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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

    • AUG 21, 2013 | 3:00 PM
      Discovery, Development, and Clinical Validation of Gene Expression Scores for Transplant Rejection and Coronary Artery Disease
      Discovery, Development, and Clinical Validation of Gene Expression...
      Introduction Although the focus of the genomics community has largely been on DNA polymorphisms which affect disease risk, gene expression, especially of blood cells, has the potential to ref...
      Speaker: Steven Rosenberg, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      85
      AUG 21, 2013 | 3:00 PM
      C.E. CREDITS
      Investigating tissue specificity of cancer-causing germline mutations
      Investigating tissue specificity of cancer-causing germline mutations
      The remarkable diversity we see between different cell types in the human body is governed by the specificity attained through transcriptional and epigenetic regulatory programs. Cancer is a...
      Speaker: Jessica C. Mar, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      70
      AUG 21, 2013 | 2:00 PM
      C.E. CREDITS
      The role of protective genes in the exceptional longevity of humans
      The role of protective genes in the exceptional longevity of humans
      Aging is the major risk for diseases such as cancer, AD, type 2 Diabetes mellitus and cardiovascular disease. We hypothesize that a progress in preventing these diseases will occur only if we...
      Speaker: Nir Barzilai, MD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      38
      AUG 21, 2013 | 2:00 PM
      Claritas Genomics: The Future of Pediatric Diagnostics is Now
      Claritas Genomics: The Future of Pediatric Diagnostics is Now
      Increasingly genome sequence knowledge is unraveling the complexity of rare Mendelian disorders offering hope for our children's medical care through better disease diagnosis and ultimately p...
      Speaker: Patrice Milos, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      96
      AUG 21, 2013 | 12:00 PM
      C.E. CREDITS
      Genetics of Coronary Artery Disease
      Genetics of Coronary Artery Disease
      Susceptibility to coronary artery disease (CAD) is claimed to be 40% to 60% inherited, but until recently genetic risk factors predisposing to CAD have been elusive. Comprehensive prevention...
      Speaker: Robert Roberts, MD, FRCPC, MACC, LLD (Hon.)
      Presented at: Genetics and Genomics Virtual Event Series 2013
      36
      AUG 21, 2013 | 10:00 AM
      C.E. CREDITS
      Integration of Genomics into Medical Practice: Educational Challenges
      Integration of Genomics into Medical Practice: Educational Challenges
      Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...
      Speaker: Bruce R. Korf, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      80
      AUG 21, 2013 | 10:00 AM
      C.E. CREDITS
      Azole resistance in Aspergillus fumigatus - clinical isolate screening, culture selection, and genetics
      Azole resistance in Aspergillus fumigatus - clinical isolate screening,...
      In the United States, invasive aspergillosis (IA), an invasive fungal infection of the upper respiratory tract of immune compromised patients, is usually caused by Aspergilus fumigatus, while...
      Speaker: William C Nierman, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      67
      AUG 21, 2013 | 9:00 AM
      Adventures in Personal Genomics and Whole Omics Profiling
      Adventures in Personal Genomics and Whole Omics Profiling
      Personalized medicine is expected to benefit from the combination of genomic information with the global monitoring of molecular components and physiological states. To ascertain whether this...
      Speaker: Michael Snyder, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      3466
      AUG 21, 2013 | 8:00 AM
      C.E. CREDITS
      Implementation of genome sequencing in a clinical diagnostic laboratory
      Implementation of genome sequencing in a clinical diagnostic laboratory
      With the technical costs of genome sequencing continuously dropping, it is now feasible to offer this assay in a clinical context. Empirical evidence suggests that genome and exome sequencing...
      Speaker: Matthew Lebo, PhD, FACMG
      Presented at: Genetics and Genomics Virtual Event Series 2013
      79
      AUG 21, 2013 | 8:00 AM
      Post Genome-Wide Association Studies
      Post Genome-Wide Association Studies
      In this presentation I describe some of the approaches we are taking to identify the genetic architecture of common complex cancers with a particular focus on the etiology of lung cancer. Can...
      Speaker: Christopher I Amos, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      105
      AUG 21, 2013 | 7:00 AM
      Improving the Accuracy of Genome Sequencing and Interpretation
      Improving the Accuracy of Genome Sequencing and Interpretation
      Our ability to view and alter biology is progressing at an exponential pace -- faster even than electronics. Next generation sequencing can be used to assess inherited, environmental and epi-...
      Speaker: George Church, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      46
      AUG 21, 2013 | 6:00 AM
      What to use for targeted re-sequencing - microarrays or NGS?
      What to use for targeted re-sequencing - microarrays or NGS?
      Genetic testing is becoming a widespread practice and with human genome fully sequenced we want to develop best methods to do it. Single gene or single mutation screening is pretty much becom...
      Speaker: Agnieszka Lichanska, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      55
      MAY 30, 2013 | 9:00 AM
      Molecular Prognosis in the Management of Early Stage Lung Cancer
      Molecular Prognosis in the Management of Early Stage Lung Cancer
      Survival rates for early stage non-small cell lung cancer (NSCLC) remain unacceptably low compared to other common solid tumors. This mortality reflects a weakness in conventional staging, as...
      Speaker: Michael J Mann, MD
      Presented at: Clinical Diagnostics Virtual Event Series 2013
      19
      MAY 10, 2013 | 9:00 AM
      Renin: Clinical Utility of Renin Measurement in Hypertension
      Renin: Clinical Utility of Renin Measurement in Hypertension
       Measurement of renin and its activity is increasingly used in the evaluation of circulatory function. This is primarily driven by a higher than previously realized prevalence of primary hype...
      Speaker: Jonathan Williams, MD, MMSc
      Sponsored By: DiaSorin no, Diasorin
      49
      SEP 13, 2012 | 12:00 PM
      C.E. CREDITS
      Consumer Response to Direct-to-Consumer Personal Genomic Testing
      Consumer Response to Direct-to-Consumer Personal Genomic Testing
       Direct-to-Consumer (DTC) genome-wide disease risk profiling is currently available to individuals and provides information about one's genetic risk for a range of common polygenic diseases. ...
      Speaker: Cinnamon S Bloss, PhD
      Sponsored By: Thermo Fisher Scientific, Thermo Fisher Scientific
      23
      SEP 12, 2012 | 9:00 AM
      C.E. CREDITS
      Technology & Open Access Human Genome, Environment & Trait data
      Technology & Open Access Human Genome, Environment & Trait data
       The Project (PersonalGenomes.org) enables open observation and critique of a large cohort "test-driving" comprehensive participatory personalized medicine. This is the only fully open-access...
      Speaker: George Church, PhD
      Sponsored By: Thermo Fisher Scientific, Thermo Fisher Scientific
      45
    AUG 21, 2013 | 3:00 PM
    Discovery, Development, and Clinical Validation of Gene Expression Scores for Transplant Rejection and Coronary Artery Disease
    Discovery, Development, and Clinical Validation of Gene Expression...
    Introduction Although the focus of the genomics community has largely been on DNA polymorphisms which affect disease risk, gene expression, especially of blood cells, has the potential to ref...
    Speaker: Steven Rosenberg, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    85
    AUG 21, 2013 | 3:00 PM
    C.E. CREDITS
    Investigating tissue specificity of cancer-causing germline mutations
    Investigating tissue specificity of cancer-causing germline mutations
    The remarkable diversity we see between different cell types in the human body is governed by the specificity attained through transcriptional and epigenetic regulatory programs. Cancer is a...
    Speaker: Jessica C. Mar, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    70
    AUG 21, 2013 | 2:00 PM
    C.E. CREDITS
    The role of protective genes in the exceptional longevity of humans
    The role of protective genes in the exceptional longevity of humans
    Aging is the major risk for diseases such as cancer, AD, type 2 Diabetes mellitus and cardiovascular disease. We hypothesize that a progress in preventing these diseases will occur only if we...
    Speaker: Nir Barzilai, MD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    38
    AUG 21, 2013 | 2:00 PM
    Claritas Genomics: The Future of Pediatric Diagnostics is Now
    Claritas Genomics: The Future of Pediatric Diagnostics is Now
    Increasingly genome sequence knowledge is unraveling the complexity of rare Mendelian disorders offering hope for our children's medical care through better disease diagnosis and ultimately p...
    Speaker: Patrice Milos, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    96
    AUG 21, 2013 | 12:00 PM
    C.E. CREDITS
    Genetics of Coronary Artery Disease
    Genetics of Coronary Artery Disease
    Susceptibility to coronary artery disease (CAD) is claimed to be 40% to 60% inherited, but until recently genetic risk factors predisposing to CAD have been elusive. Comprehensive prevention...
    Speaker: Robert Roberts, MD, FRCPC, MACC, LLD (Hon.)
    Presented at: Genetics and Genomics Virtual Event Series 2013
    36
     
     
  • AUG 21, 2013 | 10:00 AM
    C.E. CREDITS
    Integration of Genomics into Medical Practice: Educational Challenges
    Integration of Genomics into Medical Practice: Educational Challenges
    Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...
    Speaker: Bruce R. Korf, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    80
    AUG 21, 2013 | 10:00 AM
    C.E. CREDITS
    Azole resistance in Aspergillus fumigatus - clinical isolate screening, culture selection, and genetics
    Azole resistance in Aspergillus fumigatus - clinical isolate screening,...
    In the United States, invasive aspergillosis (IA), an invasive fungal infection of the upper respiratory tract of immune compromised patients, is usually caused by Aspergilus fumigatus, while...
    Speaker: William C Nierman, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    67
    AUG 21, 2013 | 9:00 AM
    Adventures in Personal Genomics and Whole Omics Profiling
    Adventures in Personal Genomics and Whole Omics Profiling
    Personalized medicine is expected to benefit from the combination of genomic information with the global monitoring of molecular components and physiological states. To ascertain whether this...
    Speaker: Michael Snyder, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    3466
    AUG 21, 2013 | 8:00 AM
    C.E. CREDITS
    Implementation of genome sequencing in a clinical diagnostic laboratory
    Implementation of genome sequencing in a clinical diagnostic laboratory
    With the technical costs of genome sequencing continuously dropping, it is now feasible to offer this assay in a clinical context. Empirical evidence suggests that genome and exome sequencing...
    Speaker: Matthew Lebo, PhD, FACMG
    Presented at: Genetics and Genomics Virtual Event Series 2013
    79
    AUG 21, 2013 | 8:00 AM
    Post Genome-Wide Association Studies
    Post Genome-Wide Association Studies
    In this presentation I describe some of the approaches we are taking to identify the genetic architecture of common complex cancers with a particular focus on the etiology of lung cancer. Can...
    Speaker: Christopher I Amos, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    105
     
     
  • AUG 21, 2013 | 7:00 AM
    Improving the Accuracy of Genome Sequencing and Interpretation
    Improving the Accuracy of Genome Sequencing and Interpretation
    Our ability to view and alter biology is progressing at an exponential pace -- faster even than electronics. Next generation sequencing can be used to assess inherited, environmental and epi-...
    Speaker: George Church, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    46
    AUG 21, 2013 | 6:00 AM
    What to use for targeted re-sequencing - microarrays or NGS?
    What to use for targeted re-sequencing - microarrays or NGS?
    Genetic testing is becoming a widespread practice and with human genome fully sequenced we want to develop best methods to do it. Single gene or single mutation screening is pretty much becom...
    Speaker: Agnieszka Lichanska, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    55
    MAY 30, 2013 | 9:00 AM
    Molecular Prognosis in the Management of Early Stage Lung Cancer
    Molecular Prognosis in the Management of Early Stage Lung Cancer
    Survival rates for early stage non-small cell lung cancer (NSCLC) remain unacceptably low compared to other common solid tumors. This mortality reflects a weakness in conventional staging, as...
    Speaker: Michael J Mann, MD
    Presented at: Clinical Diagnostics Virtual Event Series 2013
    19
    MAY 10, 2013 | 9:00 AM
    Renin: Clinical Utility of Renin Measurement in Hypertension
    Renin: Clinical Utility of Renin Measurement in Hypertension
     Measurement of renin and its activity is increasingly used in the evaluation of circulatory function. This is primarily driven by a higher than previously realized prevalence of primary hype...
    Speaker: Jonathan Williams, MD, MMSc
    Sponsored By: DiaSorin no, Diasorin
    49
    SEP 13, 2012 | 12:00 PM
    C.E. CREDITS
    Consumer Response to Direct-to-Consumer Personal Genomic Testing
    Consumer Response to Direct-to-Consumer Personal Genomic Testing
     Direct-to-Consumer (DTC) genome-wide disease risk profiling is currently available to individuals and provides information about one's genetic risk for a range of common polygenic diseases. ...
    Speaker: Cinnamon S Bloss, PhD
    Sponsored By: Thermo Fisher Scientific, Thermo Fisher Scientific
    23
     
     
  • SEP 12, 2012 | 9:00 AM
    C.E. CREDITS
    Technology & Open Access Human Genome, Environment & Trait data
    Technology & Open Access Human Genome, Environment & Trait data
     The Project (PersonalGenomes.org) enables open observation and critique of a large cohort "test-driving" comprehensive participatory personalized medicine. This is the only fully open-access...
    Speaker: George Church, PhD
    Sponsored By: Thermo Fisher Scientific, Thermo Fisher Scientific
    45
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