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    Rare Diseases

    Rare Diseases: A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. ... In the EU, as many as 30 million people may be affected by one of over 6000 existing rare diseases.

    Webinars

    • FEB 08, 2017 | 1:30 PM
      Characterization of Niemann Pick Type C mutant mice using automated cage monitoring systems
      Characterization of Niemann Pick Type C mutant mice using automated...
      DATE: February 8, 2017TIME: 1:30pm PT, 4:30pm ETPerlara PBC, is a public benefit company committed to discovering small molecule therapeutics for rare genetic diseases. Our approach con...
      Speaker: Sangeetha Iyer, PhD
      Presented at: Laboratory Animal Sciences Virtual Event Series 2017
      1
      DEC 14, 2016 | 9:00 AM
      Beyond Sequencing: Population Analysis in an Era of Mass Spectrometry Proteomics
      Beyond Sequencing: Population Analysis in an Era of Mass Spectrometry...
      DATE: December 14, 2016TIME: 9:00 AM PT, 12:00 PM ETMicroarrays and nucleotide sequencers have become commonplace tools in current research, yet until now, equivalent technologies for p...
      Speaker: Evan Williams, PhD
      Sponsored By: SCIEX, SCIEX
      25
      NOV 30, 2016 | 9:00 AM
      Best practices in optimizing sample processing for improved flow cytometry
      Best practices in optimizing sample processing for improved flow...
      DATE: November 30, 2016 TIME: 9:00 AM PT, 12:00PM ET When using a flow cytometry core facility, researchers commonly evaluate how to process their cellular samples most efficiently, while...
      Speaker: Chris Spring
      Sponsored By: Miltenyi Biotec, Miltenyi Biotec
      8 3
      NOV 17, 2016 | 1:00 PM
      Initiatives to advance stem cell science and medicine at California's $3 billion stem cell agency
      Initiatives to advance stem cell science and medicine at California's...
      The mission of the California Institute for Regenerative Medicine (CIRM) is to accelerate stem cell treatments to patients with unmet medical needs.  With $3 billion in funding and 300 a...
      Speaker: Stephen Lin, PhD
      Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
      4
      NOV 02, 2016 | 6:00 AM
      Fast and easy identification of disease causing variants in hereditary diseases using patient phenotype information and testing for different modes of inheritance
      Fast and easy identification of disease causing variants in hereditary...
      Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often...
      Speaker: Anika Joecker, PhD
      Presented at: Clinical Diagnostics & Research Virtual Event Series 2016
      3
      OCT 04, 2016 | 8:00 AM
      Overcoming the Clinical Sample Bottleneck for Expression Studies
      Overcoming the Clinical Sample Bottleneck for Expression Studies
      DATE:  October 4, 2016 TIME:  8:00am PT, 11:00am ET Extracting robust expression data from clinical samples represents a unique opportunity to find actionable biomarkers. But it...
      Speaker: Mark Manary, MD , Sean Diehl, PhD
      Sponsored By: Affymetrix, Affymetrix
      4
      JUN 23, 2016 | 11:00 AM
      Spotlights on T cells: new developments for translational and basic T cell research
      Spotlights on T cells: new developments for translational and...
      DATE:  June 23, 2016 TIME:  11:00am Pacific time, 2:00pm Eastern time T cells as part of the adaptive immune system play a central role in cell-mediated immunity. Their link to ...
      Speaker: Anne Richter, PhD
      Sponsored By: Miltenyi Biotec, Miltenyi Biotec
      6 1
      MAY 11, 2016 | 12:00 PM
      C.E. CREDITS
      The FDA's experience with emerging genomics technologies - past, present and future
      The FDA's experience with emerging genomics technologies - past,...
      Emerging technologies facilitate basic science research, but their value in regulatory applications requires rigorous assessment and consensus within the research community. Next-generation s...
      Speaker: Weida Tong, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2016
      2
      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 | 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
      APR 07, 2016 | 10:30 AM
      Airbrushing the Poster Child:  How ACOG's 2016 cervical cancer screening practice bulletin may impact molecular testing
      Airbrushing the Poster Child: How ACOG's 2016 cervical cancer...
      Cervical cancer screening has been the 20th century poster child for preventative screening.  This presentation is a gynecologist’s perspective on its continuing evolution –b...
      Speaker: Ed Baker, PhD
      Presented at: Molecular Diagnostics Virtual Event Series 2016
      3
      MAR 29, 2016 | 8:00 AM
      WEBINAR: Applications of Targeted Gene Panels in Inherited Disease Research
      WEBINAR: Applications of Targeted Gene Panels in Inherited Disease...
      Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes...
      Speaker: Brian Meyer, PhD , Robert Sebra, PhD
      Sponsored By: Thermo Fisher Scientific - Ion Torrent, Thermo Fisher Scientific - Ion Torrent
      11 3
      MAR 22, 2016 | 7:00 AM
      C.E. CREDITS
      From History to Action
      From History to Action
      Family history can be viewed as the first stop in the assessment of genetic risks for any individual. For many genetic disorders there will be no obvious signs of symptoms until significant m...
      Speaker: Bruce R. Korf, MD, PhD
      Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
      3 2
      FEB 24, 2016 | 8:00 AM
      Keynote Presentation - Integrating the digital universe of data with consumer-driven mobile apps and large-scale panomics data to better understand, treat, and prevent disease
      Keynote Presentation - Integrating the digital universe of data...
      One of the primary goals of precision medicine is the aggregation and interpretation of deep, longitudinal patient-specific data in the context of the digital universe of information, using a...
      Speaker: Eric Schadt, PhD
      Presented at: Precision Medicine Virtual Event Series 2016
      2
      SEP 16, 2015 | 10:00 AM
      Catalyzing Translational Innovation
      Catalyzing Translational Innovation
      The process by which observations in the laboratory or the clinic are transformed into demonstrably useful interventions that tangibly improve human health is frequently termed "translation."...
      Speaker: Christopher Austin
      Presented at: C&EN's Virtual Symposium: Advances in Drug Discovery and Development
      2
      SEP 16, 2015 | 7:00 AM
      Open Science for Rare and Neglected Diseases
      Open Science for Rare and Neglected Diseases
      As a computational scientist I have been fortunate to work with many collaborators to generate biological data to train and test my models. We are in a position with increasing amounts of dat...
      Speaker: Sean Ekins
      Presented at: C&EN's Virtual Symposium: Advances in Drug Discovery and Development
      4
      JUN 16, 2015 | 8:00 AM
      Employing new approaches to investigate human and mouse group 2 innate lymphoid cell responses
      Employing new approaches to investigate human and mouse group...
      Date: June 16, 2015Time: 8:00AM Pacific time, 11:00AM Eastern TimeGroup 2 innate lymphoid cells (ILC2s) are recently described innate immune cells that contribute to type 2 inflammation, tiss...
      Speaker: Elia Tait Wojno
      Sponsored By: eBioscience, an Affymetrix business, eBioscience, an Affymetrix business
      12
      MAY 13, 2015 | 12:00 PM
      Dissecting the diagnostic yield of exome sequencing
      Dissecting the diagnostic yield of exome sequencing
      Technological advances in high throughput, low cost DNA sequencing coupled with the availability of a high quality reference assembly allow us to interrogate the genome with greater precision...
      Speaker: Deanna Church, PhD
      Presented at: Genetics and Genomics Virtual Event Series 2015
      2
      MAY 13, 2015 | 10:30 AM
      Population Scale Human Genome Analysis on the Cloud
      Population Scale Human Genome Analysis on the Cloud
      Advanced sequencing technologies have made population scale whole genome sequencing a possibility. However, current strategies for analysis of this data rely upon parallelization approaches t...
      Speaker: Peter White, PhD, James Hirmas
      Presented at: Genetics and Genomics Virtual Event Series 2015
      4
      SEP 24, 2014 | 6:00 AM
      Translational Medicine for Rare Disease: Lessons from Duchenne Muscular Dystrophy
      Translational Medicine for Rare Disease: Lessons from Duchenne...
      Duchenne Muscular Dystrophy (DMD) is an X-linked genetic disease occurring in 1 in 3,500 births, and is uniformly fatal in boys. It is caused by any one of over 50 known mutations in the gen...
      Speaker: Susan Ward, PhD
      Presented at: Advances in Drug Discovery and Development
      14
      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 | 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
      OCT 17, 2013 | 8:00 AM
      C.E. CREDITS
      Next-generation Cancer Care in the Age of Genomics, Precision Medicine, High Throughput Biology
      Next-generation Cancer Care in the Age of Genomics, Precision...
      Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
      Speaker: C Jimmy Lin, MD, PhD, MHS
      Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
      52
    FEB 08, 2017 | 1:30 PM
    Characterization of Niemann Pick Type C mutant mice using automated cage monitoring systems
    Characterization of Niemann Pick Type C mutant mice using automated...
    DATE: February 8, 2017TIME: 1:30pm PT, 4:30pm ETPerlara PBC, is a public benefit company committed to discovering small molecule therapeutics for rare genetic diseases. Our approach con...
    Speaker: Sangeetha Iyer, PhD
    Presented at: Laboratory Animal Sciences Virtual Event Series 2017
    1
    DEC 14, 2016 | 9:00 AM
    Beyond Sequencing: Population Analysis in an Era of Mass Spectrometry Proteomics
    Beyond Sequencing: Population Analysis in an Era of Mass Spectrometry...
    DATE: December 14, 2016TIME: 9:00 AM PT, 12:00 PM ETMicroarrays and nucleotide sequencers have become commonplace tools in current research, yet until now, equivalent technologies for p...
    Speaker: Evan Williams, PhD
    Sponsored By: SCIEX, SCIEX
    25
    NOV 30, 2016 | 9:00 AM
    Best practices in optimizing sample processing for improved flow cytometry
    Best practices in optimizing sample processing for improved flow...
    DATE: November 30, 2016 TIME: 9:00 AM PT, 12:00PM ET When using a flow cytometry core facility, researchers commonly evaluate how to process their cellular samples most efficiently, while...
    Speaker: Chris Spring
    Sponsored By: Miltenyi Biotec, Miltenyi Biotec
    8 3
    NOV 17, 2016 | 1:00 PM
    Initiatives to advance stem cell science and medicine at California's $3 billion stem cell agency
    Initiatives to advance stem cell science and medicine at California's...
    The mission of the California Institute for Regenerative Medicine (CIRM) is to accelerate stem cell treatments to patients with unmet medical needs.  With $3 billion in funding and 300 a...
    Speaker: Stephen Lin, PhD
    Presented at: 4th Annual 24 Hours of Stem Cellsâ„¢ virtual event
    4
    NOV 02, 2016 | 6:00 AM
    Fast and easy identification of disease causing variants in hereditary diseases using patient phenotype information and testing for different modes of inheritance
    Fast and easy identification of disease causing variants in hereditary...
    Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often...
    Speaker: Anika Joecker, PhD
    Presented at: Clinical Diagnostics & Research Virtual Event Series 2016
    3
     
     
  • OCT 04, 2016 | 8:00 AM
    Overcoming the Clinical Sample Bottleneck for Expression Studies
    Overcoming the Clinical Sample Bottleneck for Expression Studies
    DATE:  October 4, 2016 TIME:  8:00am PT, 11:00am ET Extracting robust expression data from clinical samples represents a unique opportunity to find actionable biomarkers. But it...
    Speaker: Mark Manary, MD , Sean Diehl, PhD
    Sponsored By: Affymetrix, Affymetrix
    4
    JUN 23, 2016 | 11:00 AM
    Spotlights on T cells: new developments for translational and basic T cell research
    Spotlights on T cells: new developments for translational and...
    DATE:  June 23, 2016 TIME:  11:00am Pacific time, 2:00pm Eastern time T cells as part of the adaptive immune system play a central role in cell-mediated immunity. Their link to ...
    Speaker: Anne Richter, PhD
    Sponsored By: Miltenyi Biotec, Miltenyi Biotec
    6 1
    MAY 11, 2016 | 12:00 PM
    C.E. CREDITS
    The FDA's experience with emerging genomics technologies - past, present and future
    The FDA's experience with emerging genomics technologies - past,...
    Emerging technologies facilitate basic science research, but their value in regulatory applications requires rigorous assessment and consensus within the research community. Next-generation s...
    Speaker: Weida Tong, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2016
    2
    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 | 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
     
     
  • APR 07, 2016 | 10:30 AM
    Airbrushing the Poster Child:  How ACOG's 2016 cervical cancer screening practice bulletin may impact molecular testing
    Airbrushing the Poster Child: How ACOG's 2016 cervical cancer...
    Cervical cancer screening has been the 20th century poster child for preventative screening.  This presentation is a gynecologist’s perspective on its continuing evolution –b...
    Speaker: Ed Baker, PhD
    Presented at: Molecular Diagnostics Virtual Event Series 2016
    3
    MAR 29, 2016 | 8:00 AM
    WEBINAR: Applications of Targeted Gene Panels in Inherited Disease Research
    WEBINAR: Applications of Targeted Gene Panels in Inherited Disease...
    Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes...
    Speaker: Brian Meyer, PhD , Robert Sebra, PhD
    Sponsored By: Thermo Fisher Scientific - Ion Torrent, Thermo Fisher Scientific - Ion Torrent
    11 3
    MAR 22, 2016 | 7:00 AM
    C.E. CREDITS
    From History to Action
    From History to Action
    Family history can be viewed as the first stop in the assessment of genetic risks for any individual. For many genetic disorders there will be no obvious signs of symptoms until significant m...
    Speaker: Bruce R. Korf, MD, PhD
    Presented at: GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
    3 2
    FEB 24, 2016 | 8:00 AM
    Keynote Presentation - Integrating the digital universe of data with consumer-driven mobile apps and large-scale panomics data to better understand, treat, and prevent disease
    Keynote Presentation - Integrating the digital universe of data...
    One of the primary goals of precision medicine is the aggregation and interpretation of deep, longitudinal patient-specific data in the context of the digital universe of information, using a...
    Speaker: Eric Schadt, PhD
    Presented at: Precision Medicine Virtual Event Series 2016
    2
    SEP 16, 2015 | 10:00 AM
    Catalyzing Translational Innovation
    Catalyzing Translational Innovation
    The process by which observations in the laboratory or the clinic are transformed into demonstrably useful interventions that tangibly improve human health is frequently termed "translation."...
    Speaker: Christopher Austin
    Presented at: C&EN's Virtual Symposium: Advances in Drug Discovery and Development
    2
     
     
  • SEP 16, 2015 | 7:00 AM
    Open Science for Rare and Neglected Diseases
    Open Science for Rare and Neglected Diseases
    As a computational scientist I have been fortunate to work with many collaborators to generate biological data to train and test my models. We are in a position with increasing amounts of dat...
    Speaker: Sean Ekins
    Presented at: C&EN's Virtual Symposium: Advances in Drug Discovery and Development
    4
    JUN 16, 2015 | 8:00 AM
    Employing new approaches to investigate human and mouse group 2 innate lymphoid cell responses
    Employing new approaches to investigate human and mouse group...
    Date: June 16, 2015Time: 8:00AM Pacific time, 11:00AM Eastern TimeGroup 2 innate lymphoid cells (ILC2s) are recently described innate immune cells that contribute to type 2 inflammation, tiss...
    Speaker: Elia Tait Wojno
    Sponsored By: eBioscience, an Affymetrix business, eBioscience, an Affymetrix business
    12
    MAY 13, 2015 | 12:00 PM
    Dissecting the diagnostic yield of exome sequencing
    Dissecting the diagnostic yield of exome sequencing
    Technological advances in high throughput, low cost DNA sequencing coupled with the availability of a high quality reference assembly allow us to interrogate the genome with greater precision...
    Speaker: Deanna Church, PhD
    Presented at: Genetics and Genomics Virtual Event Series 2015
    2
    MAY 13, 2015 | 10:30 AM
    Population Scale Human Genome Analysis on the Cloud
    Population Scale Human Genome Analysis on the Cloud
    Advanced sequencing technologies have made population scale whole genome sequencing a possibility. However, current strategies for analysis of this data rely upon parallelization approaches t...
    Speaker: Peter White, PhD, James Hirmas
    Presented at: Genetics and Genomics Virtual Event Series 2015
    4
    SEP 24, 2014 | 6:00 AM
    Translational Medicine for Rare Disease: Lessons from Duchenne Muscular Dystrophy
    Translational Medicine for Rare Disease: Lessons from Duchenne...
    Duchenne Muscular Dystrophy (DMD) is an X-linked genetic disease occurring in 1 in 3,500 births, and is uniformly fatal in boys. It is caused by any one of over 50 known mutations in the gen...
    Speaker: Susan Ward, PhD
    Presented at: Advances in Drug Discovery and Development
    14
     
     
  • 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 | 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
    OCT 17, 2013 | 8:00 AM
    C.E. CREDITS
    Next-generation Cancer Care in the Age of Genomics, Precision Medicine, High Throughput Biology
    Next-generation Cancer Care in the Age of Genomics, Precision...
    Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
    Speaker: C Jimmy Lin, MD, PhD, MHS
    Presented at: Cancer: Research, Discovery and Therapeutics Virtual Event Series 2013
    52
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