as Targets for Precision Therapy
    In this presentation, Dr. Kothari will provide an overview of the Precision Medicine Initiative from NIH and how NGS technologies have helped the researchers to look deep inside the human tra...
    Speaker: Vishal Kothari, PhD
    Presented at: Precision Medicine Virtual Event Series 2019
    1
    JUN 20, 2019 | 9:00 AM
    Precision Medicine & Health in Action: Practicing an N-of-1 Approach in the Clinic
    Precision Medicine & Health in Action: Practicing an N-of-1 Approach...
    The NIH put Precision Medicine on the map as a revolutionary way to manage disease, delivering the right treatment, to the right patient, at the right time. But what does Precision Medicine r...
    Speaker: Florence Comite, MD
    Presented at: Precision Medicine Virtual Event Series 2019
    1
    JUN 20, 2019 | 9:00 AM
    Keynote Presentation: Transforming Drug Discovery with Precision Medicine
    Keynote Presentation: Transforming Drug Discovery with Precision...
    Recent advances in genomic technologies have revealed enormous complexities and uniqueness of human physiology. Although enormous efforts are being made to apply this knowledge to enhance the...
    Speaker: Khyati Shah, PhD
    Presented at: Precision Medicine Virtual Event Series 2019
    1
    JUN 20, 2019 | 8:00 AM
    Use of Echo Acoustic Liquid Handling in Functional Genomic Screening of Retinal Ganglion Cells
    Use of Echo Acoustic Liquid Handling in Functional Genomic Screening...
    DATE: June 20, 2019TIME: 8:00am PDTRetinal ganglion cells (RGCs) are projection neurons that process and transmit visual information from the retina to the brain. In a group of disea...
    Speaker: Derek Welsbie, M.D., Ph.D. , Iain Russell, PhD
    Sponsored By: Labcyte
    4
    JUN 20, 2019 | 6:00 AM
    See Further: Expanded Carrier Screening Tools That Take You From Sample to Insight
    See Further: Expanded Carrier Screening Tools That Take You From...
    Inherited disorders affect millions of people globally. These diseases significantly impact lives of patients and their families, and in addition, also results in substantial socio-economic i...
    Speaker: Raed Samara, PhD , Rupert Yip, PhD
    Presented at: Precision Medicine Virtual Event Series 2019
    Sponsored By: QIAGEN
    1
     
     
  • JUN 20, 2019 | 6:00 AM
    Connecting Genetic and Transcriptional Variation in Acute Myeloid Leukemia at Single-Cell Resolution
    Connecting Genetic and Transcriptional Variation in Acute Myeloid...
    Virtually all tumors are genetically heterogeneous, containing subclonal populations of cells that are defined by distinct mutations. Subclones can have unique phenotypes that influence disea...
    Speaker: Stephen Williams, PhD
    Presented at: Precision Medicine Virtual Event Series 2019
    2
    JUN 20, 2019 | 6:00 AM
    Precise DNA Sequencing: A Necessity for Precision Medicine
    Precise DNA Sequencing: A Necessity for Precision Medicine
    It has been noted by many in the community that for Precision Medicine to become a transformative reality, the underlying DNA and RNA sequence data have to become more precise. In my talk, I...
    Speaker: Jonas Korlach, PhD
    Presented at: Precision Medicine Virtual Event Series 2019
    1
    JUN 19, 2019 | 11:00 AM
    Selecting the right tools to build your pluripotent stem cell based disease models
    Selecting the right tools to build your pluripotent stem cell...
    DATE: June 19, 2019TIME: 11:00am PDT, 2:00pm EDT Abstract:...
    Speaker: Erik Willems, PhD
    Sponsored By: Thermo Fisher Scientific/Gibco
    3
    JUN 19, 2019 | 10:00 AM
    Getting started in 3D:  Ask an Expert
    Getting started in 3D: Ask an Expert
    DATE: June 19, 2019TIME: 10:00am PDT, 1:00pm EDT As we develop new methods to create more biologically relevant models for research in understanding disease etiology and in...
    Speaker: Mark Kennedy, Ph.D. , Richard Josephson, PhD
    Sponsored By: Thermo Fisher Scientific
    6
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