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    Human Genetics

    Human Genetics: is the study of inheritance as it exist in human beings. This field encompasses a variety of overlapping grounds including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, clinical genetics, population genetics, developmental genetics, and genetic counseling.

    Webinars

    • OCT 30, 2014 | 1:30 PM
      Structural Pathways of Cancer
      Structural Pathways of Cancer
      Structural pathways are important. They are essential to the understanding of how oncogenic mutations work and to figuring out alternative parallel pathways in drug resistant mutants. Structu...
      Speaker: Ruth Nussinov, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      16
      OCT 30, 2014 | 10:30 AM
      Development of molecularly targeted imaging agents and identification of novel targets in cancer
      Development of molecularly targeted imaging agents and identification...
      The era of omics has ushered in the hope for personalized medicine. Proteomic and genomic strategies that allow unbiased identification of genes and proteins and their post-transcriptional a...
      Speaker: Kimberly Kelly , PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      16
      OCT 30, 2014 | 10:30 AM
      Genomics in the Clinic: Promises and Challenges
      Genomics in the Clinic: Promises and Challenges
      Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. N...
      Speaker: John Carpten, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      12
      OCT 29, 2014 | 3:00 PM
      Transforming the future of oncology with genomics
      Transforming the future of oncology with genomics
      Illumina next-generation sequencing (NGS) and microarray technologies are revolutionizing cancer research, enabling cancer variant discovery and detection and molecular monitoring. Join u...
      Speaker: Jennifer Stone, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      13
      OCT 29, 2014 | 3:00 PM
      Drug-tailored, efficacy-predictive and prognostic biomarker approaches for proper patient selection
      Drug-tailored, efficacy-predictive and prognostic biomarker approaches...
      Over the last decade we have witnessed tremendous advances in our understanding of the underlying molecular alterations in human cancer. This has stimulated excitement for our ability to deve...
      Speaker: Peter Blume-Jensen, MD, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      0
      OCT 29, 2014 | 12:00 PM
      Obesity, weight loss, and the microenvironment in basal-like breast cancer
      Obesity, weight loss, and the microenvironment in basal-like breast...
      Obesity is associated with an aggressive subtype of breast cancer called basal-like breast cancer (BBC). Using C3(1)-TAg mice, a genetically engineered mouse model that resembles human BBC, w...
      Speaker: Liza Makowski, PhD
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      12
      OCT 29, 2014 | 10:30 AM
      Learning from the Pointillists - Using Big Data Approaches to Embrace the Complexity of Cancer
      Learning from the Pointillists - Using Big Data Approaches to...
      The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and preventi...
      Speaker: Kenneth Buetow, PhD, FACMI
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
      14
      OCT 01, 2014 | 8:00 AM
      Leveraging the plant genome to increase crop yield and quality
      Leveraging the plant genome to increase crop yield and quality
      Opportunities for plant science to contribute to global food security include increasing the yield and quality of crops, making plants less susceptible to pests and and more resistant to her...
      Speaker: Gawain Bennett, Philippe Roby, Dwarkesh Parihar
      Revvity
      14
      SEP 24, 2014 | 8:00 AM
      Approaches to antibacterial discovery:  New strategies and technologies to address a challenging field
      Approaches to antibacterial discovery: New strategies and technologies...
      Antibiotics are among the most important advances in the history of modern medicine. They turned often acutely fatal infections into treatable indications with radical cures. Antibiotics co...
      Speaker: Jennifer Leeds, PhD
      Presented at: Advances in Drug Discovery and Development
      22
      AUG 21, 2014 | 12:45 PM
      Predictive and not: understanding the mixed messages of our DNA
      Predictive and not: understanding the mixed messages of our DNA
      When whole genome and whole exome sequencing are introduced into health care, and offered directly to consumers in commercial settings, the landscape of genetic testing will drastically chang...
      Speaker: Cecile Janssens, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      36
      AUG 21, 2014 | 11:30 AM
      Understanding the Genetics of Common Disease:  Using Big Data approaches to see the emergent whole
      Understanding the Genetics of Common Disease: Using Big Data...
      The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and preventi...
      Speaker: Kenneth Buetow, PhD, FACMI
      Presented at: Genetics and Genomics Virtual Event Series 2014
      198
      AUG 21, 2014 | 11:15 AM
      Keynote: Integration of Genetics and Genomics into Medical Practice: Educational Challenges
      Keynote: Integration of Genetics and Genomics into Medical Practice:...
      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 2014
      76
      AUG 21, 2014 | 10:45 AM
      The Role of Genetic Counselors in the Implementation of Personalized Genomic Medicine
      The Role of Genetic Counselors in the Implementation of Personalized...
      For personalized genomic medicine (PGM) to be readily adopted into clinical practice, there is a need for a multidisciplinary team, and a need to educate health care professionals and the...
      Speaker: Colleen Campbell, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      128
      AUG 21, 2014 | 9:45 AM
      Pathway based analyses for genetic susceptibility to cancer and autoimmune disease
      Pathway based analyses for genetic susceptibility to cancer and...
      In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimm...
      Speaker: Christopher I Amos, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      62
      AUG 21, 2014 | 8:45 AM
      Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical Findings
      Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical...
      Whole genomic and exomics sequencing applied clinically is revealing newly discovered genes and syndromes at an astonishing rate. While clinical databases and variant annotation continue to g...
      Speaker: Jimmy Lin, MD, PhD, MHS
      Presented at: Genetics and Genomics Virtual Event Series 2014
      122
      AUG 21, 2014 | 8:45 AM
      From Genetics to Genetic Medicine: Gene Therapy for vision restoration as a case study
      From Genetics to Genetic Medicine: Gene Therapy for vision restoration...
      Gene therapy for two forms of inherited retinal degeneration have met promising safety and efficacy endpoints in early stage clinical trials. These approaches made use of a replication defect...
      Speaker: Luk H Vandenberghe, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      0
      AUG 21, 2014 | 6:45 AM
      Practical Considerations for the Clinical Interpretation of Germline Sequence Variants in the Era of NGS
      Practical Considerations for the Clinical Interpretation of Germline...
      The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be int...
      Speaker: Heather McLaughlin, PhD, MB(ASCP)CM
      Presented at: Genetics and Genomics Virtual Event Series 2014
      68
      AUG 20, 2014 | 2:15 PM
      Identifying transcriptional regulators of human embryonic development via expression variability
      Identifying transcriptional regulators of human embryonic development...
      Understanding how genes coordinate their expression across cells in a growing embryo can provide insights into the transcriptional programs that control development. Intercellular variability...
      Speaker: Jessica C. Mar, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      12
      AUG 20, 2014 | 12:30 PM
      Integrative Systems Approaches to Network Modeling of Biological Processes
      Integrative Systems Approaches to Network Modeling of Biological...
      ...
      Speaker: John Quackenbush, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      44
      AUG 20, 2014 | 11:45 AM
      Ethical, Legal and Social Issues of Direct-to-Consumer Genetic Testing
      Ethical, Legal and Social Issues of Direct-to-Consumer Genetic...
      Direct-to-consumer (DTC) genetic testing can be understood as including two related aspects: first, the advertising of genetic tests directly to consumers; and second, the direct access or or...
      Speaker: Heidi C Howard, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      25
      AUG 20, 2014 | 11:30 AM
      More Comprehensive Views of Human Genetic Variation
      More Comprehensive Views of Human Genetic Variation
      High-throughput short-read DNA sequencing has revolutionized our ability to measure genetic variation in the form of single-nucleotide polymorphisms (SNPs) in human genomes. However, ~75% of...
      Speaker: Jonas Korlach, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      8
      AUG 20, 2014 | 10:45 AM
      OncoScan Assay for copy number from FFPE. Publications & cases on actionable CNV detection
      OncoScan Assay for copy number from FFPE. Publications & cases...
      A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tu...
      Speaker: Padma Sundar, MBA, MPH
      Presented at: Genetics and Genomics Virtual Event Series 2014
      14
      AUG 20, 2014 | 10:30 AM
      One Platform. Many Analyses
      One Platform. Many Analyses
      Genome and exome sequencing are widely used for both basic and clinical research and diagnosis. Although sequencing costs have dropped dramatically and technology and algorithms used for call...
      Speaker: Sohela Shah, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      8
      AUG 20, 2014 | 8:45 AM
      Digitizing Life Using Synthetic Genomics
      Digitizing Life Using Synthetic Genomics
      In 2010, our team of synthetic biologists announced the creation of a bacterial cell that had a chemically synthesized genome. To build this synthetic Mycoplasma mycoides JCVI 1.0 we had to d...
      Speaker: John Glass, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2014
      135
    OCT 30, 2014 | 1:30 PM
    Structural Pathways of Cancer
    Structural Pathways of Cancer
    Structural pathways are important. They are essential to the understanding of how oncogenic mutations work and to figuring out alternative parallel pathways in drug resistant mutants. Structu...
    Speaker: Ruth Nussinov, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    16
    OCT 30, 2014 | 10:30 AM
    Development of molecularly targeted imaging agents and identification of novel targets in cancer
    Development of molecularly targeted imaging agents and identification...
    The era of omics has ushered in the hope for personalized medicine. Proteomic and genomic strategies that allow unbiased identification of genes and proteins and their post-transcriptional a...
    Speaker: Kimberly Kelly , PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    16
    OCT 30, 2014 | 10:30 AM
    Genomics in the Clinic: Promises and Challenges
    Genomics in the Clinic: Promises and Challenges
    Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. N...
    Speaker: John Carpten, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    12
    OCT 29, 2014 | 3:00 PM
    Transforming the future of oncology with genomics
    Transforming the future of oncology with genomics
    Illumina next-generation sequencing (NGS) and microarray technologies are revolutionizing cancer research, enabling cancer variant discovery and detection and molecular monitoring. Join u...
    Speaker: Jennifer Stone, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    13
    OCT 29, 2014 | 3:00 PM
    Drug-tailored, efficacy-predictive and prognostic biomarker approaches for proper patient selection
    Drug-tailored, efficacy-predictive and prognostic biomarker approaches...
    Over the last decade we have witnessed tremendous advances in our understanding of the underlying molecular alterations in human cancer. This has stimulated excitement for our ability to deve...
    Speaker: Peter Blume-Jensen, MD, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    0
     
     
  • OCT 29, 2014 | 12:00 PM
    Obesity, weight loss, and the microenvironment in basal-like breast cancer
    Obesity, weight loss, and the microenvironment in basal-like breast...
    Obesity is associated with an aggressive subtype of breast cancer called basal-like breast cancer (BBC). Using C3(1)-TAg mice, a genetically engineered mouse model that resembles human BBC, w...
    Speaker: Liza Makowski, PhD
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    12
    OCT 29, 2014 | 10:30 AM
    Learning from the Pointillists - Using Big Data Approaches to Embrace the Complexity of Cancer
    Learning from the Pointillists - Using Big Data Approaches to...
    The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and preventi...
    Speaker: Kenneth Buetow, PhD, FACMI
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2014
    14
    OCT 01, 2014 | 8:00 AM
    Leveraging the plant genome to increase crop yield and quality
    Leveraging the plant genome to increase crop yield and quality
    Opportunities for plant science to contribute to global food security include increasing the yield and quality of crops, making plants less susceptible to pests and and more resistant to her...
    Speaker: Gawain Bennett, Philippe Roby, Dwarkesh Parihar
    Revvity
    14
    SEP 24, 2014 | 8:00 AM
    Approaches to antibacterial discovery:  New strategies and technologies to address a challenging field
    Approaches to antibacterial discovery: New strategies and technologies...
    Antibiotics are among the most important advances in the history of modern medicine. They turned often acutely fatal infections into treatable indications with radical cures. Antibiotics co...
    Speaker: Jennifer Leeds, PhD
    Presented at: Advances in Drug Discovery and Development
    22
    AUG 21, 2014 | 12:45 PM
    Predictive and not: understanding the mixed messages of our DNA
    Predictive and not: understanding the mixed messages of our DNA
    When whole genome and whole exome sequencing are introduced into health care, and offered directly to consumers in commercial settings, the landscape of genetic testing will drastically chang...
    Speaker: Cecile Janssens, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    36
     
     
  • AUG 21, 2014 | 11:30 AM
    Understanding the Genetics of Common Disease:  Using Big Data approaches to see the emergent whole
    Understanding the Genetics of Common Disease: Using Big Data...
    The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and preventi...
    Speaker: Kenneth Buetow, PhD, FACMI
    Presented at: Genetics and Genomics Virtual Event Series 2014
    198
    AUG 21, 2014 | 11:15 AM
    Keynote: Integration of Genetics and Genomics into Medical Practice: Educational Challenges
    Keynote: Integration of Genetics and Genomics into Medical Practice:...
    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 2014
    76
    AUG 21, 2014 | 10:45 AM
    The Role of Genetic Counselors in the Implementation of Personalized Genomic Medicine
    The Role of Genetic Counselors in the Implementation of Personalized...
    For personalized genomic medicine (PGM) to be readily adopted into clinical practice, there is a need for a multidisciplinary team, and a need to educate health care professionals and the...
    Speaker: Colleen Campbell, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    128
    AUG 21, 2014 | 9:45 AM
    Pathway based analyses for genetic susceptibility to cancer and autoimmune disease
    Pathway based analyses for genetic susceptibility to cancer and...
    In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimm...
    Speaker: Christopher I Amos, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    62
    AUG 21, 2014 | 8:45 AM
    Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical Findings
    Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical...
    Whole genomic and exomics sequencing applied clinically is revealing newly discovered genes and syndromes at an astonishing rate. While clinical databases and variant annotation continue to g...
    Speaker: Jimmy Lin, MD, PhD, MHS
    Presented at: Genetics and Genomics Virtual Event Series 2014
    122
     
     
  • AUG 21, 2014 | 8:45 AM
    From Genetics to Genetic Medicine: Gene Therapy for vision restoration as a case study
    From Genetics to Genetic Medicine: Gene Therapy for vision restoration...
    Gene therapy for two forms of inherited retinal degeneration have met promising safety and efficacy endpoints in early stage clinical trials. These approaches made use of a replication defect...
    Speaker: Luk H Vandenberghe, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    0
    AUG 21, 2014 | 6:45 AM
    Practical Considerations for the Clinical Interpretation of Germline Sequence Variants in the Era of NGS
    Practical Considerations for the Clinical Interpretation of Germline...
    The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be int...
    Speaker: Heather McLaughlin, PhD, MB(ASCP)CM
    Presented at: Genetics and Genomics Virtual Event Series 2014
    68
    AUG 20, 2014 | 2:15 PM
    Identifying transcriptional regulators of human embryonic development via expression variability
    Identifying transcriptional regulators of human embryonic development...
    Understanding how genes coordinate their expression across cells in a growing embryo can provide insights into the transcriptional programs that control development. Intercellular variability...
    Speaker: Jessica C. Mar, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    12
    AUG 20, 2014 | 12:30 PM
    Integrative Systems Approaches to Network Modeling of Biological Processes
    Integrative Systems Approaches to Network Modeling of Biological...
    ...
    Speaker: John Quackenbush, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    44
    AUG 20, 2014 | 11:45 AM
    Ethical, Legal and Social Issues of Direct-to-Consumer Genetic Testing
    Ethical, Legal and Social Issues of Direct-to-Consumer Genetic...
    Direct-to-consumer (DTC) genetic testing can be understood as including two related aspects: first, the advertising of genetic tests directly to consumers; and second, the direct access or or...
    Speaker: Heidi C Howard, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    25
     
     
  • AUG 20, 2014 | 11:30 AM
    More Comprehensive Views of Human Genetic Variation
    More Comprehensive Views of Human Genetic Variation
    High-throughput short-read DNA sequencing has revolutionized our ability to measure genetic variation in the form of single-nucleotide polymorphisms (SNPs) in human genomes. However, ~75% of...
    Speaker: Jonas Korlach, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    8
    AUG 20, 2014 | 10:45 AM
    OncoScan Assay for copy number from FFPE. Publications & cases on actionable CNV detection
    OncoScan Assay for copy number from FFPE. Publications & cases...
    A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tu...
    Speaker: Padma Sundar, MBA, MPH
    Presented at: Genetics and Genomics Virtual Event Series 2014
    14
    AUG 20, 2014 | 10:30 AM
    One Platform. Many Analyses
    One Platform. Many Analyses
    Genome and exome sequencing are widely used for both basic and clinical research and diagnosis. Although sequencing costs have dropped dramatically and technology and algorithms used for call...
    Speaker: Sohela Shah, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    8
    AUG 20, 2014 | 8:45 AM
    Digitizing Life Using Synthetic Genomics
    Digitizing Life Using Synthetic Genomics
    In 2010, our team of synthetic biologists announced the creation of a bacterial cell that had a chemically synthesized genome. To build this synthetic Mycoplasma mycoides JCVI 1.0 we had to d...
    Speaker: John Glass, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2014
    135
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