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    Disease

    Disease: is a disorder of structure or function in a human, animal, or plant, especially one that produces specific signs or symptoms that is not simply a direct result of physical injury.

    Webinars

    • AUG 22, 2013 | 12:00 PM
      C.E. CREDITS
      Exome Sequencing as a Diagnostic Tool
      Exome Sequencing as a Diagnostic Tool
      It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Se...
      Speaker: Pinar Bayrak-Toydemir, MD, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      66
      AUG 22, 2013 | 12:00 PM
      Use of Whole Genome Sequencing in Clinical Practice
      Use of Whole Genome Sequencing in Clinical Practice
      Howard J. Jacob, Ph.D., Founding Director of the Personalized Medicine Program and Human and Molecular Genetics Center and Professor in Physiology and Pediatrics at the Medical College of W...
      Speaker: Howard J Jacob, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      74
      AUG 22, 2013 | 10:00 AM
      C.E. CREDITS
      Using Prostate Cancer Exome Data to Identify Candidate Genes
      Using Prostate Cancer Exome Data to Identify Candidate Genes
      In this presentation, exome data from individuals with prostate cancer will be aligned against an annotated reference human genome and SNPs will be identified using DNASTARs SeqMan NGen softw...
      Speaker: Matthew Keyser, MS
      Presented at: Genetics and Genomics Virtual Event Series 2013
      60
      AUG 22, 2013 | 9:00 AM
      C.E. CREDITS
      Return of Genome Sequencing Results to Physicians and Patients
      Return of Genome Sequencing Results to Physicians and Patients
      There has been considerable debate in the scientific and clinical communities regarding the return of results from genome sequencing to physicians and patients. Questions surrounding which he...
      Speaker: Cinnamon S Bloss, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      56
      AUG 22, 2013 | 9:00 AM
      C.E. CREDITS
      Management and Analysis of Pre-implantation Genetic Diagnosis Data
      Management and Analysis of Pre-implantation Genetic Diagnosis...
      During IVF procedures pre-implantation genetic diagnosis (PGD) allows for genetic profiling of embryos prior to replacement. Most PGD procedures during IVF are performed to select chromosomal...
      Speaker: Deanne Taylor, MS, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      34
      AUG 22, 2013 | 7:00 AM
      Soluble 14-3-3? -  A Personalised Rheumatoid Arthritis Patient Management Strategy
      Soluble 14-3-3? - A Personalised Rheumatoid Arthritis Patient...
      Rheumatoid Arthritis (RA) is a heterogenous disease that affects 1.5% of the population. Similar to cancer, early detection coupled with an effective treatment strategy can significantly impr...
      Speaker: Anthony Marotta, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      52
      AUG 21, 2013 | 5:00 PM
      Global penetration of genomic-like techniques into fast clinical diagnostics of infective diseases in emergency: applicability and technological bottle-necks?
      Global penetration of genomic-like techniques into fast clinical...
      Dr Ivan Brukner entered into genomic era back in 1989 (ex-Yugoslavia), trying to describe and solve repeating sequence "branching motif problem" in building whole genome sequence. Next 5-10...
      Speaker: Ivan Brukner, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      32
      AUG 21, 2013 | 4:00 PM
      C.E. CREDITS
      Lighting up the dark matter of the genome: Unravelling the roles of noncoding DNA in disease and development
      Lighting up the dark matter of the genome: Unravelling the roles...
      Approximately 98% of the human genome comprises noncoding DNA, the function of which is largely unknown. Intriguingly, more than 85% of single nucleotide polymorphisms identified to be associ...
      Speaker: Marcel Dinger, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      64
      AUG 21, 2013 | 4:00 PM
      C.E. CREDITS
      The hidden layer of RNA regulation in human development
      The hidden layer of RNA regulation in human development
      High throughput transcriptomic analyses have shown that most of the human genome is dynamically transcribed to produce an extraordinary range of overlapping and interlacing intronic, intergen...
      Speaker: John Mattick, PhD,AO, FAA, FRCPA
      Presented at: Genetics and Genomics Virtual Event Series 2013
      132
      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
      Evolution of Alu elements in long non-coding RNA and mRNA
      Evolution of Alu elements in long non-coding RNA and mRNA
      Long non-coding RNAs (lncRNA) are a novel class of RNA molecule that are emerging as important regulators of gene transcription and post-transcriptional events. lncRNAs have been shown to reg...
      Speaker: Daniel Caffrey, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2013
      42
      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
      AUG 15, 2013 | 9:00 AM
      The Role of the Laboratory in Assessing Concerns Over Vitamin D Toxicity
      The Role of the Laboratory in Assessing Concerns Over Vitamin...
      Recent studies show a large prevalence of Vitamin D deficiency and insufficiency in populations of all ages. Concerns about excess supplementation and toxicity have emerged as a result. Th...
      Speaker: Reinhold Vieth, PhD
      Presented at: Discover More; Your Virtual Resource
      Diasorin
      105
      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
    AUG 22, 2013 | 12:00 PM
    C.E. CREDITS
    Exome Sequencing as a Diagnostic Tool
    Exome Sequencing as a Diagnostic Tool
    It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Se...
    Speaker: Pinar Bayrak-Toydemir, MD, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    66
    AUG 22, 2013 | 12:00 PM
    Use of Whole Genome Sequencing in Clinical Practice
    Use of Whole Genome Sequencing in Clinical Practice
    Howard J. Jacob, Ph.D., Founding Director of the Personalized Medicine Program and Human and Molecular Genetics Center and Professor in Physiology and Pediatrics at the Medical College of W...
    Speaker: Howard J Jacob, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    74
    AUG 22, 2013 | 10:00 AM
    C.E. CREDITS
    Using Prostate Cancer Exome Data to Identify Candidate Genes
    Using Prostate Cancer Exome Data to Identify Candidate Genes
    In this presentation, exome data from individuals with prostate cancer will be aligned against an annotated reference human genome and SNPs will be identified using DNASTARs SeqMan NGen softw...
    Speaker: Matthew Keyser, MS
    Presented at: Genetics and Genomics Virtual Event Series 2013
    60
    AUG 22, 2013 | 9:00 AM
    C.E. CREDITS
    Return of Genome Sequencing Results to Physicians and Patients
    Return of Genome Sequencing Results to Physicians and Patients
    There has been considerable debate in the scientific and clinical communities regarding the return of results from genome sequencing to physicians and patients. Questions surrounding which he...
    Speaker: Cinnamon S Bloss, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    56
    AUG 22, 2013 | 9:00 AM
    C.E. CREDITS
    Management and Analysis of Pre-implantation Genetic Diagnosis Data
    Management and Analysis of Pre-implantation Genetic Diagnosis...
    During IVF procedures pre-implantation genetic diagnosis (PGD) allows for genetic profiling of embryos prior to replacement. Most PGD procedures during IVF are performed to select chromosomal...
    Speaker: Deanne Taylor, MS, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    34
     
     
  • AUG 22, 2013 | 7:00 AM
    Soluble 14-3-3? -  A Personalised Rheumatoid Arthritis Patient Management Strategy
    Soluble 14-3-3? - A Personalised Rheumatoid Arthritis Patient...
    Rheumatoid Arthritis (RA) is a heterogenous disease that affects 1.5% of the population. Similar to cancer, early detection coupled with an effective treatment strategy can significantly impr...
    Speaker: Anthony Marotta, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    52
    AUG 21, 2013 | 5:00 PM
    Global penetration of genomic-like techniques into fast clinical diagnostics of infective diseases in emergency: applicability and technological bottle-necks?
    Global penetration of genomic-like techniques into fast clinical...
    Dr Ivan Brukner entered into genomic era back in 1989 (ex-Yugoslavia), trying to describe and solve repeating sequence "branching motif problem" in building whole genome sequence. Next 5-10...
    Speaker: Ivan Brukner, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    32
    AUG 21, 2013 | 4:00 PM
    C.E. CREDITS
    Lighting up the dark matter of the genome: Unravelling the roles of noncoding DNA in disease and development
    Lighting up the dark matter of the genome: Unravelling the roles...
    Approximately 98% of the human genome comprises noncoding DNA, the function of which is largely unknown. Intriguingly, more than 85% of single nucleotide polymorphisms identified to be associ...
    Speaker: Marcel Dinger, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    64
    AUG 21, 2013 | 4:00 PM
    C.E. CREDITS
    The hidden layer of RNA regulation in human development
    The hidden layer of RNA regulation in human development
    High throughput transcriptomic analyses have shown that most of the human genome is dynamically transcribed to produce an extraordinary range of overlapping and interlacing intronic, intergen...
    Speaker: John Mattick, PhD,AO, FAA, FRCPA
    Presented at: Genetics and Genomics Virtual Event Series 2013
    132
    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
    Evolution of Alu elements in long non-coding RNA and mRNA
    Evolution of Alu elements in long non-coding RNA and mRNA
    Long non-coding RNAs (lncRNA) are a novel class of RNA molecule that are emerging as important regulators of gene transcription and post-transcriptional events. lncRNAs have been shown to reg...
    Speaker: Daniel Caffrey, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2013
    42
    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
    AUG 15, 2013 | 9:00 AM
    The Role of the Laboratory in Assessing Concerns Over Vitamin D Toxicity
    The Role of the Laboratory in Assessing Concerns Over Vitamin...
    Recent studies show a large prevalence of Vitamin D deficiency and insufficiency in populations of all ages. Concerns about excess supplementation and toxicity have emerged as a result. Th...
    Speaker: Reinhold Vieth, PhD
    Presented at: Discover More; Your Virtual Resource
    Diasorin
    105
    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
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