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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

    • 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
      MAY 10, 2017 | 12:00 PM
      C.E. CREDITS
      Not all variants are created equal: what went wrong in the prediction of functional effects of exomic variation
      Not all variants are created equal: what went wrong in the prediction...
      Many computational approaches exist for predicting the effects of amino acid substitutions from protein sequence. These are often (incorrectly) used for judging disease predisposition from in...
      Speaker: Yana Bromberg, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      1
      MAY 10, 2017 | 9:00 AM
      C.E. CREDITS
      Keynote Presentation: Using Networks to Understand the Genotype-Phenotype Connection
      Keynote Presentation: Using Networks to Understand the Genotype-Phenotype...
      Genome Wide Association Studies (GWAS) and expression quantitative trait locus (eQTL) analyses have identified genetic associations with a wide range of human phenotypes. However, many of the...
      Speaker: John Quackenbush, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2017
      2
      MAY 09, 2017 | 8:00 AM
      WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges and Opportunities
      WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges...
      DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
      Speaker: Hela Azaiez, PhD
      Sponsored By: Agilent
      11 8
      MAY 01, 2017 | 8:00 AM
      Improved differentiation of stem cell-derived neurons and downstream applications through the reduction of progenitor proliferation with CultureOneâ„¢ Supplement
      Improved differentiation of stem cell-derived neurons and downstream...
      Neurons derived from human pluripotent stem cells (hPSCs) and primary rodent neurons both are excellent resources for disease modeling and drug screening.  Human PSCs derived neural stem...
      Speaker: David Kuninger, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      1
      APR 19, 2017 | 4:00 AM
      WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards improved testing systems
      WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards...
      DATE: April 20th, 2017TIME: 10:00AM SGT, 11:00AM KST, 12:00PM AEST, 2:00PM NZSTWith increasing breadth and depth of genomics studies across a range of cancers, it is now apparent that t...
      Speaker: Giridharan Periyasamy, PhD
      Sponsored By: Revvity
      8
      APR 13, 2017 | 10:30 AM
      Why Variants Matter: NGS Bioinformatics Simplified for Oncology & Virology
      Why Variants Matter: NGS Bioinformatics Simplified for Oncology...
      Next-generation sequencing is expected to take molecular diagnostics to the next level with the capability to perform deep analysis of genetic information that leads to targeted therapies per...
      Speaker: Condie Carmack, PhD , Ahmed Mahmoud, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2017
      Sponsored By: Vela Diagnostics
      3
      APR 13, 2017 | 9:00 AM
      Keynote Presentation - DNA Standards and Bioinformatics Benchmarks for Metagenomics
      Keynote Presentation - DNA Standards and Bioinformatics Benchmarks...
      Genomics and metagenomics have become ubiquitous research efforts.  Here we will show details of the development of physical, computational, and even space-based standards for metagenomi...
      Speaker: Christopher Mason, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2017
      2
      APR 13, 2017 | 6:00 AM
      The Pandora's box of molecular diagnostics: Genomic analysis of uterine lavage fluid detects early endometrial cancers
      The Pandora's box of molecular diagnostics: Genomic analysis of...
      Endometrial cancer is the most common gynecologic malignancy in the United States and both the incidence and associated mortality are rising. When detected early, endometrial cancer survival...
      Speaker: John Martignetti, MD, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2017
      2
      APR 12, 2017 | 7:30 AM
      Keynote Presentation - Variant interpretation in Molecular Diagnostics: Challenges and Knowledge Gaps
      Keynote Presentation - Variant interpretation in Molecular Diagnostics:...
      As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
      Speaker: Robert Nussbaum MD, FACP, FACMG
      Presented at: Molecular Diagnostics Virtual Event Series 2017
      5
      MAR 21, 2017 | 10:00 AM
      WEBINAR: Application of combined RNA in situ hybridization and multiplex immunohistochemistry to unravel tumor heterogeneity in prostate cancer
      WEBINAR: Application of combined RNA in situ hybridization and...
      DATE: March 21, 2017TIME: 10:00am PT, 1:00pm ETSponsored By:      Prostate cancer is a complex disease with multiple tumors originating independent...
      Speaker: Nallasivam Palanisamy, PhD , Courtney Anderson, PhD
      Sponsored By: Novus Biologicals a Bio-Techne Brand
      20 9
      MAR 16, 2017 | 1:30 PM
      Humans and fish to study the cellular mechanisms of neuromuscular development
      Humans and fish to study the cellular mechanisms of neuromuscular...
      Studying the genetics of rare congenital disorders disrupting cognitive function has led to the identification of multiple disease genes that helped us better understand the mechanisms underl...
      Speaker: Chiara Manzini, PhD
      Presented at: Neuroscience Virtual Event Series 2017
      1
      MAR 15, 2017 | 6:00 AM
      Prefrontal control of learned fear and avoidance
      Prefrontal control of learned fear and avoidance
      We are nearing three decades of research on the neural circuits of Pavlovian fear conditioning. The advent of new techniques such as genetic and optogenetic manipulations have greatly advance...
      Speaker: Gregory Quirk, PhD
      Presented at: Neuroscience Virtual Event Series 2017
      3
      FEB 23, 2017 | 1:30 PM
      Mining Dense, Dynamic Personal Data Clouds to Enhance Health
      Mining Dense, Dynamic Personal Data Clouds to Enhance Health
      Healthcare is becoming more proactive and data-rich than anything before possible – and will increasingly focus on maintaining and enhancing wellness more than just reacting to disease....
      Speaker: Nathan Price, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      4
      FEB 23, 2017 | 12:00 PM
      Recent progress in cellular medicine with an eye to precision medicine
      Recent progress in cellular medicine with an eye to precision...
      Despite vast investment for decades in cancer research and development, cancer is still among the leading causes of death worldwide and its toll is expected to rise by about 70% over the next...
      Speaker: Giacinto Scoles, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      2
      FEB 23, 2017 | 12:00 PM
      Rapid Learning for Precision Oncology
      Rapid Learning for Precision Oncology
      In this era of precision molecular medicine, knowledge changes rapidly and is highly dispersed.  Physicians and patients are faced with conflicting expert opinions and a shortage of acti...
      Speaker: Marty Tenenbaum, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      3
      FEB 23, 2017 | 12:00 PM
      Novel Precision medicines that exploit Proximity
      Novel Precision medicines that exploit Proximity
      Cell growth and regulation involve vast networks of interacting DNAs, RNAs, proteins, lipids and sugars. Through a fundamental strategy of life, these interactions push multiple cellular proc...
      Speaker: James Prudent, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      3
      FEB 23, 2017 | 10:30 AM
      Clinical Whole Genome Sequencing In a Healthy Population
      Clinical Whole Genome Sequencing In a Healthy Population
      Clinical whole genome sequencing (cWGS) is rapidly gaining acceptance as cost is decreasing and success rates in identifying disease-causing variants are increasing. While the application of...
      Speaker: Erica Ramos, MS, CGC
      Presented at: Precision Medicine Virtual Event Series 2017
      3
      FEB 23, 2017 | 9:00 AM
      Metabolomics and its Role in Precision Medicine
      Metabolomics and its Role in Precision Medicine
      Although there have been enormous advances in gene sequencing, the results give massive amounts of data that only point to disease risk. Major health factors, including diet, lifestyle, envir...
      Speaker: John Ryals, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      4
      FEB 23, 2017 | 7:30 AM
      KEYNOTE: Towards a new era of precision medicine in psychiatry: Using genetic algorithms to optimize medication outcome
      KEYNOTE: Towards a new era of precision medicine in psychiatry:...
      Psychiatric disorders are among the leading causes of disability worldwide. One fifth of the population will suffer from a psychiatric disorder in their lifetime. Antipsychotic and antidepres...
      Speaker: Daniel Mueller, PhD
      Presented at: Precision Medicine Virtual Event Series 2017
      4
    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
     
     
  • MAY 10, 2017 | 12:00 PM
    C.E. CREDITS
    Not all variants are created equal: what went wrong in the prediction of functional effects of exomic variation
    Not all variants are created equal: what went wrong in the prediction...
    Many computational approaches exist for predicting the effects of amino acid substitutions from protein sequence. These are often (incorrectly) used for judging disease predisposition from in...
    Speaker: Yana Bromberg, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    1
    MAY 10, 2017 | 9:00 AM
    C.E. CREDITS
    Keynote Presentation: Using Networks to Understand the Genotype-Phenotype Connection
    Keynote Presentation: Using Networks to Understand the Genotype-Phenotype...
    Genome Wide Association Studies (GWAS) and expression quantitative trait locus (eQTL) analyses have identified genetic associations with a wide range of human phenotypes. However, many of the...
    Speaker: John Quackenbush, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2017
    2
    MAY 09, 2017 | 8:00 AM
    WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges and Opportunities
    WEBINAR: Deafness in the Genomic Era: Discoveries, Challenges...
    DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
    Speaker: Hela Azaiez, PhD
    Sponsored By: Agilent
    11 8
    MAY 01, 2017 | 8:00 AM
    Improved differentiation of stem cell-derived neurons and downstream applications through the reduction of progenitor proliferation with CultureOneâ„¢ Supplement
    Improved differentiation of stem cell-derived neurons and downstream...
    Neurons derived from human pluripotent stem cells (hPSCs) and primary rodent neurons both are excellent resources for disease modeling and drug screening.  Human PSCs derived neural stem...
    Speaker: David Kuninger, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    1
    APR 19, 2017 | 4:00 AM
    WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards improved testing systems
    WEBINAR: Patient Derived Micro Tumor systems: Future Trends towards...
    DATE: April 20th, 2017TIME: 10:00AM SGT, 11:00AM KST, 12:00PM AEST, 2:00PM NZSTWith increasing breadth and depth of genomics studies across a range of cancers, it is now apparent that t...
    Speaker: Giridharan Periyasamy, PhD
    Sponsored By: Revvity
    8
     
     
  • APR 13, 2017 | 10:30 AM
    Why Variants Matter: NGS Bioinformatics Simplified for Oncology & Virology
    Why Variants Matter: NGS Bioinformatics Simplified for Oncology...
    Next-generation sequencing is expected to take molecular diagnostics to the next level with the capability to perform deep analysis of genetic information that leads to targeted therapies per...
    Speaker: Condie Carmack, PhD , Ahmed Mahmoud, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2017
    Sponsored By: Vela Diagnostics
    3
    APR 13, 2017 | 9:00 AM
    Keynote Presentation - DNA Standards and Bioinformatics Benchmarks for Metagenomics
    Keynote Presentation - DNA Standards and Bioinformatics Benchmarks...
    Genomics and metagenomics have become ubiquitous research efforts.  Here we will show details of the development of physical, computational, and even space-based standards for metagenomi...
    Speaker: Christopher Mason, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2017
    2
    APR 13, 2017 | 6:00 AM
    The Pandora's box of molecular diagnostics: Genomic analysis of uterine lavage fluid detects early endometrial cancers
    The Pandora's box of molecular diagnostics: Genomic analysis of...
    Endometrial cancer is the most common gynecologic malignancy in the United States and both the incidence and associated mortality are rising. When detected early, endometrial cancer survival...
    Speaker: John Martignetti, MD, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2017
    2
    APR 12, 2017 | 7:30 AM
    Keynote Presentation - Variant interpretation in Molecular Diagnostics: Challenges and Knowledge Gaps
    Keynote Presentation - Variant interpretation in Molecular Diagnostics:...
    As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
    Speaker: Robert Nussbaum MD, FACP, FACMG
    Presented at: Molecular Diagnostics Virtual Event Series 2017
    5
    MAR 21, 2017 | 10:00 AM
    WEBINAR: Application of combined RNA in situ hybridization and multiplex immunohistochemistry to unravel tumor heterogeneity in prostate cancer
    WEBINAR: Application of combined RNA in situ hybridization and...
    DATE: March 21, 2017TIME: 10:00am PT, 1:00pm ETSponsored By:      Prostate cancer is a complex disease with multiple tumors originating independent...
    Speaker: Nallasivam Palanisamy, PhD , Courtney Anderson, PhD
    Sponsored By: Novus Biologicals a Bio-Techne Brand
    20 9
     
     
  • MAR 16, 2017 | 1:30 PM
    Humans and fish to study the cellular mechanisms of neuromuscular development
    Humans and fish to study the cellular mechanisms of neuromuscular...
    Studying the genetics of rare congenital disorders disrupting cognitive function has led to the identification of multiple disease genes that helped us better understand the mechanisms underl...
    Speaker: Chiara Manzini, PhD
    Presented at: Neuroscience Virtual Event Series 2017
    1
    MAR 15, 2017 | 6:00 AM
    Prefrontal control of learned fear and avoidance
    Prefrontal control of learned fear and avoidance
    We are nearing three decades of research on the neural circuits of Pavlovian fear conditioning. The advent of new techniques such as genetic and optogenetic manipulations have greatly advance...
    Speaker: Gregory Quirk, PhD
    Presented at: Neuroscience Virtual Event Series 2017
    3
    FEB 23, 2017 | 1:30 PM
    Mining Dense, Dynamic Personal Data Clouds to Enhance Health
    Mining Dense, Dynamic Personal Data Clouds to Enhance Health
    Healthcare is becoming more proactive and data-rich than anything before possible – and will increasingly focus on maintaining and enhancing wellness more than just reacting to disease....
    Speaker: Nathan Price, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    4
    FEB 23, 2017 | 12:00 PM
    Recent progress in cellular medicine with an eye to precision medicine
    Recent progress in cellular medicine with an eye to precision...
    Despite vast investment for decades in cancer research and development, cancer is still among the leading causes of death worldwide and its toll is expected to rise by about 70% over the next...
    Speaker: Giacinto Scoles, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    2
    FEB 23, 2017 | 12:00 PM
    Rapid Learning for Precision Oncology
    Rapid Learning for Precision Oncology
    In this era of precision molecular medicine, knowledge changes rapidly and is highly dispersed.  Physicians and patients are faced with conflicting expert opinions and a shortage of acti...
    Speaker: Marty Tenenbaum, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    3
     
     
  • FEB 23, 2017 | 12:00 PM
    Novel Precision medicines that exploit Proximity
    Novel Precision medicines that exploit Proximity
    Cell growth and regulation involve vast networks of interacting DNAs, RNAs, proteins, lipids and sugars. Through a fundamental strategy of life, these interactions push multiple cellular proc...
    Speaker: James Prudent, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    3
    FEB 23, 2017 | 10:30 AM
    Clinical Whole Genome Sequencing In a Healthy Population
    Clinical Whole Genome Sequencing In a Healthy Population
    Clinical whole genome sequencing (cWGS) is rapidly gaining acceptance as cost is decreasing and success rates in identifying disease-causing variants are increasing. While the application of...
    Speaker: Erica Ramos, MS, CGC
    Presented at: Precision Medicine Virtual Event Series 2017
    3
    FEB 23, 2017 | 9:00 AM
    Metabolomics and its Role in Precision Medicine
    Metabolomics and its Role in Precision Medicine
    Although there have been enormous advances in gene sequencing, the results give massive amounts of data that only point to disease risk. Major health factors, including diet, lifestyle, envir...
    Speaker: John Ryals, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    4
    FEB 23, 2017 | 7:30 AM
    KEYNOTE: Towards a new era of precision medicine in psychiatry: Using genetic algorithms to optimize medication outcome
    KEYNOTE: Towards a new era of precision medicine in psychiatry:...
    Psychiatric disorders are among the leading causes of disability worldwide. One fifth of the population will suffer from a psychiatric disorder in their lifetime. Antipsychotic and antidepres...
    Speaker: Daniel Mueller, PhD
    Presented at: Precision Medicine Virtual Event Series 2017
    4
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