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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 14, 2017 | 6:00 AM
      BENEFICIAL MICROBES:  Sharing of the Microbial Informational Library
      BENEFICIAL MICROBES: Sharing of the Microbial Informational Library
      INTRODUCTION:  The recent coincidental emergence of the human microbiota and the Hologneomic Theory of Co-evolution unmasked the “Dual Citizenship” of symbiotic microbes and...
      Speaker: John Thomas, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2017
      1
      SEP 13, 2017 | 9:00 AM
      How Biomarker Testing Shapes Immunotherapy
      How Biomarker Testing Shapes Immunotherapy
      The immune system is complex and dynamic, focused on defending the body from a host of pathogens ranging from viruses to cancer. A number of different mechanisms have evolved that help the bo...
      Speaker: Condie Carmack, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2017
      Sponsored By: Vela Diagnostics
      1
      SEP 13, 2017 | 7:30 AM
      Keynote Presentation: Using phage to select for evolution of reduced virulence in pathogenic bacteria
      Keynote Presentation: Using phage to select for evolution of reduced...
      Increasing prevalence and severity of multi-drug-resistant (MDR) bacterial infections has necessitated novel antibacterial strategies.  Ideally, new approaches would target bacterial pat...
      Speaker: Paul Turner, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2017
      1
      SEP 13, 2017 | 6:00 AM
      Next-generation probiotics targeting C. difficile infection
      Next-generation probiotics targeting C. difficile infection
      Adjunct probiotic therapy has the potential to decrease Clostridium difficile disease incidence and severity. After screening several potential probiotic bacteria for intrinsic resistance to...
      Speaker: Jennifer Spinler, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2017
      1
      AUG 30, 2017 | 10:00 AM
      WEBINAR: Understanding cell reprogramming in treatment-resistant prostate cancer using organoids
      WEBINAR: Understanding cell reprogramming in treatment-resistant...
      DATE: August 30, 2017TIME: 10:00am PT, 1:00pm ETRecent studies show that cancer cells can resist treatment by changing into a different cell type. Many treatments for specific cancers,...
      Speaker: Kristine Wadosky, PhD
      Sponsored By: Thermo Fisher Scientific/Gibco
      9 2
      AUG 01, 2017 | 12:00 AM
      Accelerating cures for rare childhood diseases using iPSC models
      Accelerating cures for rare childhood diseases using iPSC models
      Creating inducible Pluripotent Stem Cell (iPSC) collections of rare patients scattered world-wide can lower the barrier of biological discovery of rare disease, provide a platform for potenti...
      Speaker: Christina Waters
      Presented at: 6th annual 24 Hours of Stem Cellsā„¢ virtual event
      1
      JUL 20, 2017 | 8:00 AM
      WEBINAR: Application of targeted next-generation sequencing (NGS) panels in neurodevelopmental disorder research
      WEBINAR: Application of targeted next-generation sequencing (NGS)...
      DATE: July 20, 2017TIME: 8:00am PT, 11:00am ET, 5:00pm CESTNeurodevelopmental disorders (NDDs) are clinically and etiologically highly heterogeneous and are characterized by a...
      Speaker: Alessandra Murgia , Francisco Hernandez-Guzman
      Sponsored By: Thermo Fisher Scientific - Ion Torrent
      5
      JUL 01, 2017 | 8:00 AM
      iPSC-derived neural cells for drug discovery of mitochondrial brain diseases
      iPSC-derived neural cells for drug discovery of mitochondrial...
      Mitochondrial defects represent a common pathogenetic mechanism associated with neurodegeneration. At the same time, mitochondrial DNA (mtDNA) mutations frequently cause neurological diseases...
      Speaker: Alessandro Prigione
      Presented at: 5th annual 24 Hours of Stem Cellsā„¢ virtual event
      2
      JUL 01, 2017 | 12:00 AM
      Improvements in building in vitro pluripotent stem cell-derived disease models
      Improvements in building in vitro pluripotent stem cell-derived...
      The discovery of the CRISPR/Cas9 system has transformed research and now allows straightforward alterations in the genome and can be exploited to introduce changes to mimic diseases. This pre...
      Speaker: Erik Willems, PhD
      Presented at: 6th annual 24 Hours of Stem Cellsā„¢ virtual event
      2
      JUL 01, 2017 | 12:00 AM
      New Tools for improved CRISPR gene-editing in stem cells
      New Tools for improved CRISPR gene-editing in stem cells
      The development of the CRISPR/Cas9 gene-editing platform enables the rapid generation of new genetically modified stem cell models of human diseases, as well as providing new potential therap...
      Speaker: James Kehler VMD, PhD
      Presented at: 5th annual 24 Hours of Stem Cellsā„¢ virtual event
      2
      JUL 01, 2017 | 12:00 AM
      Comprehensive Characterization of Pluripotent Stem Cells
      Comprehensive Characterization of Pluripotent Stem Cells
      As reprogramming methodologies have become more reliable and efficient, corresponding improvements were needed in the characterization workflow as well; specifically in terms of the speed, ef...
      Speaker: Suman Pradhan
      Presented at: 5th annual 24 Hours of Stem Cellsā„¢ virtual event
      1
      JUN 08, 2017 | 12:00 PM
      Improved CRISPR Cas9 Editing of Pluripotent Stem Cells Utilizing the Latest Technologies from Thermo Fisher Scientific
      Improved CRISPR Cas9 Editing of Pluripotent Stem Cells Utilizing...
      The emergence of technology for development of induced pluripotent stem cells (iPSCs) from somatic cells, such as skin and blood cells, has resulted in the ability of researchers to have limi...
      Speaker: Rhonda Newman, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsā„¢ virtual event
      3
      JUN 08, 2017 | 10:00 AM
      WEBINAR: Analysis of the transcriptome of carriers of pathological variants in PSEN1, PSEN2 and APP that cause Alzheimer's Disease
      WEBINAR: Analysis of the transcriptome of carriers of pathological...
      DATE: June 8, 2017TIME: 10:00AM PDT, 1:00PM EDT, 7:00PM CESTAlzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in m...
      Speaker: Oscar Harari, PhD
      Sponsored By: Lexogen
      6
      JUN 07, 2017 | 9:00 AM
      WEBINAR: Generation of purified human iPSC derived cardiomyocytes using clinically relevant workflow
      WEBINAR: Generation of purified human iPSC derived cardiomyocytes...
      DATE: June 7, 2017TIME: 9:00AM PDT, 12:00PM EDTPluripotent stem cells (PSCs) offer an unlimited source of human cardiovascular cells for research and the development of cardiac regenera...
      Speaker: Todd Herron, BS, PhD
      Sponsored By: Miltenyi Biotec
      5 1
      MAY 31, 2017 | 9:00 AM
      WEBINAR: Disruptive technologies for improving disease resistance in crop plants. So many genomes ...and so little time
      WEBINAR: Disruptive technologies for improving disease resistance...
      DATE: May 31, 2017TIME: 9:00AM PDT, 12:00PM ETAlthough more remains to be learnt, great advances have recently been made in the understanding of the molecular & genetic bases of dis...
      Speaker: Richard Michelmore, PhD Natural Sciences
      Sponsored By: Dovetail Genomics
      6
      MAY 25, 2017 | 10:30 AM
      Open Targets Platform: mining gene and disease evidence for improved drug target selection.
      Open Targets Platform: mining gene and disease evidence for improved...
      Open Targets is a public-private partnership made up of four global leading institutions in the fields of pharmaceuticals, bioinformatics and genomics, GSK, EMBL-EBI, the Wellcome Trust Sange...
      Speaker: Denise Carvalho-Silva
      Presented at: Lab Automation Virtual Event Series 2017
      1
      MAY 22, 2017 | 8:00 AM
      WEBINAR: Interactions between the Mycobiome and Bacteriome: Impact on Health and Disease
      WEBINAR: Interactions between the Mycobiome and Bacteriome: Impact...
      DATE: May 22, 2017TIME: 8:00AM PDT, 11:00AM ETCrohn's disease (CD) results from a complex interplay between host genetic factors and endogenous microbial communities. In the current...
      Speaker: Mahmoud Ghannoum, PHD, MBA, FIDSA, FAAM , Shuiquan Tang, PhD
      Sponsored By: Zymo Research
      9
      MAY 17, 2017 | 10:30 AM
      WEBINAR: Improved differentiation of stem cell-derived neurons and downstream applications through the reduction of progenitor proliferation with CultureOneā„¢ Supplement
      WEBINAR: Improved differentiation of stem cell-derived neurons...
      DATE: May 17, 2017TIME: 10:30am PT, 1:30pm ETNeurons derived from human pluripotent stem cells (hPSCs) and primary rodent neurons both are excellent resources for disease modeling and d...
      Speaker: David Kuninger, PhD
      Sponsored By: Thermo Fisher Scientific/Gibco
      6
      MAY 11, 2017 | 1:30 PM
      Pandora's Genome: Making the Revolution Routine
      Pandora's Genome: Making the Revolution Routine
      Much has been said about the promise of Next Generation Sequencing (NGS) to revolutionise diagnosis of rare diseases, and there are many examples of success in this arena. However, the majori...
      Speaker: Shane McKee, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      2
      MAY 11, 2017 | 10:30 AM
      Rapid Whole Genome Sequencing in the NICU and PICU at Rady Children's Hospital
      Rapid Whole Genome Sequencing in the NICU and PICU at Rady Children's...
      Genetic disease is the leading cause of death for infants in the intensive care units. Traditional testing is too slow to provide physicians a timely diagnosis to help guide the management of...
      Speaker: Shimul Chowdhury, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
      MAY 11, 2017 | 10:30 AM
      C.E. CREDITS
      Functional Characterization of Gene Regulatory Elements
      Functional Characterization of Gene Regulatory Elements
      Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammati...
      Speaker: Nadav Ahituv, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
      MAY 11, 2017 | 9:00 AM
      Keynote Presentation - Using network models to understand common complex disease predisposition and progression
      Keynote Presentation - Using network models to understand common...
      The study of inherited genomic variation through genome wide association studies (GWAS) promised to provide key biologic insight into common diseases of public health significance such as obe...
      Speaker: Kenneth Buetow, PhD, FACMI
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
      MAY 11, 2017 | 7:30 AM
      C.E. CREDITS
      Keynote Presentation: Genomics in the clinic: A revolution for healthcare and medical research
      Keynote Presentation: Genomics in the clinic: A revolution for...
      Genetic testing currently plays a relatively niche role in healthcare, with testing typically limited to single genes and targeting a relatively narrow range of diseases, including paediatric...
      Speaker: Marcel Dinger, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      2
      MAY 11, 2017 | 6:00 AM
      Precision Medicine in Juvenile Psychosis
      Precision Medicine in Juvenile Psychosis
      Boston Children’s Hospital is developing the infrastructure needed for large-scale psychiatric research and treatment discovery.   The Manton Center for Orphan Disease Research and...
      Speaker: Catherine Brownstein, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
    SEP 14, 2017 | 6:00 AM
    BENEFICIAL MICROBES:  Sharing of the Microbial Informational Library
    BENEFICIAL MICROBES: Sharing of the Microbial Informational Library
    INTRODUCTION:  The recent coincidental emergence of the human microbiota and the Hologneomic Theory of Co-evolution unmasked the “Dual Citizenship” of symbiotic microbes and...
    Speaker: John Thomas, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2017
    1
    SEP 13, 2017 | 9:00 AM
    How Biomarker Testing Shapes Immunotherapy
    How Biomarker Testing Shapes Immunotherapy
    The immune system is complex and dynamic, focused on defending the body from a host of pathogens ranging from viruses to cancer. A number of different mechanisms have evolved that help the bo...
    Speaker: Condie Carmack, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2017
    Sponsored By: Vela Diagnostics
    1
    SEP 13, 2017 | 7:30 AM
    Keynote Presentation: Using phage to select for evolution of reduced virulence in pathogenic bacteria
    Keynote Presentation: Using phage to select for evolution of reduced...
    Increasing prevalence and severity of multi-drug-resistant (MDR) bacterial infections has necessitated novel antibacterial strategies.  Ideally, new approaches would target bacterial pat...
    Speaker: Paul Turner, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2017
    1
    SEP 13, 2017 | 6:00 AM
    Next-generation probiotics targeting C. difficile infection
    Next-generation probiotics targeting C. difficile infection
    Adjunct probiotic therapy has the potential to decrease Clostridium difficile disease incidence and severity. After screening several potential probiotic bacteria for intrinsic resistance to...
    Speaker: Jennifer Spinler, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2017
    1
    AUG 30, 2017 | 10:00 AM
    WEBINAR: Understanding cell reprogramming in treatment-resistant prostate cancer using organoids
    WEBINAR: Understanding cell reprogramming in treatment-resistant...
    DATE: August 30, 2017TIME: 10:00am PT, 1:00pm ETRecent studies show that cancer cells can resist treatment by changing into a different cell type. Many treatments for specific cancers,...
    Speaker: Kristine Wadosky, PhD
    Sponsored By: Thermo Fisher Scientific/Gibco
    9 2
     
     
  • AUG 01, 2017 | 12:00 AM
    Accelerating cures for rare childhood diseases using iPSC models
    Accelerating cures for rare childhood diseases using iPSC models
    Creating inducible Pluripotent Stem Cell (iPSC) collections of rare patients scattered world-wide can lower the barrier of biological discovery of rare disease, provide a platform for potenti...
    Speaker: Christina Waters
    Presented at: 6th annual 24 Hours of Stem Cellsā„¢ virtual event
    1
    JUL 20, 2017 | 8:00 AM
    WEBINAR: Application of targeted next-generation sequencing (NGS) panels in neurodevelopmental disorder research
    WEBINAR: Application of targeted next-generation sequencing (NGS)...
    DATE: July 20, 2017TIME: 8:00am PT, 11:00am ET, 5:00pm CESTNeurodevelopmental disorders (NDDs) are clinically and etiologically highly heterogeneous and are characterized by a...
    Speaker: Alessandra Murgia , Francisco Hernandez-Guzman
    Sponsored By: Thermo Fisher Scientific - Ion Torrent
    5
    JUL 01, 2017 | 8:00 AM
    iPSC-derived neural cells for drug discovery of mitochondrial brain diseases
    iPSC-derived neural cells for drug discovery of mitochondrial...
    Mitochondrial defects represent a common pathogenetic mechanism associated with neurodegeneration. At the same time, mitochondrial DNA (mtDNA) mutations frequently cause neurological diseases...
    Speaker: Alessandro Prigione
    Presented at: 5th annual 24 Hours of Stem Cellsā„¢ virtual event
    2
    JUL 01, 2017 | 12:00 AM
    Improvements in building in vitro pluripotent stem cell-derived disease models
    Improvements in building in vitro pluripotent stem cell-derived...
    The discovery of the CRISPR/Cas9 system has transformed research and now allows straightforward alterations in the genome and can be exploited to introduce changes to mimic diseases. This pre...
    Speaker: Erik Willems, PhD
    Presented at: 6th annual 24 Hours of Stem Cellsā„¢ virtual event
    2
    JUL 01, 2017 | 12:00 AM
    New Tools for improved CRISPR gene-editing in stem cells
    New Tools for improved CRISPR gene-editing in stem cells
    The development of the CRISPR/Cas9 gene-editing platform enables the rapid generation of new genetically modified stem cell models of human diseases, as well as providing new potential therap...
    Speaker: James Kehler VMD, PhD
    Presented at: 5th annual 24 Hours of Stem Cellsā„¢ virtual event
    2
     
     
  • JUL 01, 2017 | 12:00 AM
    Comprehensive Characterization of Pluripotent Stem Cells
    Comprehensive Characterization of Pluripotent Stem Cells
    As reprogramming methodologies have become more reliable and efficient, corresponding improvements were needed in the characterization workflow as well; specifically in terms of the speed, ef...
    Speaker: Suman Pradhan
    Presented at: 5th annual 24 Hours of Stem Cellsā„¢ virtual event
    1
    JUN 08, 2017 | 12:00 PM
    Improved CRISPR Cas9 Editing of Pluripotent Stem Cells Utilizing the Latest Technologies from Thermo Fisher Scientific
    Improved CRISPR Cas9 Editing of Pluripotent Stem Cells Utilizing...
    The emergence of technology for development of induced pluripotent stem cells (iPSCs) from somatic cells, such as skin and blood cells, has resulted in the ability of researchers to have limi...
    Speaker: Rhonda Newman, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsā„¢ virtual event
    3
    JUN 08, 2017 | 10:00 AM
    WEBINAR: Analysis of the transcriptome of carriers of pathological variants in PSEN1, PSEN2 and APP that cause Alzheimer's Disease
    WEBINAR: Analysis of the transcriptome of carriers of pathological...
    DATE: June 8, 2017TIME: 10:00AM PDT, 1:00PM EDT, 7:00PM CESTAlzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in m...
    Speaker: Oscar Harari, PhD
    Sponsored By: Lexogen
    6
    JUN 07, 2017 | 9:00 AM
    WEBINAR: Generation of purified human iPSC derived cardiomyocytes using clinically relevant workflow
    WEBINAR: Generation of purified human iPSC derived cardiomyocytes...
    DATE: June 7, 2017TIME: 9:00AM PDT, 12:00PM EDTPluripotent stem cells (PSCs) offer an unlimited source of human cardiovascular cells for research and the development of cardiac regenera...
    Speaker: Todd Herron, BS, PhD
    Sponsored By: Miltenyi Biotec
    5 1
    MAY 31, 2017 | 9:00 AM
    WEBINAR: Disruptive technologies for improving disease resistance in crop plants. So many genomes ...and so little time
    WEBINAR: Disruptive technologies for improving disease resistance...
    DATE: May 31, 2017TIME: 9:00AM PDT, 12:00PM ETAlthough more remains to be learnt, great advances have recently been made in the understanding of the molecular & genetic bases of dis...
    Speaker: Richard Michelmore, PhD Natural Sciences
    Sponsored By: Dovetail Genomics
    6
     
     
  • MAY 25, 2017 | 10:30 AM
    Open Targets Platform: mining gene and disease evidence for improved drug target selection.
    Open Targets Platform: mining gene and disease evidence for improved...
    Open Targets is a public-private partnership made up of four global leading institutions in the fields of pharmaceuticals, bioinformatics and genomics, GSK, EMBL-EBI, the Wellcome Trust Sange...
    Speaker: Denise Carvalho-Silva
    Presented at: Lab Automation Virtual Event Series 2017
    1
    MAY 22, 2017 | 8:00 AM
    WEBINAR: Interactions between the Mycobiome and Bacteriome: Impact on Health and Disease
    WEBINAR: Interactions between the Mycobiome and Bacteriome: Impact...
    DATE: May 22, 2017TIME: 8:00AM PDT, 11:00AM ETCrohn's disease (CD) results from a complex interplay between host genetic factors and endogenous microbial communities. In the current...
    Speaker: Mahmoud Ghannoum, PHD, MBA, FIDSA, FAAM , Shuiquan Tang, PhD
    Sponsored By: Zymo Research
    9
    MAY 17, 2017 | 10:30 AM
    WEBINAR: Improved differentiation of stem cell-derived neurons and downstream applications through the reduction of progenitor proliferation with CultureOneā„¢ Supplement
    WEBINAR: Improved differentiation of stem cell-derived neurons...
    DATE: May 17, 2017TIME: 10:30am PT, 1:30pm ETNeurons derived from human pluripotent stem cells (hPSCs) and primary rodent neurons both are excellent resources for disease modeling and d...
    Speaker: David Kuninger, PhD
    Sponsored By: Thermo Fisher Scientific/Gibco
    6
    MAY 11, 2017 | 1:30 PM
    Pandora's Genome: Making the Revolution Routine
    Pandora's Genome: Making the Revolution Routine
    Much has been said about the promise of Next Generation Sequencing (NGS) to revolutionise diagnosis of rare diseases, and there are many examples of success in this arena. However, the majori...
    Speaker: Shane McKee, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    2
    MAY 11, 2017 | 10:30 AM
    Rapid Whole Genome Sequencing in the NICU and PICU at Rady Children's Hospital
    Rapid Whole Genome Sequencing in the NICU and PICU at Rady Children's...
    Genetic disease is the leading cause of death for infants in the intensive care units. Traditional testing is too slow to provide physicians a timely diagnosis to help guide the management of...
    Speaker: Shimul Chowdhury, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
     
     
  • MAY 11, 2017 | 10:30 AM
    C.E. CREDITS
    Functional Characterization of Gene Regulatory Elements
    Functional Characterization of Gene Regulatory Elements
    Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammati...
    Speaker: Nadav Ahituv, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
    MAY 11, 2017 | 9:00 AM
    Keynote Presentation - Using network models to understand common complex disease predisposition and progression
    Keynote Presentation - Using network models to understand common...
    The study of inherited genomic variation through genome wide association studies (GWAS) promised to provide key biologic insight into common diseases of public health significance such as obe...
    Speaker: Kenneth Buetow, PhD, FACMI
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
    MAY 11, 2017 | 7:30 AM
    C.E. CREDITS
    Keynote Presentation: Genomics in the clinic: A revolution for healthcare and medical research
    Keynote Presentation: Genomics in the clinic: A revolution for...
    Genetic testing currently plays a relatively niche role in healthcare, with testing typically limited to single genes and targeting a relatively narrow range of diseases, including paediatric...
    Speaker: Marcel Dinger, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    2
    MAY 11, 2017 | 6:00 AM
    Precision Medicine in Juvenile Psychosis
    Precision Medicine in Juvenile Psychosis
    Boston Children’s Hospital is developing the infrastructure needed for large-scale psychiatric research and treatment discovery.   The Manton Center for Orphan Disease Research and...
    Speaker: Catherine Brownstein, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
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