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    Follow

    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 07, 2016 | 1:30 PM
      Biofilm Diversity and Ecology
      Biofilm Diversity and Ecology
      It is well accepted that microorganisms can exist as self-organized communities attached to surfaces and one another (i.e., biofilm), often surrounded by extracellular polymeric substances (E...
      Speaker: Matthew Fields, CBE
      Presented at: Microbiology & Immunology Virtual Event Series 2016
      2
      SEP 07, 2016 | 7:30 AM
      Keynote Speaker: Challenges towards a Universal Influenza Virus Vaccine
      Keynote Speaker: Challenges towards a Universal Influenza Virus...
      Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality.  The present modalities and va...
      Speaker: Peter Palese, PhD
      Presented at: Microbiology & Immunology Virtual Event Series 2016
      3
      AUG 30, 2016 | 8:00 AM
      Disease modeling in pluripotent stem cell-derived cardiomyocytes
      Disease modeling in pluripotent stem cell-derived cardiomyocytes
      Over the last 15 years, human pluripotent stem cell (hPSC) technologies have progressed from academic curiosities into tools with the promise to underpin commerce, leading to real progress in...
      Speaker: Chris Denning, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      2
      AUG 30, 2016 | 8:00 AM
      Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
      Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
      The isolation of human embryonic stem cells (hESCs) and the discovery of human induced pluripotent stem cell (hiPSC) reprogramming have sparked a renaissance in stem cell biology, in vitro di...
      Speaker: William Hendriks
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      1
      AUG 30, 2016 | 8:00 AM
      Use of Stem Cell models to assess Genetic Change Underlying Neurodevelopmental Disorders
      Use of Stem Cell models to assess Genetic Change Underlying Neurodevelopmental...
      The study of human genetic neurodevelopmental disorders (NDDs) is complicated by the inaccessibility of the relevant tissue for study: it is extremely rare to obtain post-surgical brain sampl...
      Speaker: Lachlan Jolly, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      1
      AUG 30, 2016 | 8:00 AM
      Building embryonic lineages
      Building embryonic lineages
      The human body is composed of about 200 different cell types. The identity and function of these distinct cell types are precisely programmed by the regulatory networks encoded in the 3 billi...
      Speaker: Leo Kurian, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      1
      AUG 30, 2016 | 8:00 AM
      Delivery solutions for robust CRISPR-based genomic editing in stem cells for disease model generation
      Delivery solutions for robust CRISPR-based genomic editing in...
      Stem cells, specifically induced pluripotent stem cells (iPSCs), offer exciting potential for the future of cell therapy and regenerative medicine. More recently, genetic engineering of stem ...
      Speaker: Nektaria Andronikou
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      Sponsored By: Thermo Fisher Scientific, Thermo Fisher Scientific
      0
      AUG 30, 2016 | 8:00 AM
      Improved differentiation of human pluripotent stem cell-derived neurons through reduction of progenitor proliferation: impact on downstream applications
      Improved differentiation of human pluripotent stem cell-derived...
      Neurons derived from human pluripotent stem cells (hPSCs), including embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs), are excellent resources for disease modeling and d...
      Speaker: David Kuninger, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      Sponsored By: Thermo Fisher Scientific, Thermo Fisher Scientific
      1
      AUG 24, 2016 | 8:00 AM
      Beyond Bone: Emerging Applications in Preclinical microCT Imaging
      Beyond Bone: Emerging Applications in Preclinical microCT Imaging
      DATE: August 24th 2016TIME:  8:00AM PST, 11:00AM ESTPreclinical micro-computed tomography (microCT) imaging systems are utilized across a wide range of applications requiring imagi...
      Speaker: Gael Rochefort, PhD , Chris Damoci
      Sponsored By: Revvity
      32
      JUN 22, 2016 | 8:00 AM
      Applications of targeted NGS panels for clinical research of primary immunodeficiency diseases
      Applications of targeted NGS panels for clinical research of primary...
      Primary immunodeficiencies (PIDs) are a group of more than 250 genetic disorders that disrupt the immune system, resulting in susceptibility to life-threatening infections, autoimmune disease...
      Speaker: Janet Chou, MD , Wayne Bainter
      Sponsored By: Thermo Fisher Scientific - Ion Torrent, Thermo Fisher Scientific - Ion Torrent
      4
      MAY 17, 2016 | 7:00 AM
      Involvement of Biologists in data analysis requires visualization
      Involvement of Biologists in data analysis requires visualization
      DATE: May 17, 2016 TIME: 7am Pacific time, 10am Eastern time, 4pm Swedish time Data generation is becoming easier and easier and many organizations have matured in their data storage and ...
      Speaker: Carl-Johan Ivarsson, MSc , Thoas Fioretos, MD, PhD
      Sponsored By: Qlucore, Qlucore
      5 1
      MAY 12, 2016 | 3:00 PM
      Using big data to interpret genomes for diagnostics, therapeutics, and precision medicine
      Using big data to interpret genomes for diagnostics, therapeutics,...
      Millions of individuals have been sequenced or genotyped and linked with medical records, providing an exciting opportunity for therapeutic target discovery. My lab has been using a resilienc...
      Speaker: Rong Chen, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 12, 2016 | 12:00 PM
      Implementation of genomic assays for tumor genome profiling in a clinical laboratory setting
      Implementation of genomic assays for tumor genome profiling in...
      In order to realize the benefits of personalized cancer therapy, increasing demands are placed upon clinical laboratories to provide timely, comprehensive, clinically actionable, and analytic...
      Speaker: Sarah Murray, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 12, 2016 | 12:00 PM
      Learning Biology from Networks and their Structure
      Learning Biology from Networks and their Structure
      Network models are an invaluable tool for integrating multiple data types and for modeling interactions between biological elements. One common question that arises, however, is what to do wi...
      Speaker: John Platig, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 12, 2016 | 7:30 AM
      Polymorphic miRNA binding sites in the WFS1 gene are risk factors of diabetes mellitus
      Polymorphic miRNA binding sites in the WFS1 gene are risk factors...
           Wolframin is a major protein of the endoplasmic reticulum, it is expressed in most tissues and clinical data demonstrate its significant connection to diabetes mellitus. L...
      Speaker: Zsolt Rónai, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      5
      MAY 12, 2016 | 6:00 AM
      The sequencing of 10,000 Human Genomes
      The sequencing of 10,000 Human Genomes
      Technological advances allow for the large scale sequencing of the whole human genome. Most studies have generated population-based information on human diversity using low to intermediate co...
      Speaker: Amalio Telenti MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 11, 2016 | 1:30 PM
      C.E. CREDITS
      Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor Composition
      Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor...
      Human breast tumors have been shown to exhibit extensive inter- and intra-tumor heterogeneity. While recent advances in genomic technologies have allowed us to deconvolute this heterogeneity,...
      Speaker: Ioannis (Jiannis) Ragoussis, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      3
      MAY 11, 2016 | 12:00 PM
      C.E. CREDITS
      Implementing Longitudinal Clinical/Whole Genome Research
      Implementing Longitudinal Clinical/Whole Genome Research
      Technological advances have made genomic sequencing more affordable, efficient, and available. Questions related to the implementation and effects of large-scale sequencing in healthcare have...
      Speaker: Benjamin Solomon, MD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      3
      MAY 11, 2016 | 9:00 AM
      Keynote: Empirical Data on the Path to Genomic Medicine
      Keynote: Empirical Data on the Path to Genomic Medicine
      In this time of incredible promise for genomic medicine, the Genomes2People (G2P) Research Program in Translational Genomics and Health Outcomes, directed by Robert C. Green, MD, MPH, is crea...
      Speaker: Robert C. Green, MD, MPH
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      MAY 11, 2016 | 7:30 AM
      Keynote: Genomes for Medicine
      Keynote: Genomes for Medicine
      Advances in DNA sequencing technology are about to transform healthcare.    Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold im...
      Speaker: David Bentley, DPhil, FMedSci
      Presented at: Genetics and Genomics Virtual Event Series 2016
      5
      MAY 11, 2016 | 6:00 AM
      Natural Human Gene Knockouts and the Discovery of New Drug Targets
      Natural Human Gene Knockouts and the Discovery of New Drug Targets
      It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
      Speaker: Frederick Dewey, MD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      4
      MAY 10, 2016 | 8:00 AM
      The art of war, unleashing the immune system to fight cancer
      The art of war, unleashing the immune system to fight cancer
      DATE: May 10th, 2016 TIME:  8:00am Pacific time, 11:00am Eastern time Cancer is a complex, multifactorial disease that not only is a cause of major human suffering throughout history...
      Speaker: John Connolly, PhD
      Sponsored By: eBioscience, an Affymetrix business, eBioscience, an Affymetrix business
      18 2
      APR 14, 2016 | 9:00 AM
      Primary Hyperaldosteronism: From A to Z
      Primary Hyperaldosteronism: From A to Z
      9:00AM PT, 11:00AM CT, 12:00PM ETThe prevalence of primary hyperaldosteronism among general and resistant hypertensive populations ranges from 5-20%.  It is considered a secondary fo...
      Speaker: Jonathan Williams, MD, MMSc
      Presented at: Discover More; Your Virtual Resource
      Sponsored By: Diasorin
      13 2
      APR 11, 2016 | 9:00 AM
      WEBINAR: The epigenome in normal human placental development and its dysregulation in preeclampsia
      WEBINAR: The epigenome in normal human placental development and...
      9:00 AM PT, 11:00 AM CT, 12:00 PM ET Epigenetics defines the set of distinct and heritable molecular mechanisms able to influence gene expression without altering the primary genetic seque...
      Speaker: Peter Jones, Ph.D., D.Sc. , Nandor Than, MD, PhD
      Sponsored By: Zymo Research, Zymo Research
      10 4
    SEP 07, 2016 | 1:30 PM
    Biofilm Diversity and Ecology
    Biofilm Diversity and Ecology
    It is well accepted that microorganisms can exist as self-organized communities attached to surfaces and one another (i.e., biofilm), often surrounded by extracellular polymeric substances (E...
    Speaker: Matthew Fields, CBE
    Presented at: Microbiology & Immunology Virtual Event Series 2016
    2
    SEP 07, 2016 | 7:30 AM
    Keynote Speaker: Challenges towards a Universal Influenza Virus Vaccine
    Keynote Speaker: Challenges towards a Universal Influenza Virus...
    Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality.  The present modalities and va...
    Speaker: Peter Palese, PhD
    Presented at: Microbiology & Immunology Virtual Event Series 2016
    3
    AUG 30, 2016 | 8:00 AM
    Disease modeling in pluripotent stem cell-derived cardiomyocytes
    Disease modeling in pluripotent stem cell-derived cardiomyocytes
    Over the last 15 years, human pluripotent stem cell (hPSC) technologies have progressed from academic curiosities into tools with the promise to underpin commerce, leading to real progress in...
    Speaker: Chris Denning, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    2
    AUG 30, 2016 | 8:00 AM
    Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
    Human PSC-based disease modeling to study X-linked Dystonia-Parkinsonism
    The isolation of human embryonic stem cells (hESCs) and the discovery of human induced pluripotent stem cell (hiPSC) reprogramming have sparked a renaissance in stem cell biology, in vitro di...
    Speaker: William Hendriks
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    1
    AUG 30, 2016 | 8:00 AM
    Use of Stem Cell models to assess Genetic Change Underlying Neurodevelopmental Disorders
    Use of Stem Cell models to assess Genetic Change Underlying Neurodevelopmental...
    The study of human genetic neurodevelopmental disorders (NDDs) is complicated by the inaccessibility of the relevant tissue for study: it is extremely rare to obtain post-surgical brain sampl...
    Speaker: Lachlan Jolly, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    1
     
     
  • AUG 30, 2016 | 8:00 AM
    Building embryonic lineages
    Building embryonic lineages
    The human body is composed of about 200 different cell types. The identity and function of these distinct cell types are precisely programmed by the regulatory networks encoded in the 3 billi...
    Speaker: Leo Kurian, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    1
    AUG 30, 2016 | 8:00 AM
    Delivery solutions for robust CRISPR-based genomic editing in stem cells for disease model generation
    Delivery solutions for robust CRISPR-based genomic editing in...
    Stem cells, specifically induced pluripotent stem cells (iPSCs), offer exciting potential for the future of cell therapy and regenerative medicine. More recently, genetic engineering of stem ...
    Speaker: Nektaria Andronikou
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    Sponsored By: Thermo Fisher Scientific, Thermo Fisher Scientific
    0
    AUG 30, 2016 | 8:00 AM
    Improved differentiation of human pluripotent stem cell-derived neurons through reduction of progenitor proliferation: impact on downstream applications
    Improved differentiation of human pluripotent stem cell-derived...
    Neurons derived from human pluripotent stem cells (hPSCs), including embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs), are excellent resources for disease modeling and d...
    Speaker: David Kuninger, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    Sponsored By: Thermo Fisher Scientific, Thermo Fisher Scientific
    1
    AUG 24, 2016 | 8:00 AM
    Beyond Bone: Emerging Applications in Preclinical microCT Imaging
    Beyond Bone: Emerging Applications in Preclinical microCT Imaging
    DATE: August 24th 2016TIME:  8:00AM PST, 11:00AM ESTPreclinical micro-computed tomography (microCT) imaging systems are utilized across a wide range of applications requiring imagi...
    Speaker: Gael Rochefort, PhD , Chris Damoci
    Sponsored By: Revvity
    32
    JUN 22, 2016 | 8:00 AM
    Applications of targeted NGS panels for clinical research of primary immunodeficiency diseases
    Applications of targeted NGS panels for clinical research of primary...
    Primary immunodeficiencies (PIDs) are a group of more than 250 genetic disorders that disrupt the immune system, resulting in susceptibility to life-threatening infections, autoimmune disease...
    Speaker: Janet Chou, MD , Wayne Bainter
    Sponsored By: Thermo Fisher Scientific - Ion Torrent, Thermo Fisher Scientific - Ion Torrent
    4
     
     
  • MAY 17, 2016 | 7:00 AM
    Involvement of Biologists in data analysis requires visualization
    Involvement of Biologists in data analysis requires visualization
    DATE: May 17, 2016 TIME: 7am Pacific time, 10am Eastern time, 4pm Swedish time Data generation is becoming easier and easier and many organizations have matured in their data storage and ...
    Speaker: Carl-Johan Ivarsson, MSc , Thoas Fioretos, MD, PhD
    Sponsored By: Qlucore, Qlucore
    5 1
    MAY 12, 2016 | 3:00 PM
    Using big data to interpret genomes for diagnostics, therapeutics, and precision medicine
    Using big data to interpret genomes for diagnostics, therapeutics,...
    Millions of individuals have been sequenced or genotyped and linked with medical records, providing an exciting opportunity for therapeutic target discovery. My lab has been using a resilienc...
    Speaker: Rong Chen, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 12, 2016 | 12:00 PM
    Implementation of genomic assays for tumor genome profiling in a clinical laboratory setting
    Implementation of genomic assays for tumor genome profiling in...
    In order to realize the benefits of personalized cancer therapy, increasing demands are placed upon clinical laboratories to provide timely, comprehensive, clinically actionable, and analytic...
    Speaker: Sarah Murray, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 12, 2016 | 12:00 PM
    Learning Biology from Networks and their Structure
    Learning Biology from Networks and their Structure
    Network models are an invaluable tool for integrating multiple data types and for modeling interactions between biological elements. One common question that arises, however, is what to do wi...
    Speaker: John Platig, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 12, 2016 | 7:30 AM
    Polymorphic miRNA binding sites in the WFS1 gene are risk factors of diabetes mellitus
    Polymorphic miRNA binding sites in the WFS1 gene are risk factors...
         Wolframin is a major protein of the endoplasmic reticulum, it is expressed in most tissues and clinical data demonstrate its significant connection to diabetes mellitus. L...
    Speaker: Zsolt Rónai, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    5
     
     
  • MAY 12, 2016 | 6:00 AM
    The sequencing of 10,000 Human Genomes
    The sequencing of 10,000 Human Genomes
    Technological advances allow for the large scale sequencing of the whole human genome. Most studies have generated population-based information on human diversity using low to intermediate co...
    Speaker: Amalio Telenti MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 11, 2016 | 1:30 PM
    C.E. CREDITS
    Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor Composition
    Microfluidic Single Cell Exome-seq and RNA-seq analysis of Tumor...
    Human breast tumors have been shown to exhibit extensive inter- and intra-tumor heterogeneity. While recent advances in genomic technologies have allowed us to deconvolute this heterogeneity,...
    Speaker: Ioannis (Jiannis) Ragoussis, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    3
    MAY 11, 2016 | 12:00 PM
    C.E. CREDITS
    Implementing Longitudinal Clinical/Whole Genome Research
    Implementing Longitudinal Clinical/Whole Genome Research
    Technological advances have made genomic sequencing more affordable, efficient, and available. Questions related to the implementation and effects of large-scale sequencing in healthcare have...
    Speaker: Benjamin Solomon, MD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    3
    MAY 11, 2016 | 9:00 AM
    Keynote: Empirical Data on the Path to Genomic Medicine
    Keynote: Empirical Data on the Path to Genomic Medicine
    In this time of incredible promise for genomic medicine, the Genomes2People (G2P) Research Program in Translational Genomics and Health Outcomes, directed by Robert C. Green, MD, MPH, is crea...
    Speaker: Robert C. Green, MD, MPH
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    MAY 11, 2016 | 7:30 AM
    Keynote: Genomes for Medicine
    Keynote: Genomes for Medicine
    Advances in DNA sequencing technology are about to transform healthcare.    Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold im...
    Speaker: David Bentley, DPhil, FMedSci
    Presented at: Genetics and Genomics Virtual Event Series 2016
    5
     
     
  • MAY 11, 2016 | 6:00 AM
    Natural Human Gene Knockouts and the Discovery of New Drug Targets
    Natural Human Gene Knockouts and the Discovery of New Drug Targets
    It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
    Speaker: Frederick Dewey, MD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    4
    MAY 10, 2016 | 8:00 AM
    The art of war, unleashing the immune system to fight cancer
    The art of war, unleashing the immune system to fight cancer
    DATE: May 10th, 2016 TIME:  8:00am Pacific time, 11:00am Eastern time Cancer is a complex, multifactorial disease that not only is a cause of major human suffering throughout history...
    Speaker: John Connolly, PhD
    Sponsored By: eBioscience, an Affymetrix business, eBioscience, an Affymetrix business
    18 2
    APR 14, 2016 | 9:00 AM
    Primary Hyperaldosteronism: From A to Z
    Primary Hyperaldosteronism: From A to Z
    9:00AM PT, 11:00AM CT, 12:00PM ETThe prevalence of primary hyperaldosteronism among general and resistant hypertensive populations ranges from 5-20%.  It is considered a secondary fo...
    Speaker: Jonathan Williams, MD, MMSc
    Presented at: Discover More; Your Virtual Resource
    Sponsored By: Diasorin
    13 2
    APR 11, 2016 | 9:00 AM
    WEBINAR: The epigenome in normal human placental development and its dysregulation in preeclampsia
    WEBINAR: The epigenome in normal human placental development and...
    9:00 AM PT, 11:00 AM CT, 12:00 PM ET Epigenetics defines the set of distinct and heritable molecular mechanisms able to influence gene expression without altering the primary genetic seque...
    Speaker: Peter Jones, Ph.D., D.Sc. , Nandor Than, MD, PhD
    Sponsored By: Zymo Research, Zymo Research
    10 4
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