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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 13, 2018 | 12:00 PM
      Symbiotic Programing of Plants for Stress Tolerance with Fungal Endophytes: Altering the Future of Food Security, Political Stability and Poverty
      Symbiotic Programing of Plants for Stress Tolerance with Fungal...
      The greatest need in agriculture this century is to mitigate impacts of abiotic (drought, temperature, salinity) and biotic (pathogens, pests) stresses on crop plants.  Efforts over the...
      Speaker: Rusty Rodriguez, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2018
      3
      SEP 13, 2018 | 6:00 AM
      The Hurricane Microbiome Project: Environmental Exposures and Population Health
      The Hurricane Microbiome Project: Environmental Exposures and...
      The Alkek Center for Metagenomics and Microbiome Research (CMMR) at Baylor College of Medicine is pursuing numerous research and development efforts in the study of how the microbiome impacts...
      Speaker: Joseph Petrosino, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2018
      1
      SEP 12, 2018 | 1:30 PM
      Connect Across 1000s of Expertly Curated Genomics Datasets Using QIAGEN's Immunology Focused DiseaseLand Database
      Connect Across 1000s of Expertly Curated Genomics Datasets Using...
      DiseaseLand is an integrated genomics database and visualization software that helps researchers explore 1000s of public and private datasets covering, but not limited to therapeutic areas su...
      Speaker: Lucy Williams, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2018
      Sponsored By: QIAGEN
      1
      SEP 12, 2018 | 1:30 PM
      The NCTC 3000 Project: Mapping the Genetic Codes of 3000 Pathogenic Bacteria
      The NCTC 3000 Project: Mapping the Genetic Codes of 3000 Pathogenic...
      Reducing the impact of infectious diseases is becoming increasingly vital as the prevalence of antimicrobial resistance (AMR) continues to rise, threatening the effective prevention and treat...
      Speaker: Julie Russell, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2018
      1
      SEP 12, 2018 | 12:00 PM
      ONETest PathoGenome: A Target Hybridization-Based Next-Generation Sequencing Assay to Tackle Undiagnosed Infections
      ONETest PathoGenome: A Target Hybridization-Based Next-Generation...
      Every year, approximately 800,000 critically ill patients are hospitals in the USA with undiagnosed infections. The only option is to treat these patients with broad-spectrum antimicrobial th...
      Speaker: Mohammad Qadir, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2018
      1 1
      SEP 12, 2018 | 10:30 AM
      Bacteria that Eat Electricity: Understanding Biocathodes Using Culture Independent Techniques
      Bacteria that Eat Electricity: Understanding Biocathodes Using...
      Some bacteria can use an electrode as an electron donor for respiration, generating an electrical current in the process. We are trying to understand a bacterial community that uses electrici...
      Speaker: Brian Eddie, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2018
      2 1
      JUN 29, 2018 | 9:00 AM
      Diet and gene interactions in the control of central cell metabolism
      Diet and gene interactions in the control of central cell metabolism
      DATE: June 29, 2018TIME: 09:00AM PDT, 12:00PM EDT There is significant epidemiological evidence to suggest that the consumption of a high-broccoli diet is associated with a r...
      Speaker: Sophie Prosolek
      Sponsored By: Thermo Fisher Scientific/Gibco
      6 2
      JUN 21, 2018 | 7:30 AM
      Keynote Presentation: Paving the Path Towards Precision Medicine in Inflammatory Bowel Diseases
      Keynote Presentation: Paving the Path Towards Precision Medicine...
      Crohn’s disease and ulcerative colitis also known as inflammatory bowel diseases or IBD, are characterized by chronic, recurrent inflammation of the gastrointestinal tract, which result...
      Speaker: Andres Hurtado-Lorenzo, PhD
      Presented at: Precision Medicine Virtual Event Series 2018
      1
      JUN 21, 2018 | 6:00 AM
      Rapid Whole Genome Sequencing in the NICU and PICU Decreases Infant Morbidity and Mortality
      Rapid Whole Genome Sequencing in the NICU and PICU Decreases Infant...
      Rare disease affects 30 million people in the United States, with nearly 50% of cases affecting children. Because nearly 80% of rare diseases are genetic, advancements in genomic testing are...
      Speaker: Stephen Kingsmore, PhD, MD
      Presented at: Precision Medicine Virtual Event Series 2018
      1
      JUN 20, 2018 | 1:30 PM
      Regulation of Precision Medicine
      Regulation of Precision Medicine
      Regulation of precision medicine is rapidly evolving.  The pre-existing regulatory framework did not contemplate many of the products and technologies which are becoming available with p...
      Speaker: Neil Belson
      Presented at: Precision Medicine Virtual Event Series 2018
      3
      JUN 20, 2018 | 12:00 PM
      Precision Medicine: The Way Forward!
      Precision Medicine: The Way Forward!
      Recent advancements in the precision medicine field have presented a great promise to provide innovative solutions to pharmaceutical and healthcare industry to help transform medicine. By fin...
      Speaker: Prasun Mishra, MsC, PhD
      Presented at: Precision Medicine Virtual Event Series 2018
      1
      JUN 20, 2018 | 9:00 AM
      Better Care with Better Knowledge
      Better Care with Better Knowledge
      When the human genome was sequenced almost 15 years ago, it was a milestone for the understanding of an individual’s genome.  However to fully understand a disease, millions of ind...
      Speaker: Rupert Yip, PhD
      Presented at: Precision Medicine Virtual Event Series 2018
      Sponsored By: QIAGEN
      1
      MAY 31, 2018 | 12:00 PM
      Cas9-Based Genome Engineering
      Cas9-Based Genome Engineering
      I will discuss three novel technologies that our laboratory has developed in recent years. In the first part of the talk, I will describe our work on engineering variants of the RNA-guided en...
      Speaker: Alejandro Chavez, MD, PhD
      Presented at: Lab Automation Virtual Event Series 2018
      2
      MAY 22, 2018 | 8:00 AM
      Drug development with nuclear receptor knockout and humanized rat models
      Drug development with nuclear receptor knockout and humanized...
      DATE: May 22, 2018TIME: 08:00AM PDT The nuclear receptors pregnane X receptor (PXR) and constitutive androstane receptor (CAR) are closely related transcription factors that...
      Speaker: Kevin Forbes, PhD , Andrew Brown, MS
      Sponsored By: Horizon Discovery
      5
      MAY 10, 2018 | 1:30 PM
      C.E. CREDITS
      Population Genomic Screening: The Alabama Genomic Health Initiative
      Population Genomic Screening: The Alabama Genomic Health Initiative
      As the costs of genomic analysis decline it becomes possible to offer widescale population genomic analysis to screen for genetic disorders.  The Alabama Genomic Health Initiative was es...
      Speaker: Bruce R. Korf, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2018
      1
      MAY 10, 2018 | 10:30 AM
      Cost Effective, Robust Digital Gene Expression Profiling of Up to 96 Targets in 96 Samples for Cell Line Screening with nCounter® PlexSet™ Reagents
      Cost Effective, Robust Digital Gene Expression Profiling of Up...
      Cell line screening studies require highly efficient protocols for studying many samples in parallel.  We have developed a lyse-and-go protocol for digital gene expression profiling of u...
      Speaker: Chris Merritt, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2018
      Sponsored By: NanoString Technologies
      1
      MAY 10, 2018 | 10:30 AM
      C.E. CREDITS
      Excavating the Deep Genome: Deciphering Structural Variation in Complex and Repetitive Regions
      Excavating the Deep Genome: Deciphering Structural Variation in...
      Structural variants (SVs), defined as rearrangements of genomic sequences, are both a major source of genetic diversity in human populations and are also directly responsible for the pathogen...
      Speaker: Ryan E Mills, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2018
      1
      MAY 10, 2018 | 7:30 AM
      Keynote Presentation: An Introduction to the All of Us Research Program
      Keynote Presentation: An Introduction to the All of Us Research...
      The All of Us Research Program is a historic effort to gather data from one million or more people living in the United States to accelerate research and improve health. By taking into accoun...
      Speaker: Katherine Blizinsky, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2018
      1
      MAY 09, 2018 | 1:30 PM
      Next-Generation Sequencing to Understand the Function of miRNAs in Human IPSC-Cardiomyocyte Disease Models
      Next-Generation Sequencing to Understand the Function of miRNAs...
      There is increasing evidence that intracellular miRNAs play a role in the pathogenesis of many complex disease phenotypes.  In addition, extracellular miRNAs in exosomes are emerging as...
      Speaker: Ulrich Broeckel, MD , Amy Turner, BS
      Presented at: Genetics and Genomics Virtual Event Series 2018
      Sponsored By: QIAGEN
      1
      MAY 09, 2018 | 12:00 PM
      Knowledge Portals: Accelerating Action from Genetic Data
      Knowledge Portals: Accelerating Action from Genetic Data
      The Type 2 Diabetes Knowledge Portal is an open-access resource for human genetic information on type 2 diabetes (T2D). It is a central repository for data from large genomic studies that ide...
      Speaker: Noel Burtt
      Presented at: Genetics and Genomics Virtual Event Series 2018
      2
      MAY 09, 2018 | 12:00 PM
      Using Genome Wide Sequencing to Identify a Gene-Gene Interaction
      Using Genome Wide Sequencing to Identify a Gene-Gene Interaction
      In this presentation I will describe results from a family study designed to identify the genetic cause for familial clustering of several early onset cancers.   Data from next generatio...
      Speaker: Christopher I Amos, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2018
      1
      MAY 09, 2018 | 10:30 AM
      C.E. CREDITS
      Finding Coherence in Chaos by Embracing Evolution and Complexity
      Finding Coherence in Chaos by Embracing Evolution and Complexity
      Complex disease phenotypes - obesity, type II diabetes, and cancer challenge simple models in both evolution and biology.   Examination of molecular networks and their dynamic behavior o...
      Speaker: Kenneth Buetow, PhD, FACMI
      Presented at: Genetics and Genomics Virtual Event Series 2018
      1
      MAY 09, 2018 | 9:00 AM
      C.E. CREDITS
      Size Matters: Accurate Detection and Phasing of Structural Variations
      Size Matters: Accurate Detection and Phasing of Structural Variations
      In this presentation I will describe our latest work to obtain comprehensive genomes leveraging long and linked reads. The vast majority of NGS whole-genome data covers hundreds of thousands...
      Speaker: Fritz Sedlazeck, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2018
      1
      MAY 09, 2018 | 7:30 AM
      C.E. CREDITS
      Keynote Presentation: Informing Clinical Interpretations of Structural Chromosome Rearrangements:  Implementing Evolving Knowledge from Chromatin Structure
      Keynote Presentation: Informing Clinical Interpretations of Structural...
      The arrangement of chromatin inside the nucleus has long been recognized as a key element in genomic stability and an active participant in transcriptional control. With the development and d...
      Speaker: Cynthia Morton, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2018
      3
    SEP 13, 2018 | 12:00 PM
    Symbiotic Programing of Plants for Stress Tolerance with Fungal Endophytes: Altering the Future of Food Security, Political Stability and Poverty
    Symbiotic Programing of Plants for Stress Tolerance with Fungal...
    The greatest need in agriculture this century is to mitigate impacts of abiotic (drought, temperature, salinity) and biotic (pathogens, pests) stresses on crop plants.  Efforts over the...
    Speaker: Rusty Rodriguez, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2018
    3
    SEP 13, 2018 | 6:00 AM
    The Hurricane Microbiome Project: Environmental Exposures and Population Health
    The Hurricane Microbiome Project: Environmental Exposures and...
    The Alkek Center for Metagenomics and Microbiome Research (CMMR) at Baylor College of Medicine is pursuing numerous research and development efforts in the study of how the microbiome impacts...
    Speaker: Joseph Petrosino, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2018
    1
    SEP 12, 2018 | 1:30 PM
    Connect Across 1000s of Expertly Curated Genomics Datasets Using QIAGEN's Immunology Focused DiseaseLand Database
    Connect Across 1000s of Expertly Curated Genomics Datasets Using...
    DiseaseLand is an integrated genomics database and visualization software that helps researchers explore 1000s of public and private datasets covering, but not limited to therapeutic areas su...
    Speaker: Lucy Williams, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2018
    Sponsored By: QIAGEN
    1
    SEP 12, 2018 | 1:30 PM
    The NCTC 3000 Project: Mapping the Genetic Codes of 3000 Pathogenic Bacteria
    The NCTC 3000 Project: Mapping the Genetic Codes of 3000 Pathogenic...
    Reducing the impact of infectious diseases is becoming increasingly vital as the prevalence of antimicrobial resistance (AMR) continues to rise, threatening the effective prevention and treat...
    Speaker: Julie Russell, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2018
    1
    SEP 12, 2018 | 12:00 PM
    ONETest PathoGenome: A Target Hybridization-Based Next-Generation Sequencing Assay to Tackle Undiagnosed Infections
    ONETest PathoGenome: A Target Hybridization-Based Next-Generation...
    Every year, approximately 800,000 critically ill patients are hospitals in the USA with undiagnosed infections. The only option is to treat these patients with broad-spectrum antimicrobial th...
    Speaker: Mohammad Qadir, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2018
    1 1
     
     
  • SEP 12, 2018 | 10:30 AM
    Bacteria that Eat Electricity: Understanding Biocathodes Using Culture Independent Techniques
    Bacteria that Eat Electricity: Understanding Biocathodes Using...
    Some bacteria can use an electrode as an electron donor for respiration, generating an electrical current in the process. We are trying to understand a bacterial community that uses electrici...
    Speaker: Brian Eddie, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2018
    2 1
    JUN 29, 2018 | 9:00 AM
    Diet and gene interactions in the control of central cell metabolism
    Diet and gene interactions in the control of central cell metabolism
    DATE: June 29, 2018TIME: 09:00AM PDT, 12:00PM EDT There is significant epidemiological evidence to suggest that the consumption of a high-broccoli diet is associated with a r...
    Speaker: Sophie Prosolek
    Sponsored By: Thermo Fisher Scientific/Gibco
    6 2
    JUN 21, 2018 | 7:30 AM
    Keynote Presentation: Paving the Path Towards Precision Medicine in Inflammatory Bowel Diseases
    Keynote Presentation: Paving the Path Towards Precision Medicine...
    Crohn’s disease and ulcerative colitis also known as inflammatory bowel diseases or IBD, are characterized by chronic, recurrent inflammation of the gastrointestinal tract, which result...
    Speaker: Andres Hurtado-Lorenzo, PhD
    Presented at: Precision Medicine Virtual Event Series 2018
    1
    JUN 21, 2018 | 6:00 AM
    Rapid Whole Genome Sequencing in the NICU and PICU Decreases Infant Morbidity and Mortality
    Rapid Whole Genome Sequencing in the NICU and PICU Decreases Infant...
    Rare disease affects 30 million people in the United States, with nearly 50% of cases affecting children. Because nearly 80% of rare diseases are genetic, advancements in genomic testing are...
    Speaker: Stephen Kingsmore, PhD, MD
    Presented at: Precision Medicine Virtual Event Series 2018
    1
    JUN 20, 2018 | 1:30 PM
    Regulation of Precision Medicine
    Regulation of Precision Medicine
    Regulation of precision medicine is rapidly evolving.  The pre-existing regulatory framework did not contemplate many of the products and technologies which are becoming available with p...
    Speaker: Neil Belson
    Presented at: Precision Medicine Virtual Event Series 2018
    3
     
     
  • JUN 20, 2018 | 12:00 PM
    Precision Medicine: The Way Forward!
    Precision Medicine: The Way Forward!
    Recent advancements in the precision medicine field have presented a great promise to provide innovative solutions to pharmaceutical and healthcare industry to help transform medicine. By fin...
    Speaker: Prasun Mishra, MsC, PhD
    Presented at: Precision Medicine Virtual Event Series 2018
    1
    JUN 20, 2018 | 9:00 AM
    Better Care with Better Knowledge
    Better Care with Better Knowledge
    When the human genome was sequenced almost 15 years ago, it was a milestone for the understanding of an individual’s genome.  However to fully understand a disease, millions of ind...
    Speaker: Rupert Yip, PhD
    Presented at: Precision Medicine Virtual Event Series 2018
    Sponsored By: QIAGEN
    1
    MAY 31, 2018 | 12:00 PM
    Cas9-Based Genome Engineering
    Cas9-Based Genome Engineering
    I will discuss three novel technologies that our laboratory has developed in recent years. In the first part of the talk, I will describe our work on engineering variants of the RNA-guided en...
    Speaker: Alejandro Chavez, MD, PhD
    Presented at: Lab Automation Virtual Event Series 2018
    2
    MAY 22, 2018 | 8:00 AM
    Drug development with nuclear receptor knockout and humanized rat models
    Drug development with nuclear receptor knockout and humanized...
    DATE: May 22, 2018TIME: 08:00AM PDT The nuclear receptors pregnane X receptor (PXR) and constitutive androstane receptor (CAR) are closely related transcription factors that...
    Speaker: Kevin Forbes, PhD , Andrew Brown, MS
    Sponsored By: Horizon Discovery
    5
    MAY 10, 2018 | 1:30 PM
    C.E. CREDITS
    Population Genomic Screening: The Alabama Genomic Health Initiative
    Population Genomic Screening: The Alabama Genomic Health Initiative
    As the costs of genomic analysis decline it becomes possible to offer widescale population genomic analysis to screen for genetic disorders.  The Alabama Genomic Health Initiative was es...
    Speaker: Bruce R. Korf, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2018
    1
     
     
  • MAY 10, 2018 | 10:30 AM
    Cost Effective, Robust Digital Gene Expression Profiling of Up to 96 Targets in 96 Samples for Cell Line Screening with nCounter® PlexSet™ Reagents
    Cost Effective, Robust Digital Gene Expression Profiling of Up...
    Cell line screening studies require highly efficient protocols for studying many samples in parallel.  We have developed a lyse-and-go protocol for digital gene expression profiling of u...
    Speaker: Chris Merritt, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2018
    Sponsored By: NanoString Technologies
    1
    MAY 10, 2018 | 10:30 AM
    C.E. CREDITS
    Excavating the Deep Genome: Deciphering Structural Variation in Complex and Repetitive Regions
    Excavating the Deep Genome: Deciphering Structural Variation in...
    Structural variants (SVs), defined as rearrangements of genomic sequences, are both a major source of genetic diversity in human populations and are also directly responsible for the pathogen...
    Speaker: Ryan E Mills, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2018
    1
    MAY 10, 2018 | 7:30 AM
    Keynote Presentation: An Introduction to the All of Us Research Program
    Keynote Presentation: An Introduction to the All of Us Research...
    The All of Us Research Program is a historic effort to gather data from one million or more people living in the United States to accelerate research and improve health. By taking into accoun...
    Speaker: Katherine Blizinsky, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2018
    1
    MAY 09, 2018 | 1:30 PM
    Next-Generation Sequencing to Understand the Function of miRNAs in Human IPSC-Cardiomyocyte Disease Models
    Next-Generation Sequencing to Understand the Function of miRNAs...
    There is increasing evidence that intracellular miRNAs play a role in the pathogenesis of many complex disease phenotypes.  In addition, extracellular miRNAs in exosomes are emerging as...
    Speaker: Ulrich Broeckel, MD , Amy Turner, BS
    Presented at: Genetics and Genomics Virtual Event Series 2018
    Sponsored By: QIAGEN
    1
    MAY 09, 2018 | 12:00 PM
    Knowledge Portals: Accelerating Action from Genetic Data
    Knowledge Portals: Accelerating Action from Genetic Data
    The Type 2 Diabetes Knowledge Portal is an open-access resource for human genetic information on type 2 diabetes (T2D). It is a central repository for data from large genomic studies that ide...
    Speaker: Noel Burtt
    Presented at: Genetics and Genomics Virtual Event Series 2018
    2
     
     
  • MAY 09, 2018 | 12:00 PM
    Using Genome Wide Sequencing to Identify a Gene-Gene Interaction
    Using Genome Wide Sequencing to Identify a Gene-Gene Interaction
    In this presentation I will describe results from a family study designed to identify the genetic cause for familial clustering of several early onset cancers.   Data from next generatio...
    Speaker: Christopher I Amos, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2018
    1
    MAY 09, 2018 | 10:30 AM
    C.E. CREDITS
    Finding Coherence in Chaos by Embracing Evolution and Complexity
    Finding Coherence in Chaos by Embracing Evolution and Complexity
    Complex disease phenotypes - obesity, type II diabetes, and cancer challenge simple models in both evolution and biology.   Examination of molecular networks and their dynamic behavior o...
    Speaker: Kenneth Buetow, PhD, FACMI
    Presented at: Genetics and Genomics Virtual Event Series 2018
    1
    MAY 09, 2018 | 9:00 AM
    C.E. CREDITS
    Size Matters: Accurate Detection and Phasing of Structural Variations
    Size Matters: Accurate Detection and Phasing of Structural Variations
    In this presentation I will describe our latest work to obtain comprehensive genomes leveraging long and linked reads. The vast majority of NGS whole-genome data covers hundreds of thousands...
    Speaker: Fritz Sedlazeck, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2018
    1
    MAY 09, 2018 | 7:30 AM
    C.E. CREDITS
    Keynote Presentation: Informing Clinical Interpretations of Structural Chromosome Rearrangements:  Implementing Evolving Knowledge from Chromatin Structure
    Keynote Presentation: Informing Clinical Interpretations of Structural...
    The arrangement of chromatin inside the nucleus has long been recognized as a key element in genomic stability and an active participant in transcriptional control. With the development and d...
    Speaker: Cynthia Morton, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2018
    3
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